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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 223-1

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.)

Figure 223-2

Eruptive xanthomas on the arm and trunk of the man in Figure 223-1. (Courtesy of Richard P. Usatine, MD.)

Figure 223-3

Eruptive xanthomas covering most of the body of the man in Figure 223-1. (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 ...

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