Heterozygous Familial Hypercholesterolemia

A 56-year-old woman was referred for management of severe hyperlipidemia. Her family history included hypercholesterolemia and premature coronary artery disease.

The patient had been treated with various hypolipidemic drugs, including cholestyramine, fenofibrate, bezafibrate, and small doses of statins. Although she was noncompliant with her prescribed diet and drug regimens, the serum lipid parameters had improved slightly.

Drs E. Rizos, K. Basioukas, and Moses Elisaf of Ioannina, Greece, examined the patient and noted tendinous xanthomata on the Achilles tendons, elbows, and the dorsum of the hands. The patient's serum cholesterol level was 390 mg/dL; low-density lipoprotein level, 300 mg/dL; and high-density lipoprotein level, 42 mg/dL. Triglycerides measured 140 mg/dL. The suspected diagnosis of heterozygous familial hypercholesterolemia was confirmed by genetic analysis.

Atorvastatin, 40 mg/d, was initiated. Significant improvement in the patient's lipid profile was noted; total cholesterol was 255 mg/dL; low-density lipoprotein level, 190 mg/dL; high-density lipoprotein level, 45 mg/dL; and triglycerides, 100 mg/dL. No changes in the tendinous xanthomata were observed, however.