Prevention of disease can be primary (preventing disease before it happens as well as identifying and modifying risk factors), secondary (identifying early disease), or tertiary (treating complications of the disease or limiting the impact of established disease). Important areas for primary prevention include encouraging women to exercise regularly to reduce the risk of coronary heart disease (CHD) and breast cancer as well as counseling women to discontinue smoking to reduce the risk of cardiac and lung diseases. Cancer screening in women is an example of secondary prevention, in that disease is detected early enough that prompt treatment improves outcome (even in its precursor stage, eg, colonic adenomatous polypectomy preventing colon cancer). Loop electrocervical excision procedures for cervical intraepithelial neoplasia I–III is an example of tertiary prevention (removal of early stage cancer to prevent death from metastatic disease).
et al. Success of smoking cessation interventions during pregnancy. Am J Obstet Gynecol. 2016 Nov;215(5):611.e1–8.
et al. Screening for colorectal cancer: updated evidence report and systematic review for the US Preventive Services Task Force. JAMA. 2016 Jun 21;315(23):2576–94. Errata in: JAMA. 2016 Aug 2;316(5):545; JAMA. 2016 Oct 4;316(13):1412.
US Preventive Services Task Force. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. JAMA. 2016 Jun 21;315(23):2564–75. Erratum in: JAMA. 2017 Jun 6;317(21):2239.
et al. Four categories of LEEP for CIN of various areas: a retrospective cohort study. Minim Invasive Ther Allied Technol. 2017 Apr;26(2):104–10.
CARDIOVASCULAR DISEASE PREVENTION
Although cardiovascular disease is the leading cause of death in women, they are often more concerned about developing breast cancer (see below) than about developing heart disease. Women’s heart disease risk tends to lag about 10 years behind that of men, thus at any given age, a woman’s baseline risk will be lower than that of a man. However, cardiovascular disease remains the leading cause of death in women. While some heart disease risk factors such as age and family history are not modifiable, as with men, other risk factors such as hypertension, hyperlipidemia, smoking, obesity, and diabetes are potentially modifiable. Decision making about treatment of some of these risk factors is affected by overall cardiovascular risk. The Framingham risk calculator (http://cvdrisk.nhlbi.nih.gov/) can be used to estimate a woman’s 10-year risk of CHD based on her age, smoking status, blood pressure, and cholesterol levels. The pooled cohort risk assessment equations are currently being used to predict 10-year risk of atherosclerotic cardiovascular disease (ASCVD). In addition to the risk factors in the Framingham risk calculator, the pooled cohort equations include race (white or other vs African American) and diabetes (http://clincalc.com/Cardiology/ASCVD/PooledCohort.aspx). In addition to treatment of risk factors such as hypertension, diabetes and hyperlipidemia, decision making about whether to take aspirin for cardiovascular disease prevention is important. Some studies have suggested that aspirin may be helpful for primary prevention of stroke in women but not for primary CHD prevention. However, current guidelines regarding aspirin for primary prevention of cardiovascular disease are not gender specific and focus on overall risk of cardiovascular disease balanced against risk of bleeding. Cardiovascular disease, risk factors, and therapeutic options for risk factor reduction and prevention are discussed in Chapter 1.
et al. Aspirin use for the primary prevention of cardiovascular disease and colorectal cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2016 Jun 21;164(12):836–45.
Risk Factors & Risk Assessment
Breast cancer is the most commonly detected non-skin cancer in women and the second leading cause of cancer death (see also Chapter 17). Breast cancer risk is increased with age and with a family history of breast cancer. Women who drink more than two alcoholic drinks per day are at increased risk for breast cancer, and exercise is associated with a decreased risk of breast cancer. Dietary intake has not been conclusively associated with breast cancer risk. Breast density is a risk factor for breast cancer; women with denser breasts as measured with mammography are at increased breast cancer risk. Although some states mandate that women with increased breast density on mammography be notified, it is not currently known what women can do to decrease this risk.
Various models have been used to predict a woman’s risk for breast cancer. The National Cancer Institute has developed the Breast Cancer Risk Assessment Tool (http://www.cancer.gov/bcrisktool/), which is based on the Gail Model, and calculates the woman’s risk of developing breast cancer in the next 5 years by considering the following factors: (1) the woman’s age, (2) age at which she had her first menstrual period, (3) age at delivery of first live child, (3) number of first-degree relatives with breast cancer, (4) history of any breast biopsies, and (5) history of atypical hyperplasia. The model has been validated in white women and has been evaluated in black women and found to be relatively accurate, although it may underestimate the risk in black women with a history of previous breast biopsies. It has yet to be validated in women of other ethnicities.
Primary Prevention: Chemoprevention
In addition to lifestyle modifications, such as exercise and moderation of alcohol intake, chemoprevention of breast cancer is an option for some women. The selective estrogen receptor modifiers (SERMS) tamoxifen and raloxifene have both been shown to reduce invasive breast cancer rates in high-risk women. However, there are risks associated with SERM treatment. Tamoxifen is associated with an increased risk of endometrial cancer and deep venous thrombosis (DVT). Although raloxifene is not associated with an increased risk of endometrial cancer, the risk of DVT remains. Aromatase inhibitors, such as exemestane, show promise for breast cancer prevention but are not currently FDA approved for this indication. The United States Preventive Services Task Force (USPSTF) recommends that clinicians discuss chemoprevention with women at high risk for breast cancer and at low risk for the adverse effects of chemoprevention. Clinicians should inform patients of the potential benefits and harms of chemoprevention. Breast cancer risk increases with age, but the risk of adverse effects from chemoprevention does as well. Since the clinical trials of tamoxifen and raloxifene for breast cancer prevention used a 1.66% 5-year risk for decision making about initiation of therapy, this risk level is often used as a guide for medication treatment.
Secondary Prevention: Breast Cancer Screening
Traditional breast cancer screening modalities include screening mammography, clinical breast examination, and breast self-examination. Breast cancer screening is discussed in detail in Chapters 1, 17, and 39 and in the references below.
et al. Breast cancer screening using tomosynthesis in combination with digital mammography. JAMA. 2014 Jun 25;311(24):2499–507.
et al. Twenty-five year follow-up for breast cancer incidence and mortality of the Canadian National Breast Screening Study: randomised screening trial. BMJ. 2014 Feb 11;348:g366.
et al. Use of medications to reduce risk for primary breast cancer: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2013 Apr 16;158(8):604–14.
et al. Breast cancer screening for women at average risk: 2015 guideline update from the American Cancer Society. JAMA. 2015 Oct 20;314(15):1599–614.
et al. Screening for breast cancer: U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2016 Feb 16;164(4):279–96.
et al. Quantifying the benefits and harms of screening mammography. JAMA Intern Med. 2014 Mar;174(3):448–54.
Colorectal cancer is the third leading cause of cancer death in both men and women. In 2013 an estimated 9% of cancer deaths in women were caused by colorectal cancer. Since the risk of colorectal cancer increases with age, all women should be screened for colorectal cancer starting at the age of 50. The USPSTF recommends routine screening in men and women aged 50–75, individualized decision making about screening in individuals aged 76–85, and no screening after the age of 85. Details of the screening options and suggested screening intervals are described in Chapter 1.
et al. Screening for colorectal cancer: updated evidence report and systematic review for the US Preventive Services Task Force. JAMA. 2016;315(23):2576–94. Errata in: JAMA. 2016 Aug 2;316(5):545; JAMA. 2016 Oct 4;316(13):1412.
Although lung cancer is not typically considered a “women’s cancer,” it is the leading cause of cancer mortality in both men and women. Primary prevention of lung cancer should be a high priority with encouragement of tobacco cessation among women who smoke, and screening recommendations for individuals at high risk for lung cancer are discussed in Chapters 1 and 39.
et al. Screening for lung cancer with low-dose computed tomography: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2013 Sep 17;159(6):411–20.
; U.S. Preventive Services Task Force. Screening for lung cancer: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014 Mar 4;160(5):330–8.
van der Aalst
et al. Lung cancer screening: latest developments and unanswered questions. Lancet Respir Med. 2016 Sep;4(9):749–61.
Ovarian cancer is a relatively rare but dreaded cancer, with a lifetime incidence of about 1.2% in women with no family history of ovarian cancer. Because it is often detected late, treatment options may be limited.
Many of the risk factors for ovarian cancer such as age and family history are not modifiable, but there are protective factors, including having more than one full-term pregnancy, breast-feeding, and oral contraceptive use. Women at high-risk for ovarian cancer should consider the use of oral contraceptives for as long as it is feasible.
Although screening for ovarian cancer with either the serum marker CA-125 or with transvaginal ultrasound is theoretically appealing, the rarity of the disease limits their use and leads to many false-positive test results (see also Chapter 18). The Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, where women were screened for ovarian cancer with annual CA-125 and transvaginal ultrasound and monitored for 12.4 years, resulted in no reduction in ovarian cancer mortality. In addition, there were a large number of false-positive test results, some leading to surgical follow-up and resultant surgical complications. Another larger European study, the United Kingdom Collaborative Trial of Ovarian Cancer Screening, randomized over 200,000 women to screening with transvaginal ultrasound with or without CA-25 versus no screening. After a median follow up of 11 years, there were no differences among groups in either ovarian cancer mortality or ovarian or primary peritoneal cancer mortality. The USPSTF does not recommend screening for ovarian cancer.
et al. Ovarian cancer screening and mortality in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomized controlled trial. Lancet. 2016 Mar 5;387(10022):945–56.
Osteoporotic fractures are increasing as the population ages. Age and female sex are major risk factors for osteoporotic fractures. Hip and vertebral fractures are associated with premature mortality. Osteoporosis risk is assessed by measuring bone mineral density (BMD). See also Chapter 26. Normal BMD is no lower than 1.0 standard deviation below the mean for young adult women (T score). Osteopenia is defined as BMD between 1.0 and 2.5 standard deviations below the mean for young adults (T score of –1.0 to –2.5) and osteoporosis is defined as a BMD more than 2.5 standard deviations below the young adult mean (T score below –2.5). Severe osteoporosis is defined as a T score below –2.5 with a fracture or a T score below –3.5.
The World Health Organization’s Facture Risk Assessment tool (FRAX, available at http://www.shef.ac.uk/FRAX/tool.jsp) can predict a woman’s 10-year risk of having any osteoporotic fracture and the 10-year risk of hip fracture. Risk factors used in the FRAX tool include age, gender, personal history of fracture, parental history of hip fracture, low body mass index, use of oral corticosteroids, secondary osteoporosis, current smoking, and alcohol intake of three or more drinks per day. It can be used with or without BMD. The FRAX tool is particularly helpful in determining which women with osteopenia are most likely to benefit from treatment. Based on the World Health Organization algorithm adopted for the United States, treatment is recommended when there is a 10-year risk of hip fracture of 3% or more or a 10-year risk of a major osteoporotic fracture of 20% or more.
Although calcium supplementation is routinely recommended, evidence from the Women’s Health Initiative showed that calcium supplementation did not reduce fracture risk in healthy postmenopausal women and other research has highlighted potential risks of calcium supplementation.
2. Calcium plus vitamin D
The USPSTF recommendations state that the evidence is insufficient (Grade I) to assess the balance of benefits and harms for the combination of vitamin D and calcium for primary prevention of fractures in men or premenopausal women. For noninstitutionalized postmenopausal women, there is insufficient evidence for daily supplementation with more than 400 international units of vitamin D3 and 1000 mg of calcium; supplementation with less than 400 international units of vitamin D3 and 1000 mg calcium is not recommended. Recommended calcium intake for women younger than 50 years is 1000 mg/day and for women aged 51 and over, it is 1200 mg/day. Dietary calcium is the preferred route for calcium intake because calcium supplements have been associated with an increased risk of myocardial infarction. Calcium supplements, if they are taken, can be given as either calcium citrate or calcium carbonate and should be combined with vitamin D. Regular weight-bearing exercise has also been associated with an increase in bone density although the effect is lost when the exercise is not continued.
The USPSTF recommends vitamin D supplementation to prevent falls in community-dwelling older women who are at high risk for falls. Vitamin D can be given as either D2 or D3 formulations. Recommendations are that women aged 70 and younger should consume 600 international units of vitamin D per day, whereas women aged 71 and older should consume 800 international units per day. Individuals with vitamin D deficiency (defined by the National Academy of Medicine as a 25-OH vitamin D less than 20 mg/mL) may require higher doses, although most recommendations for vitamin D supplementation are based on achieving a serum 25-OH vitamin D concentration of a particular level, rather than on a clinical outcome. Whether women should be routinely screened for vitamin D deficiency remains an ongoing question. However, given the association of vitamin D and fractures and falls, checking a 25-OH vitamin D level in women with osteopenia or osteoporosis or at high fall risk is appropriate.
Bone Mineral Density Screening
The biggest risk factor for developing osteoporosis is increasing age. Although many women expect to be screened around the time of menopause, routine BMD screening is not recommended until the age of 65. The National Osteoporosis Foundation recommends screening all women aged 65 and older and screening younger postmenopausal women if there is a concern based on their risk-factor profile. The USPSTF recommends screening women aged 65 and older and only screening younger women whose fracture risk is equal to or greater than that of a 65-year-old white woman who has no additional risk factors. The FRAX tool can be used to calculate 10-year risk of osteoporotic fracture. Most guidelines do not specifically address how often a woman should undergo BMD testing. However, decisions about when to rescreen should probably be based on the results of initial screening. Women with normal BMD or mild osteopenia at baseline can be screened less often than women who are near the threshold for osteoporosis.
Treatment is generally recommended in women who have a T score below –2.5, who have already had a fracture or who have a T score in the osteopenic range but are at high risk for fracture. Treatment options for osteoporosis are described in Chapter 26.
et al. Management of postmenopausal osteoporosis. Annu Rev Med. 2015;66:329–42.
et al. Comparison of fracture risk prediction by the US Preventive Services Task Force strategy and two alternative strategies in women 50-64 years old in the Women's Health Initiative. J Clin Endocrinol Metab. 2014 Dec;99(12):4514–22.
et al. Osteoporosis: screening, prevention, and management. Med Clin North Am. 2015 May;99(3):587–606.
et al. Prevention of falls in community-dwelling older adults: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2012 Aug 7;157(3):197–204.
et al. Vitamin D and calcium supplementation to prevent fractures in adults: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2013 May 7;158(9):691–6.
PREVENTION OF SEXUALLY TRANSMITTED INFECTIONS
Sexually transmitted infections (STIs) are common and some can lead to significant consequences. For example, chlamydia and gonorrheal infections can lead to pelvic inflammatory disease, infertility, and chronic pelvic pain. Many STIs are asymptomatic in women. Primary prevention of STIs includes promoting abstinence, postponing sexual debut, limiting number of sexual partners, and regular latex or polyurethane condom use.
Vaccines to Prevent Sexually Transmitted Infections
A. Human Papillomavirus Vaccine
Three human papillomavirus (HPV) vaccines are now available: a quadrivalent HPV vaccine that includes capsid proteins against four HPV types (6, 11, 16, and 18); a bivalent vaccine (includes capsid proteins against HPV types 16 and 18); and a nine-valent vaccine (includes capsid proteins against HPV types 6, 11, 16, 18, 31, 33, 45, 52, and 58). These vaccines are recommended by the Advisory Committee on Immunization Practices (ACIP) of the Centers for Disease Control and Prevention (CDC) for routine vaccination of girls, adolescents, and women aged 9–10 or 11–12 years with “catch-up” vaccinations of unvaccinated individuals up to age 26 years to prevent disease associated with these HPV types (see Chapter 18). The ACIP also recommends routine vaccination for boys and adolescents aged 11–12 years with catch-up vaccinations up to age 21 years. Published studies show a high degree of efficacy in prevention of vaccine-associated genital warts, persistent HPV infections, and cervical intraepithelial neoplasia. Protection has not been shown against strains that are not contained in the vaccine administered or against strains that had already infected an individual before vaccination.
Unanswered questions about these vaccines include their long-term effects and their duration of protection against infection. Receipt of a vaccine should not change cervical cancer screening intervals in women. For those who start the vaccine series before the age of 15, two doses are recommended, whereas for those who start the series between age 15 and 26 years, a three-dose vaccine series is recommended.
Hepatitis B vaccine is routinely administered to children and adolescents aged 0–18 years. For adults who have not previously been vaccinated, individuals who are at risk for sexual or blood-borne transmission of hepatitis B should be vaccinated. Rates of hepatitis B are higher in individuals with diabetes mellitus than in the rest of the population and outbreaks of hepatitis B have been associated with blood glucose monitoring and so hepatitis B vaccination is also recommended for individuals with diabetes mellitus.
Hepatitis A can also be sexually transmitted. Hepatitis A vaccination is currently recommended for all children aged 12 months and older and for all adults requesting protection against hepatitis A (eg, travelers, health care workers). Individuals who use injection or non-injection illicit drugs, and with high-risk sexual behaviors will receive greater benefit.
Male Condom Use to Prevent Sexually Transmitted Infections
Consistent use of latex or polyurethane condoms by male sexual partners is one of the most effective methods of preventing STIs in women. Consistent condom use has been shown to reduce the risk of transmission of HIV by 80–95%. Other studies have shown that consistent condom use can prevent transmission of gonorrhea, chlamydia and trichomonas. Transmission of herpes simplex viruses (HSV) can occur even when the infected individual does not have active lesions and thus consistent condom use has been shown to reduce the risk of HSV transmission. Condom use also decreases risk of HPV infection. Since oil-based lubricants can weaken latex, water-based lubricants should be used with latex condoms, if lubrication is needed.
Screening for Sexually Transmitted Infections
Screening for STIs in women can lead to early detection and treatment and can also reduce the risk of transmission to others. Screening is recommended for several STIs. In some cases, these recommendations are based solely based on age, whereas other recommendations also incorporate STI risk factors.
A. Chlamydia and Gonorrhea
The USPSTF and the CDC recommend annual screening for Chlamydia trachomatis and gonorrhea in sexually active women age 25 years and younger (see Chapter 30). Screening should continue in women over age 25 years who have high-risk sexual behaviors, including new or multiple sex partners, inconsistent condom use in non-monogamous relationships, previous or concurrent STIs, and exchanging sex for money.
The USPSTF recommends screening all women for HIV once, including all adolescents and women aged 15–65 years, and rescreening other women at high risk and all pregnant women. HIV testing should also be recommended to all patients who seek testing for, or who are found to have, an STI.
Women at high risk for hepatitis B infection should be screened with hepatitis B surface antigen, surface antibody and core antibody (see Table 16–5). High-risk individuals include those born in high-prevalence areas, those with HIV infection, injection drug users, female partners of men who have had sex with men, and household contacts of hepatitis B infected persons (USPSTF Grade B recommendation for testing).
The CDC recommends screening all women born between 1945 and 1965 for hepatitis C infection. Individuals at high risk for hepatitis C should also be screened. Risk factors include injection drug use and high-risk sexual behaviors.
Pharmacologic Prevention of Sexually Transmitted Infections
For HIV-negative women who are at high risk for acquiring HIV infection, preexposure prophylaxis can be an effective method of reducing its transmission (see Chapter 31). There is also observational evidence that postexposure prophylaxis can decrease the risk of infection after a sexual or occupational exposure to HIV (Chapter 31).
Treating individuals who have genital HSV with valacyclovir once daily can reduce the risk of transmitting it to an uninfected partner.
Special Considerations for Sexual Assault Victims
For women who are victims of a sexual assault, empiric treatment of several STIs is recommended. The CDC recommends empiric treatment of gonorrhea and chlamydia with ceftriaxone 250 mg intramuscularly and azithromycin 1 g orally. In addition, they recommend either metronidazole or tinidazole 2 g orally for empiric treatment of trichomoniasis.
The CDC also recommends that victims receive a hepatitis B vaccine, if they have not been previously vaccinated or do not have documented immunity. The three-dose vaccine series should then be completed with another dose 1 month later and a third dose at 6 months. If the perpetrator is known to be hepatitis B infected, immediate administration of the hepatitis B immune globulin is also recommended. Postexposure prophylaxis for HIV infection should also be offered (see Chapter 31). Age-eligible individuals who have not previously received vaccination against HPV should begin a two-dose HPV vaccine series.
If a woman declines empiric treatment of STIs, then testing for gonorrhea, chlamydia and trichomoniasis is recommended, along with blood tests for syphilis, hepatitis B, and HIV.
et al. Use of a 2-dose schedule for human papillomavirus
vaccination—updated recommendations of the Advisory Committee on Immunization Practices. MMWR Morb Mortal Wkly Rep. 2016 Dec 16;65(49):1405–8.
et al; Centers for Disease Control and Prevention (CDC). Use of 9-valent human papillomavirus
(HPV) vaccine: updated HPV vaccination recommendations of the Advisory Committee on Immunization Practices. MMWR Morb Mortal Wkly Rep. 2015 Mar 27;64(11):300–4.
Responding to intimate partner violence and sexual violence against women: WHO Clinical and Policy Guidelines. Geneva: World Health Organization; 2013.
et al. Screening for gonorrhea, chlamydia, and hepatitis B. JAMA. 2016 Mar 22–29;315(12):1278–9. Erratum in: JAMA. 2016 May 24–31;315(20):2237.
et al; Centers for Disease Control and Prevention. Sexually transmitted diseases treatment guidelines, 2015. MMWR Recomm Rep. 2015 Jun 5;64(RR-03):1–137. Erratum in: MMWR Recomm Rep. 2015 Aug 28;64(33):924.
Since depression is approximately two times more common in women than in men, clinicians should be alert to its symptoms in their female patients. Symptoms include depressed mood, loss of interest in activities, sleep disturbance, change in appetite or weight, psychomotor retardation, difficulty concentrating, feelings of worthlessness, and thoughts of suicide (see also Chapter 25). Low energy or fatigue is a particularly common symptom in women.
There are several clinical surveys for depression screening and there is no evidence to suggest that any particular screening tool is superior. A simple two-question screen called the Patient Health Questionnaire 2 (PHQ-2) appears to be effective. Patients are asked “Over the past 2 weeks, have you felt down, depressed or hopeless?” and “Over the past 2 weeks, have you felt little interest or pleasure in doing things?” A positive screening test should lead to more extensive evaluation, using tools such as the PHQ-9 for adults, the Geriatric Depression Scale-15 for older adults, or the Edinburgh Postnatal Depression Scale for pre- and postpartum women.
The USPSTF recommends screening for depression if staff-assisted depression care supports are in place to ensure accurate diagnosis, effective treatment, and follow-up. If these supports are not in place, screening is not recommended.
et al. Screening instruments for depression in primary care: a concise review for clinicians. Postgrad Med. 2015 Jan;127(1):99–106.
et al. Primary care screening for and treatment of depression in pregnant and postpartum women: evidence report and systematic review for the US Preventive Services Task Force. JAMA. 2016 Jan 26;315(4):388–406.
et al; US Preventive Services Task Force (USPSTF). Screening for depression in adults: US Preventive Services Task Force recommendation statement. JAMA. 2016 Jan 26;315(4):380–7.
ME. Recommendations for screening for depression in adults. JAMA. 2016 Jan 26;315(4):349–50.
SPECIFIC ISSUES & CONDITIONS
INTIMATE PARTNER VIOLENCE
Intimate partner violence (IPV) is a pattern of abusive behavior by a person who is in some type of intimate relationship with the victim. The abuse can be physical, sexual, or emotional and can include economic deprivation. Although anyone can be a victim of IPV, women are much more likely than men to be victims. Regardless of the type of abuse, the goal of the abuser is to gain control over the victim. IPV is common but is often not diagnosed, in part because patients try to hide the abuse.
The prevalence estimate of IPV varies depending on the setting. Rates are higher when measured in emergency departments than when measured in the general population. In a randomized controlled trial of IPV screening in emergency departments, the prevalence over 12 months ranged from 4% to 18%.
Risk factors for abuse include being young (under age 35 years); being pregnant; being single, divorced, or separated; alcohol or drug abuse in the victim or the partner; smoking; and being poor.
Since patients often do not volunteer that they have been abused, clinicians must be alert to clues that suggest abuse, including an explanation of the injuries that do not fit with what is being seen; frequent visits to the emergency department; and somatic complaints such as chronic headache, abdominal pain, and fatigue. The patient may be vague about some of her symptoms and may avoid eye contact. If the abusing partner is present, he or she may answer all the questions or may decline to leave the room. It is critical that the patient have the opportunity to speak with the clinician alone. The patient’s description of the events should be carefully detailed in case there are any subsequent legal issues.
Physical examination often reveals injuries in the central area of the body. There may be injuries on the forearms as well if the patient tried to defend herself. As with any situation of expected abuse, bruises that are in various stages of healing may be an important clue. All physical examination findings should be well documented.
In addition to the physical consequences, abuse can have psychological consequences. Posttraumatic stress disorder, depression, anxiety, and alcohol or other substance abuse can develop in victims. Somatization is also very common among victims.
Several instruments have been developed to screen for IPV. These include the HITS (Hurt, Insult, Threaten, Screamed at) tool, the Women Abuse Screening Tool (WAST), the Partner Violence Screen (PVS), the Abuse Assessment Screen (AAS), and the Women’s Experience with Battering (WEB) scale. A systematic review of these screening tools showed that most tools only had been evaluated in a relatively small number of studies and the sensitivities and specificities varied widely within and between the tools.
Inclusion of one question in the context of the medical history, “Have you ever been hit, kicked, punched or otherwise hurt by someone within the past year? If so, by whom?” has been shown to increase identification of IPV.
Many studies have addressed how the questions about IPV are asked. In one randomized trial, women preferred written questionnaires over face to face interviewing.
The USPSTF recommends that clinicians screen women of childbearing age for IPV including domestic violence, and provide or refer women who screen positive to intervention services.
Interventions can include encouraging the woman to leave the abusive situation, ensuring that she has a safe place to go, and counseling so that she can adequately assess her risk of danger and create a plan for safety. There is no evidence that treatment of the abuser changes abuser behavior.
Victims should be referred to social services so that they can provide information on local resources. A national domestic violence hotline (1-800-799-SAFE) can provide information on local resources.
In general, mandatory reporting of IPV or suspicion of it in adult women who are competent is not required in most states. However, mandatory reporting by clinicians is required in California, Colorado, Kentucky, Mississippi, Ohio, and Rhode Island.
; U.S. Preventive Services Task Force. Screening for intimate partner violence and abuse of elderly and vulnerable adults: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2013 Mar 19;158(6):478–86.
N. Intimate partner violence: prevalence, health consequences, and intervention. Med Clin North Am. 2015 May;99(3):629–49.
Eating disorders are common in women. Anorexia nervosa and bulimia nervosa are described in detail in Chapter 29. The female athlete triad disorder, disordered eating in diabetic patients, and binge eating disorders are other eating disorders that should be considered in appropriate women.
1. Female Athlete Triad Disorder
Female athletes who participate in sports and activities valuing thinness are at increased risk for developing the female athlete triad disorder. The definition of the triad includes disordered eating (a spectrum of abnormal patterns of eating, including bingeing; purging; food restriction; prolonged fasting; and the use of diet pills, diuretics, or laxatives), menstrual disorders, and low BMD. Half of all athletes with amenorrhea have bone density at least 1.0 standard deviation below the mean. The bone density is decreased even in those areas subjected to stress during exercise. The diagnosis is made when the female athlete meets the three criteria of the triad.
Individuals with the female athlete triad display some pattern of disordered eating and have some menstrual irregularities. Many women have amenorrhea but others have irregular menses. Typically, the patient has concerns about weight and body image. A history of stress fractures should also raise the clinician’s concern.
Depending on the severity of the symptoms and whether or not the patient is bingeing and purging, the laboratory abnormalities can be similar to those seen in anorexia nervosa or bulimia nervosa. BMD, if measured, is decreased.
The main differential diagnoses include anorexia nervosa, bulimia nervosa as well as endocrine disorders such as hyperthyroidism and diabetes mellitus.
Little evidence is currently available about treatment of the female athlete triad. Strategies such as counseling, cognitive behavior therapy, and possibly exercise restriction may be helpful. A multidisciplinary approach, including consultation with a nutritionist and communication with the coach and trainers, may enable common goal setting. The desire to participate in sports and the lure of a performance enhancing diet may motivate some patients to pursue treatment.
2. Disordered Eating in Diabetic Women
Eating disturbances have been estimated to be present in up to one-third of young women with diabetes mellitus. Eating disorders are more common in female adolescents with diabetes than in their non-diabetic peers, and in women with type 1 diabetes. Mortality is particularly high in individuals with both diabetes and eating disorders.
For diabetes, the dietary regimen emphasizes intense meal timing and consistency. In addition, the hunger associated with hypoglycemia encourages binge eating. Diabetic patients with disordered eating have been shown to have an increased risk of retinopathy. Given the emphasis that young women often place on body weight, maintaining optimal diabetes control is a particular challenge. The diagnosis is typically made in a diabetic patient who has worsening diabetic control, when other causes of worsening control have been ruled out.
Diabetic patients may report polydipsia, polyuria, or weight loss. In addition, upon questioning, they may report disturbed eating patterns. Other symptoms associated with eating disorders, such as disturbance of body image and menstrual irregularities, may also be present.
The main laboratory finding will be a trend of increasing levels of hemoglobin A1C.
The main differential diagnosis includes looking for other causes of worsening glycemic control such as underlying infection or metabolic disease such as hyperthyroidism.
There is currently no evidence to support any particular strategies for the treatment of disordered eating in diabetic women. Proposed strategies for at risk women include nutritional counseling to promote healthy eating instead of dietary restraint, regular (instead of fixed) meal and snack times, less intensive insulin therapy to reduce weight gain, and family counseling to improve communication.
No studies have evaluated the optimal treatment of diabetic patients with established eating disorders. Presumably, strategies that are effective for patients without diabetes, such as cognitive behavioral therapy and medications, will be effective. In addition, diabetic management strategies that do not require the patient to constantly think about food may be beneficial.
ESSENTIALS OF DIAGNOSIS
Binge eating disorder consists of episodes of eating a large amount of food in a discrete period of time with a sense of lack of control.
Binge episodes are characterized by at least three of the following:
– Eating large amounts of food when not feeling hungry.
– Eating more rapidly than normal.
– Eating until feeling uncomfortably full.
– Eating alone because of embarrassment about the amount of food consumed.
– Feeling disgusted, depressed, or guilty after eating.
Episodes occur at least once a week for 3 months.
No compensatory behavior (purging, fasting, or excessive exercise) after eating.
Binge eating commonly occurs independent of anorexia nervosa or bulimia nervosa.
The level of severity is based on the number of binge eating episodes per week: mild (1–3); moderate (4–7); severe (8–13) and extreme (14 or more).
Binge eating disorder, more common than anorexia nervosa or bulimia nervosa, is recognized as a diagnosable eating disorder in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) (see Chapter 29).
Binge eating disorder is much more common in women and is associated with obesity, although not all individuals with binge eating disorder are obese. Obesity-related complications are likely to occur, and the disorder may be more common in weight cycling patients. Psychiatric comorbidities are common.
Affected women may present with weight gain or may describe binging episodes. There are no specific laboratory findings for this disorder.
The main differential diagnosis includes other psychiatric and eating disorders. Other diagnostic possibilities include hypothyroidism and Prader-Willi syndrome.
Treatment goals focus on decreasing the patient’s binge eating episodes and may include weight loss and treatment of other psychiatric comorbidities. As in bulimia nervosa, cognitive behavioral therapy is the mainstay of treatment. Interpersonal therapy has also been shown to be effective. Pharmacotherapy with selective serotonin reuptake inhibitors (SSRI) is also helpful, but does not appear to be better than cognitive behavioral therapy. If the woman does not respond to an SSRI, then topiramate and lisdexamfetamine (a medication typically used for attention deficit hyperactivity disorder) have also shown some efficacy. Whether cessation of binge eating disorder has an impact on subsequent weight loss or other obesity-related complications is not clear.
et al. Binge-eating disorder in adults: a systematic review and meta-analysis. Ann Intern Med. 2016 Sep 20;165(6):409–20.
et al. Treatment of patients with severe and enduring eating disorders. Curr Opin Psychiatry. 2015 Nov;28(6):473–7.
et al. 2014 Female Athlete Triad Coalition consensus statement on treatment and return to play of the female athlete triad. Curr Sports Med Rep. 2014 Jul–Aug;13(4):219–32.
et al. Predictors of treatment outcome in individuals with eating disorders: a systematic review and meta-analysis. Int J Eat Disord. 2015 Nov;48(7):946–71.
SEXUALITY & SEXUAL HEALTH
Sexual dysfunction is common among women. Most recent estimates indicate that approximately 40% of women will experience a sexual problem in their lifetime, and 12% will experience significant distress related to this problem. DSM-5 has updated the classification of female sexual dysfunction, combining hypoactive sexual desire, sexual aversion, and sexual arousal disorders into a larger category termed “female sexual interest or arousal disorder.” Additional types of female sexual disorder include female orgasmic disorder and genitopelvic pain or penetration disorders. Symptoms must be present for 6 months, be personally distressing to the patient, and meet specific severity criteria (outlined in DSM-5) to ensure an accurate diagnosis.
Although female sexual disorders are common, only about one-third of women seek help from their clinicians. Thus, it is important for health care providers to invite women to discuss their sexual concerns by routinely initiating dialogue about sexual health during office visits. Patient concerns can be explored with a more complete sexual assessment that should include the onset, duration, and severity of symptoms as well as associated distress. Screening instruments can be useful for identifying specific disorders.
LOW SEXUAL DESIRE DISORDER
The low sexual desire disorder is the most common type of female sexual dysfunction. In a US study of more than 30,000 women, 12.3% of women ages 45–64 and 7.4% of women older than 65 reported low sexual desire and associated distress. The Decreased Sexual Desire Screener (http://www.sexhealthmatters.org/resources/decreased-sexual-desire-screener) is a validated self-administered questionnaire that can aid clinicians to diagnose this disorder. The DSM-5 criteria emphasize that low sexual desire may be associated with arousal disorders, so clinicians should ask patients about response to internal or external sexual cues and sensations during sexual encounters.
Pathophysiologically, low sexual desire disorder is related to an imbalance of central sexual excitatory and inhibitory pathways. Excitatory pathways involve the action of dopamine, melatonin, oxytocin, vasopressin, and norepinephrine, whereas inhibitory pathways utilize opioid, serotonin, and endocannabinoid systems. Psychological disorders, medications, medical comorbidities, and relationship issues can further contribute to the effect that this imbalance has on sexual functioning.
Several medical conditions (depression, anxiety, diabetes, urinary incontinence, and multiple sclerosis) and certain medications (antidepressants, hormonal therapy, antihypertensives) can contribute to low sexual desire, so a detailed history is essential for eliciting potentially modifiable risk factors. The gynecologic examination should focus on identifying areas of tenderness or discomfort that might be associated with painful intercourse, thereby reducing sexual desire. Laboratory evaluation is not necessary for making the diagnosis, although prolactin and thyroid hormone levels can be measured in select patients. Notably, testosterone levels do not correlate with female sexual function and should not be routinely measured.
Treatment for low sexual desire includes office-based counseling, psychological therapy, and medications. Office-based counseling can be facilitated using an approach based on the PLISSIT model employed in sex therapy. (The letters of the model’s name refer to the four different levels of intervention that a sex therapist can use: permission [P], limited information [LI], specific suggestions [SS], and intensive therapy [IT].) In addition to sex therapy, intensive psychological therapy may include cognitive behavioral training and mindfulness-based stress reduction training (see Chapter e4).
Based on the understanding of sexual excitatory and inhibitory pathways, medications that increase dopamine or decrease serotonin release or binding may be effective in increasing sexual desire. Flibanserin, which is a full agonist of the 5-HT1A receptor and, with lower affinity, an antagonist of the 5-HT2A receptor, is currently the only FDA-approved medication for the treatment of low sexual desire in premenopausal women. A 2016 systematic review evaluated the efficacy of flibanserin in 5914 premenopausal and postmenopausal women. Compared to women taking placebo, women who were taking flibanserin had a small increase in the number of satisfying sexual events (an increase of 0.5 events per 4 weeks) and sexual desire intensity (an increase of 1.6 points per 4 weeks [on an 84-point scale]). However, women in the treatment group were four times more likely to experience the side effects of dizziness and somnolence.
et al. Hypoactive sexual desire disorder: International Society for the Study of Women's Sexual Health (ISSWSH) expert consensus panel review. Mayo Clin Proc. 2017 Jan;92(1):114–28.
et al. Efficacy and safety of flibanserin
for the treatment of hypoactive sexual desire disorder in women: a systematic review and meta-analysis. JAMA Intern Med. 2016 Apr;176(4):453–62.
et al. Female sexual dysfunction: focus on low desire. Obstet Gynecol. 2015 Feb;125(2):477–86.
ESSENTIALS OF DIAGNOSIS
Duration of 6 months or more.
Localized to anatomic pelvis, anterior abdominal wall at or below the umbilicus, the lumbosacral back, or buttocks.
Associated with functional disability.
Chronic pelvic pain is defined as noncyclic pain lasting at least 6 months that localizes to the pelvic girdle region; it must be of sufficient severity to cause functional disability or necessitate medical care. This disorder is common, with a prevalence rate of between 6.4% and 16.9%, and it is associated with diminished quality of life, increased fatigue, lessened work capacity, and marital dysfunction.
Chronic pelvic pain is a symptom that can arise from a diverse group of disorders, including gynecologic, urologic, gastrointestinal, musculoskeletal, or neurologic abnormalities. Although endometriosis is the most common gynecologic condition associated with it, postoperative adhesions, chronic pelvic inflammatory disease, ovarian remnant, and adenomyosis should also be considered. Pelvic vein incompetence (also referred to as pelvic congestion syndrome) is associated with dilated pelvic veins and retrograde flow; patients may present with a dull pelvic “ache” that is worse with standing and improves with being recumbent. Interstitial cystitis, irritable bowel syndrome, and pelvic floor myalgia arising from trigger points in the pelvic floor have all been associated with chronic pelvic pain. Tightness of the piriformis and obturator muscles, hip arthritis, labral pathology, lumbar spondylosis, and nerve entrapment can contribute to pelvic discomfort. In fact, most women with chronic pelvic pain have multiple diagnoses contributing to their pain.
Certain features of the history and physical examination can provide clues to the underlying diagnosis. Patients should be asked about the location, quality, and intensity of their pain as well as the relationship with the menstrual cycle, sexual activity, urination, and defecation. Dysmenorrhea and dyspareunia are often experienced by patients with endometriosis, whereas dysuria, urgency, and frequency in association with pelvic pain are characteristic of interstitial cystitis. Patients with irritable bowel syndrome often report abdominal pain, distention, and diarrhea or constipation. Clinicians should ask patients about surgery or direct trauma involving the spine or pelvis, which may suggest musculoskeletal sources of pain. The physical examination, including the pelvic examination, is usually quite painful in the patient with chronic pelvic pain and should be done carefully. Palpation of the thoracic and lumbar spine, pelvic girdle, and abdomen can reveal areas of discomfort that refer to the pelvic area. A positive Carnett test (an increase in tenderness when the abdominal muscles are tensed) can be helpful for identifying abdominal wall trigger points. A single-digit internal vaginal examination should be done to localize the exact area of pain and to assess for trigger points along the pelvic floor muscles. Palpation of the pelvic viscera can help identify localized areas of tenderness in women with endometriosis or chronic pelvic inflammatory disease. The external genitalia should also be examined carefully to identify areas of vulvar discomfort because vulvodynia often coexists in patients with chronic pelvic pain. Notably, the absence of physical examination findings does not rule out significant pathology.
All women should be screened with vaginal or cervical swabs for chlamydia and gonorrhea; cervical cytology may be considered if clinically appropriate.
C. Diagnostic Testing and Imaging
Pelvic ultrasonography is useful for confirming a suspected diagnosis, such as an ovarian endometrioma. Laparoscopy is considered the gold standard for diagnosis of gynecologic disorders, such as endometriosis or pelvic adhesions.
Chronic pelvic pain may be associated with gynecologic and nongynecologic conditions; it is not uncommon for more than one causative diagnosis to be present in a particular woman. Gastrointestinal disorders (irritable bowel syndrome) and functional urinary syndromes (interstitial cystitis) are the most common nongynecologic diagnoses that may contribute to chronic pelvic pain. Clinicians should perform a careful examination of the gastrointestinal, urologic, musculoskeletal, and neurologic systems in order to evaluate for these possibilities. Chronic pelvic pain may also be diagnosed in the absence of clear identifiable underlying pathology.
Successful treatment of chronic pelvic pain is typically multifaceted with its main goals being to improve the patient’s quality of life and functional status while minimizing adverse effects.
Hormonal therapies are used primarily for treating gynecologic sources of chronic pelvic pain. Women with suspected endometriosis can be empirically treated with hormonal therapy before diagnostic laparoscopy is performed. Combined oral contraceptives, progestins (oral, injectable, implantable, and intrauterine), aromatase inhibitors, and GnRH analogs are effective for treating the dysmenorrhea associated with endometriosis, although the side effects vary. The effects on bone mineral density associated with GnRH analog therapy can be mitigated by “add-back” low-dose hormonal therapy (norethindrone, low-dose estrogen, or a combination of estrogen and progesterone), which may also provide symptomatic relief for associated hot flashes and vaginal symptoms. For women who have endometriosis and desire pregnancy, nonsteroidal anti-inflammatory drugs (NSAIDs) may provide symptomatic relief, although long-term use of these medications is not recommended due to the potential for adverse gastrointestinal and renal effects.
The most common musculoskeletal source of chronic pelvic pain is pelvic floor myalgia, also known as levator ani syndrome. This condition is most effectively treated with pelvic physical therapy, which focuses on transvaginal muscle treatments. Additional therapies may include levator trigger point injection and perhaps botulinum toxin injections.
Treatment of irritable bowel syndrome and interstitial cystitis are discussed in Chapters 15 and 23.
Women with endometriosis may be offered laparoscopic surgical destruction of implants; presacral neurectomy may be a useful adjunct in those patients with midline pain. Women with significant dysmenorrhea, centrally-localized and cyclical pain who have persistent symptoms after medical and surgical therapies may benefit from hysterectomy.
Observational studies have demonstrated the benefit of percutaneous embolization for women with pain secondary to pelvic vein incompetence.
Patients should be referred to a gynecologist for diagnostic or therapeutic surgical procedures, if the underlying diagnosis is unclear, or if expertise is needed to manage the side effects associated with medical treatments (ie, GnRH agonist therapy).
Some patients may benefit from a multidisciplinary approach, involving pain psychologists and psychosexual counselors to help manage the effects of chronic pelvic pain on quality of life.
et al. Chronic pelvic pain in women: an epidemiological perspective. Womens Health (Lond). 2015 Nov;11(6):851–64.
LA. Management of chronic pelvic pain. Clin Obstet Gynecol. 2017 Sep;60(3):524–30.
et al. Pharmacological management of chronic pelvic pain in women. Drugs. 2017 Mar;77(3):285–301.
et al. Effectiveness of embolization or sclerotherapy of pelvic veins for reducing chronic pelvic pain: a systematic review. J Vasc Interv Radiol. 2016 Oct;27(10):1478–86.e8.
et al. Surgical management of endometriosis in patients with chronic pelvic pain. Semin Reprod Med. 2017 Jan;35(1):54–64.
et al. Medical management of endometriosis. Clin Obstet Gynecol. 2017 Sep;60(3):485–96.
et al. Pelvic vein incompetence: clinical perspectives. Vasc Health Risk Manag. 2017 Nov 27;13:439–47.
et al. A pilot randomized trial of levator injections versus physical therapy for treatment of pelvic floor myalgia and sexual pain. Int Urogynecol J. 2015 Jun;26(6):845–52.
ESSENTIALS OF DIAGNOSIS
Infection, malignancy, and extramammary conditions can cause breast pain.
Abnormal physical examination findings, such as a breast mass or skin abnormalities, should prompt radiographic imaging.
Breast pain, or mastalgia, is categorized as cyclical, noncyclical, or extramammary. Approximately two-thirds of patients with breast pain experience cyclical mastalgia, which is caused by the effects of ovulation-induced hormonal fluctuations on glandular breast tissue. Similarly, women who take combined oral contraceptives or hormone replacement therapy may also experience cyclical mastalgia. Noncyclical mastalgia has no relationship to the menstrual cycle and can occur in premenopausal or postmenopausal women. Causes of noncyclical mastalgia include large breast size (with stretching of Cooper ligaments), medications, pregnancy, thoracic vein thrombophlebitis, or breast cancer. Extramammary mastalgia is caused by pain that is referred from other anatomic locations, including the chest wall, heart, gallbladder, or spine. Trauma or previous surgery may also produce extramammary pain.
Cyclical mastalgia is typically diffuse and bilateral and is associated with the menstrual cycle or hormonal therapies that are administered cyclically (contraception or hormone replacement). Conversely, noncyclical mastalgia, which may be constant or intermittent, is variable in location and can involve one or both breasts. Patients with noncyclical pain related to breast malignancy may describe progressively intense discomfort. Chest wall pain, a frequent cause of extramammary mastalgia, typically causes unilateral, burning pain that may be either localized or diffuse.
A careful physical examination is essential in all women who report breast pain. Women with large, pendulous breasts may have noncyclical mastalgia. Extramammary causes of mastalgia, such as inflammation of the pectoralis major muscle or costochondral junction, can usually be diagnosed through careful palpation. Mondor disease, which is caused by superficial thrombophlebitis of the lateral thoracic vein, is associated with a red, tender, palpable cord.
An ultrasound, mammogram, or both should be obtained in women who have a palpable breast mass or in whom Mondor disease is suspected since this diagnosis may be associated with breast cancer.
Additionally, imaging may be considered for women who experience noncyclical, unilateral, or localized mastalgia that is not clearly associated with a specific diagnosis. According to the American College of Radiology Appropriateness Criteria, ultrasound is the preferred imaging modality for women under the age of 30 because it is more accurate than mammography in this age group. Mammography and ultrasonography should be performed in women over the age of 40, and use of both imaging modalities should also be considered in select patients between the ages of 30 and 39.
Women who are up-to-date on routine screening mammography, present with cyclical or nonfocal bilateral breast pain, and have normal physical examination findings do not require additional breast imaging.
Malignancy must be ruled out in all patients with mastalgia, and this is usually accomplished through a careful history, physical examination, and diagnostic imaging in patients with clinical abnormalities, such as a palpable breast mass. Extramammary causes of breast pain include chest wall pain, spinal or gallbladder disease, and myocardial ischemia. Cyclical and noncyclical mastalgia are easily differentiated by assessing the temporal relationship between the patient's pain and her menstrual cycle or cyclical hormonal treatment.
Women with cyclical mastalgia who have a normal physical examination and are up to date on routine mammographic screening should be reassured about the benign nature of their symptoms and monitored closely. Cyclical and noncyclical mastalgia often improve with use of a supportive bra. Topical NSAIDs, such as diclofenac gel or patch, improve localized breast pain. Women who experience mastalgia related to combined hormonal contraception may benefit from skipping the hormone-free week, whereas postmenopausal women may consider minimizing the dose of hormone therapy or discontinuing it altogether. Tamoxifen, a selective estrogen receptor modulator, is effective for the treatment of moderate to severe cyclical mastalgia that has not responded to conservative therapy. Symptoms are reduced in up to 75% of women who are treated for 3 months. Danazol, the only FDA-approved medication for cyclical mastalgia, is also effective, but is associated with significant side effects (nausea, headaches) and is contraindicated in women who are attempting to become pregnant.
Symptoms of cyclical and noncyclical mastalgia improve without pharmacologic treatment in most women.
Patients with mastalgia and a palpable breast mass should be referred to a breast specialist.
ACOG Committee on Practice Bulletins—Gynecology. Practice Bulletin No. 164: Diagnosis and management of benign breast disorders. Obstet Gynecol. 2016 Jun;127(6):e141–56.
et al. ACR Appropriateness Criteria(®): Breast pain. J Am Coll Radiol. 2017 May;14(5S):S25–33.
et al. Benign breast diseases: evaluation and management. Clin Obstet Gynecol. 2016 Dec;59(4):710–26.
ESSENTIALS OF DIAGNOSIS
Diagnostic imaging is essential for any woman with a palpable dominant breast mass, regardless of her age.
Digital breast tomosynthesis (DBT) provides a three-dimensional view of the breast that enhances standard mammographic views and is an accepted imaging modality for evaluation of a palpable breast mass.
Ultrasound is the initial test of choice for women under the age of 30. In women over the age of 40, diagnostic mammography with or without ultrasonography or digital breast tomosynthesis are the preferred imaging modalities.
In women between the ages of 30 and 39, ultrasound is the preferred initial imaging modality, although diagnostic mammography or digital breast tomosynthesis may be considered in the setting of a concerning clinical exam or significant risk factors.
Palpable breast masses may be detected by a patient during breast self-examination, or may be identified by the provider during a routine physical examination. A breast mass may be a presenting symptom of breast cancer, and thus a thorough work-up of any palpable breast mass is essential, regardless of age and personal risk factors for breast cancer (see Chapter 17). Benign causes of palpable breast masses include fibroadenomas, cysts, and hamartomas.
Clinicians should ask patients about temporal changes in the mass shape and size, as well as associated symptoms, including pain, skin thickening, and nipple discharge. A patient's personal risk for breast cancer should be assessed, including age, previous breast biopsies, family history, and age at menarche and first pregnancy.
The location of the mass should be described using the clock-face position and distance from the nipple, as this aids the radiologist in the diagnostic evaluation. Clinicians should note the size, site, mobility, and texture of the mass, as well as areas of skin dimpling, retraction, or erythema. A thorough examination of the axillary and supraclavicular lymph node areas is essential. Some women may have areas of indeterminate thickening in the absence of a discrete and well-defined palpable mass; if this finding is asymmetric it should be evaluated further with diagnostic imaging.
B. Diagnostic Tests and Imaging
As noted above, all women with a dominant palpable breast mass require diagnostic imaging. Approved imaging techniques include diagnostic mammography, DBT, and ultrasonography. Diagnostic mammography consists of the standard views that are used in screening mammography, plus additional views, such as spot-compression and magnification, to better delineate the area of concern. DBT provides a three-dimensional view of the breast and may be used in place of diagnostic mammography in centers that offer this imaging technique. The breast ultrasound is the most sensitive test for distinguishing a cystic from a solid lesion, and also provides detailed information regarding the shape, borders, and acoustic properties of an identified mass. In addition, ultrasonography can be used to guide the biopsy of suspicious lesions.
For women under the age of 30, ultrasonography is the initial diagnostic test of choice because the dense breast tissue found in younger women limits the sensitivity of mammography. Diagnostic mammography or DBT should be performed in women aged 40 or older with a palpable breast mass. In women between the ages of 30 and 39, ultrasonography is the preferred initial imaging test, although diagnostic mammography or DBT can be considered in high-risk patients (according to physical exam findings or clinical risk factors). Combining ultrasonography with diagnostic mammography may increase the sensitivity of testing; some benign palpable masses may only be visualized on ultrasound.
The differential diagnosis of palpable masses includes benign etiologies, such as simple cysts, fibroadenomas, hamartomas, and phyllodes tumor. Breast cysts are common, affecting nearly one-third of women aged 35–50 years. Breast cancer, including ductal carcinoma in situ, invasive lobular carcinoma, and invasive ductal carcinoma, can also initially present with a palpable breast mass. Certain history and physical examination features may be suggestive of a particular diagnosis. Patients with phyllodes tumor may report rapid growth of a large, painless breast mass. Fibroadenomas typically affect women between the ages of 20 and 40 years and present as firm, nontender, and mobile masses on physical examination. Cysts are solitary, smooth, and firm and are associated with changes in the menstrual cycle.
A. Women Younger Than 30 Years
In this age group, management of the palpable breast mass depends on the clinician’s suspicion for malignancy as well as the results of the initial ultrasound. Masses with a low likelihood of malignancy in the setting of a normal ultrasound do not require any additional radiologic testing. Highly suspicious masses that appear normal on ultrasound should be further evaluated with diagnostic mammography or DBT.
Simple cysts can be followed expectantly, whereas a complex cyst may require additional evaluation with fine-needle aspiration and cytology or with biopsy. Cysts can be categorized as probably benign, suspicious, or highly suspicious based on their ultrasound characteristics. Again, if clinical concern for malignancy is high, even patients with probably benign findings on ultrasound (or mammogram) should be referred for biopsy. All patients with suspicious or highly suspicious findings require biopsy.
B. Women Aged 30–39 Years
In women between the ages of 30 and 39, the imaging modalities may include ultrasonography, diagnostic mammography, or DBT. Ultrasonography may be more sensitive than mammography in this age group, and so may be the preferred first test. However, women with significant risk factors for breast cancer or a worrisome physical examination should be initially referred for diagnostic mammography or DBT.
If the results of the initial ultrasound are normal and there is a low likelihood of malignancy, no additional radiologic evaluation is necessary. Suspicious masses that are detected by ultrasonography require follow-up imaging with bilateral mammography.
Women who undergo diagnostic mammography or DBT as the initial imaging test and are noted to have a mass with benign features should have a breast ultrasound performed for correlation. The results of that ultrasound, as well as clinical suspicion, dictate the need for further imaging. When ultrasound findings suggest a benign mass, patients may be monitored clinically or may require short-term radiologic follow-up. In contrast, patients with suspicious findings should be referred for biopsy.
C. Women Aged 40 Years and Older
Diagnostic mammography and DBT are the initial tests of choice in women age 40 years and older with a palpable breast mass. If the mammography or DBT results are negative, benign, or probably benign, then additional management depends on clinical suspicion and breast ultrasound results. In the setting of a low clinical suspicion for malignancy, masses with negative ultrasound results can be monitored closely. Conversely, in the setting of worrisome history or physical examination findings, tissue biopsy should be pursued even if both mammogram and ultrasound are normal.
The management of simple cysts in women age 40 years and older is similar to that in younger women. Solid masses that are classified as probably benign on mammogram and ultrasound should be monitored very closely if clinical suspicion is low but otherwise referred for biopsy. Biopsy is recommended to evaluate any mass that appears suspicious or highly suspicious on ultrasound or diagnostic mammogram.
Certain benign breast masses may be classified as nonproliferative (breast cysts, ductal ectasia) or proliferative (sclerosis, adenosis, radial scars, ductal hyperplasia, intraductal papilloma). Proliferative lesions are associated with a slightly increased risk of subsequent breast cancer diagnosis, although the absolute risk is low in most patients.
All patients with suspicious or highly suspicious masses on diagnostic imaging (diagnostic mammography, DBT, or ultrasonography) should undergo breast biopsy, regardless of age.
Even when diagnostic mammogram and ultrasound are normal, all women should be referred to a breast specialist if clinical suspicion for malignancy is high.
ACOG Committee on Practice Bulletins—Gynecology. Practice Bulletin No. 164: Diagnosis and management of benign breast disorders. Obstet Gynecol. 2016 Jun;127(6):e141–56.
et al. ACR Appropriateness Criteria(®): Palpable breast masses. J Am Coll Radiol. 2017 May;14(5S):S203–24.
et al. Benign breast diseases: evaluation and management. Clin Obstet Gynecol. 2016 Dec;59(4):710–26.
ASYMPTOMATIC OVARIAN MASSES
ESSENTIALS OF DIAGNOSIS
Transvaginal ultrasound is the preferred test for evaluating an ovarian mass in both premenopausal and postmenopausal women.
CA-125 is a useful tumor marker for the evaluation of ovarian masses in postmenopausal women but has limited utility in premenopausal women.
The Risk for Malignancy Index (RMI) is a helpful tool for assessing the risk of malignancy in women with an ovarian mass.
Ovarian masses are common, affecting up to 20% of women. Many of these masses are found incidentally, often as part of a radiologic work-up for another symptom, such as abdominal pain. Although the vast majority of ovarian masses in premenopausal women are benign, the incidence of ovarian cancer increases with age. Additionally, up to 10% of suspected ovarian masses may be related to nonovarian disease (see eTable 18–3 for more details). The role of the primary care clinician is to provide prompt referral to a gynecologist or gynecologic-oncologist based on the likelihood of malignancy and the need for potential surgical management.
Although many ovarian masses are discovered incidentally, patients should be asked about any potential symptoms that might be associated with ovarian malignancy, such as persistent abdominal bloating, anorexia, early satiety, pelvic or abdominal pain, or increased urinary urgency and frequency. Clinicians should also assess the patient’s underlying risk by obtaining a thorough family history, especially with regards to diagnoses of breast, uterine, colon, or ovarian cancers.
Although the physical examination is relatively insensitive for the diagnoses of ovarian masses, it is important to examine for any associated findings, such as lymphadenopathy. Palpable pelvic masses that are irregular, solid, fixed, nodular, bilateral, or associated with ascites are particularly concerning for malignancy, and should prompt urgent referral to a gynecologist.
B. Diagnostic Tests and Imaging
Serum CA-125 is a biomarker that is expressed by the majority of epithelial ovarian cancers. However, its serum level is also elevated in other benign conditions in premenopausal women, such as endometriosis, pelvic inflammatory disease, and adenomyosis. As a result, the serum CA-125, by itself, is unreliable for assessing the risk of ovarian cancer in reproductive-age women (sensitivity 50–74%, specificity 26–92%). In contrast, in postmenopausal women, the serum CA-125 is more useful for differentiating benign conditions from ovarian cancer. As a consequence, the serum CA-125 is routinely measured in the assessment of ovarian masses in postmenopausal women. A CA-125 value above 35 units/mL is considered abnormal, but rising levels on serial determinations are more helpful than a single value. Serum lactate dehydrogenase (LD), alpha fetoprotein (AFP), and human chorionic gonadotropin (hCG) may be elevated in germ cell tumors, and these markers should be ordered in premenopausal women (under age 40 years) who have complex ovarian masses on ultrasound imaging. Although measuring CA-125 can be useful in the evaluation of an ovarian mass, evidence does not support the use of serum CA-125 in routine screening for ovarian cancer in asymptomatic women.
Transvaginal ultrasound is the diagnostic test of choice in any premenopausal or postmenopausal woman presenting with an ovarian mass. Ultrasonography should be performed by clinicians with expertise in gynecologic imaging who can provide a thorough description of the morphology and ultrasonographic features of the mass.
Ultrasound detection of a simple cyst is associated with a benign process in 95–99% of postmenopausal women. Simple cysts are characterized by a round or oval shape, a thin wall, posterior acoustic enhancement, anechoic fluid, and an absence of septations or nodules. Complex cysts may have solid components, septations, and papillary projections.
Ovarian masses may be characterized according to the International Ovarian Tumor Analysis (IOTA) “rules” (http://www.iotagroup.org/), which help to differentiate benign from malignant ovarian masses processes (sensitivity 95%, specificity 91%). According to the IOTA classification, an ovarian mass is suspicious of being malignant when any of the following features are present: irregular multilocular solid tumor with largest diameter greater than 1 cm, four or more papillary structures, ascites, prominent blood flow on color Doppler. If an ovarian mass is suspected of being malignant, the patient should be urgently referred to a gynecologic oncologist.
Ovarian masses may be benign, malignant (both primary and secondary malignancy) or nonovarian in origin. See eTable 18–3 for additional details regarding differential diagnosis.
In women with an ovarian mass, management depends on the likelihood of malignancy, as determined by radiographic features, menopausal status, and measurement of tumor markers (in appropriate patients). Strategies include conservative management, close monitoring with surveillance imaging, or referral for surgical intervention. Since the risk of ovarian cancer increases with age, a patient’s menopausal status is a critical determinant for guiding management decisions, as detailed below.
Simple asymptomatic cysts that are less than 5 cm in diameter typically resolve over two or three menstrual cycles and do not require any further management. Pelvic ultrasound should be repeated yearly in women with simple cysts that are 5–7 cm in diameter. Women with larger cysts (greater than 7 cm) should be referred for gynecologic evaluation.
Premenopausal women with complex cysts or ovarian masses that have worrisome features on ultrasound should be referred for gynecologic evaluation. In these situations, measurement of the serum CA-125 may be helpful in guiding management. Serum CA-125 levels that are less than 200 units/mL may be associated with benign gynecologic conditions, such as endometriosis, whereas levels greater than 200 units/mL (and especially if rising on serial determinations) are concerning for ovarian cancer and should prompt consultation with a gynecologic oncologist.
Guidelines recommend measurement of serum LD, AFP, and hCG levels in all women under the age of 40 who present with a complex ovarian mass, in order to assess for the possibility of germ-cell tumors.
The serum CA-125 level should be measured in all postmenopausal women with an ovarian mass. This value can then be used in calculating the RMI, which has a high sensitivity and specificity for predicting the likelihood of ovarian cancer. The RMI is a product of the patient’s menopausal status, serum CA-125 level, and ultrasound score (higher scores assigned according to the presence of ascites, solid areas, metastases, multilocular and bilateral lesions). Using a cut-off value of 200, the RMI has a sensitivity of 78% and specificity of 87% for differentiating malignant from benign ovarian lesions.
If the RMI is less than 200, postmenopausal women with asymptomatic, small (less than 5 cm), unilocular and unilateral simple cysts can be monitored with surveillance imaging. Guidelines recommend repeat assessment with a transvaginal ultrasound and CA-125 measurement in 4–6 months; masses that are enlarging or have any change in features should be referred for gynecologic evaluation and possibly surgical intervention. If the mass is stable or decreasing in size, repeat ultrasound and CA-125 measurement is recommended again in 6 months. At that time, women with a persistently stable mass on imaging and a normal CA-125 may be discharged from follow-up.
Postmenopausal women with an ovarian mass and a calculated RMI greater than or equal to 200 have an increased risk of malignancy. A CT scan of the abdomen and pelvis should be performed to more fully stage disease extent, and these women may be referred to a gynecologic oncologist for additional evaluation and possible surgery.
et al. Evaluation and management of ultrasonographically detected ovarian tumors in asymptomatic women. Obstet Gynecol. 2016 May;127(5):848–58.
M. Investigation and management of an ovarian mass. Aust Fam Physician. 2015 Jan–Feb;44(1–2):48–52.
Female pattern hair loss is the most common type of alopecia in women. It is classified as a form of nonscarring alopecia and may be associated with diffuse or pattern-specific hair loss. Female pattern hair loss is characterized by shortening of the hair growth (anagen) phase, shedding of terminal hairs, follicular miniaturization, and prolongation of the resting phase (telogen), during which the hair follicle remains empty. Patients may report increased hair shedding or thinning in the frontal areas, along with a widened midline part. On examination, patients with female pattern hair loss appear to have a normal scalp, without evidence of inflammation or scarring; follicular orifices are present. Additionally, the “pull test” (greater than 6 hairs extracted with firm grasping and pulling of 50–60 hairs) may be positive, although this test is not specific for female pattern hair loss. There are no laboratory abnormalities associated with this condition, although some clinicians recommend checking serum thyroid, iron, zinc, and vitamin D levels. The majority of women with female pattern hair loss have normal serum testosterone levels. However, clinicians should perform testosterone, DHEAS, and prolactin testing in any patient presenting with female pattern hair loss and other signs of hyperandrogenism, such as virilization or severe acne.
The goals of treatment are to slow hair loss and to stimulate new hair growth. Topical minoxidil is currently the only medication that is FDA-approved for the treatment of female pattern hair loss. Twice-daily application of topical minoxidil 2% solution increases hair growth and is well-tolerated. Noticeable improvement may require at least 12 months of treatment, and hair loss will resume if the medication is stopped. Side effects of minoxidil include facial hypertrichosis, scaling, and dryness. Although finasteride, a 5-alpha–reductase inhibitor, is effective for the treatment of male pattern hair loss, there are few data to support its use in female pattern hair loss. The results of a systematic review demonstrated that low-level light therapy increases total hair count; it may be used as adjunctive treatment. Data are limited regarding the efficacy and safety of spironolactone, dutasteride, and cyproterone acetate, and these agents should not be used as first-line therapies.
et al. Hair loss in women. Clin Obstet Gynecol. 2015 Mar;58(1):185–99.
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