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An 18-year-old woman with familial hypercholesterolemia presented with a 4-year history of swelling and pain in the joints. She was born with multiple xanthomas, which grew in size as she aged. Her elder brother had had more severe xanthomatosis and had died of myocardial infarction at 30 years of age. Physical examination revealed diffuse, flat xanthomas on her elbows, knees, and buttocks and large tuberous xanthomas on her buttocks (Panel A). The joints of her hands and feet were enlarged. Laboratory tests revealed the following lipid concentrations: total cholesterol, 669 mg per deciliter (17.3 mmol per liter) (normal range, 120 . . . [Full Text of this Article] |
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