A 27-year-old Hispanic man reported new painful nonpruritic bumps, which started 6 months ago, over his entire body. The patient had not seen a physician for 10 months and had run out of his oral medicines for type 2 diabetes mellitus. His grandmother had a milder version of bumps like this years ago. The firm yellowish papules were present all over his body from the neck down (Figures 223-1, 223-2, and 223-3). Laboratory evaluation revealed a random blood sugar of 203, a fasting triglyceride level greater than 7000 mg/dL, and total cholesterol greater than 700 mg/dL. High-density lipoproteins were 32 mg/dL, and there were no chylomicrons present. The patient was diagnosed with xanthomas, poorly controlled diabetes mellitus, and hyperlipidemia, and was started on metformin, gemfibrozil, and a β-hydroxy-β-methylglutaryl-coenzyme A (HMG-CoA)-reductase inhibitor.
Figure 223-1Graphic Jump Location
Close-up of eruptive xanthomas on the arm of a 27-year-old man with untreated hyperlipidemia and diabetes.1 (Courtesy of Richard P. Usatine, MD.)
Hyperlipidemia refers to an elevated concentration of one or more of the measured serum lipid components (total cholesterol [TC], low-density lipid [LDL], high-density lipoprotein [HDL], and triglycerides [TGs]). Xanthomas are a skin manifestation of familial or severe secondary hyperlipidemia, although they can occur in patients with normal lipid levels. Hyperlipidemia is a major modifiable risk factor for cardiovascular disease.
- During 2005 to 2006, 15.7% of adults in the United States had a high serum TC level.1 The average cholesterol level of adults ages 20 to 74 years decreased from 222 mg/dL in 1959 to 1962 to 197 mg/dL in 2007 to 2008, reaching the Healthy People 2010 goal.2
- An estimated 34% of the adult population had high LDL-C during 2005 to 2008 (LDL-C levels above the recommended goal levels or reported current use of cholesterol-lowering medication).3
- Among young adults (ages 12 to 19 years), 20.3% had abnormal lipids; boys are more likely than girls to have at least 1 lipid abnormality (24.3% vs. 15.9%, respectively).4
- Patients with homozygous familial hypercholesterolemia (FH) (1 in 1 million persons worldwide) present in childhood with cutaneous xanthomas on the hands, wrists, elbows, knees, heels, or buttocks.5
- Patients with heterozygous FH (1 in 500 persons worldwide) can present as adults with tendon xanthomas.
- Lipoproteins are complexes of lipids and proteins essential for transporting cholesterol, TGs, and fat-soluble vitamins.
- Elevated levels can result from genetically based derangement of lipid ...