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PATIENT STORY

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 232-1, 232-2, 232-3). 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 232-1

Close-up of eruptive xanthomas on the arm of a 27-year-old man with untreated hyperlipidemia and diabetes. (Reproduced with permission from Richard P. Usatine, MD.)

FIGURE 232-2

Eruptive xanthomas on the arm and trunk of the man in Figure 232-1. (Reproduced with permission from Richard P. Usatine, MD.)

FIGURE 232-3

Eruptive xanthomas covering most of the body of the man in Figure 232-1. (Reproduced with permission from Richard P. Usatine, MD.)

INTRODUCTION

Hyperlipidemia refers to an elevated concentration of one or more of the measured serum lipid components (total cholesterol [TC; ≥240 mg/dL], low-density lipoprotein [LDL; ≥160 mg/dL], and triglycerides [TGs; ≥200 mg/dL]), often accompanied by low high-density lipoprotein (HDL; ≤40 mg/dL). Most patients have a combination of genetic predisposition and an acquired component (see Etiology). 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.

SYNONYMS

Collectively referred to as dyslipidemias.

EPIDEMIOLOGY

  • During 2011 to 2014, 27.8% of adults in the United States had a serum TC level ≥240 mg/dL or were taking cholesterol-lowering medications.1

  • An estimated 31.7% of the adult population had high LDL-C in 2015 and less than half were receiving treatment to lower their levels.2

  • 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).3

  • Patients with homozygous familial hypercholesterolemia (FH) (1 in 1 million persons worldwide) have mutations in both alleles of the LDL receptor and present in childhood with cutaneous xanthomas on the hands, wrists, elbows, knees, heels, or buttocks.4,...

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