Interdigital, tendon, and gluteal xanthomas in familial hypercholesterolemia

A 21-year-old male presented with multiple asymptomatic yellowish-brown papules, plaques, and nodules over web spaces, proximal interphalangeal joints, and metacarpophalangeal joints of both hands [Figure 1a], elbows [Figure 1b], and gluteal region [Figure 1c] since the age of six years. His father had died of myocardial infarction at 39 years and his paternal uncle aged 34 years was on treatment for coronary artery disease. Investigations revealed elevated total cholesterol (723 mg/dl) and low-density lipoprotein (LDL) cholesterol (602 mg/dl). Heart echocardiography was normal. Genetic studies showed a missense mutation in the LDL-receptor gene (c.2054C > T). He was diagnosed as familial hypercholesterolemia and started on pravastatin and counselled regarding lifestyle modifications. Follow-up at the sixth month revealed persistence of xanthomas and normal cholesterol levels.

Interdigital and tendon xanthomas over both the hands. Figure 1a: Interdigital and tendon xanthomas over both the hands.

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Tendon xanthomas over the elbows. Figure 1b: Tendon xanthomas over the elbows.

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Gluteal xanthomas. Figure 1c: Gluteal xanthomas.

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