Familial hypercholesterolemia. What the zebra can teach us about the horse

Abstract

SELECTED CASES Case 1 A 6-year-old boy was referred to the National Institutes of Health (NIH) in 1974 for evaluation of xanthomas and hypercholesterolemia. Raised, yellowish plaques had first appeared between his fingers at the age of 4 years. When he was 6 years of age, his pediatrician also noted the presence of tuberous xanthomas on his elbows and knees. After it was determined that his blood cholesterol level was 29.2 mmol/L (1120 mg/dL), the patient was referred to the NIH for evaluation and treatment. Physical examination disclosed the presence of planar and tuberous xanthomas on the hands (Fig 1, A), circumferential arcus corneae (Fig 1, B), and tuberous xanthomas on the elbows (Fig 1, C). Planar xanthomas on the knees were also detected (Fig 1, D). Cardiac examination disclosed a normal S1 and S2, but a III/VI systolic ejection murmur at the left base radiated throughout the precordium and