Answer:

FH is an autosomal dominant disorder due to a mutation in the LDL receptor (causing a deficient or defective receptor) that leads to altered LDL catabolism and increased cholesterol synthesis. Approximately 1/500 people are heterozygous carriers of a mutation and 1/1,000,000 are homozygous for the disorder. Such people have much higher rates of premature atherosclerosis and can have myocardial infarctions at a very young age. Physical exam often reveals tendinous xanthomas (cholesterol deposition in the extensor tendons) and corneal arcus. Management is aimed at aggressive LDL-lowering to reduce cardiovascular risk.

Reference: Larson PR, et al: Williams Textbook of Endocrinology, 10th ed. Philadelphia, W.B. Saunders, 2003.

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