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Section 46.—Hyperlipoproteinemia
JAMA. 1973;224(Suppl 5):769.
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Osteoarticular manifestations are an important feature of certain of the heritable disorders of lipid transport or lipoprotein metabolism.1 In the case of type II hyperlipoproteinemia (essential familial hypercholesterolemia) there is tendinous, tuberous, and periosteal xanthomatosis, as well as xanthelasma, corneal arcus, and a tendency toward early atherosclerosis. Xanthomas are located in the Achilles tendons, patellar tendons, and the extensor tendons of the hands and feet, as well as in the plantar aponeurosis and the fascia and periosteum overlying the lower tibia (Fig 74).2 The tuberous lesions occur over extensor surfaces, including elbows, knees, and hands, as well as the buttocks. Type II hyperlipoproteinemia is transmitted as a simple autosomal dominant trait with high penetrance.1 In those individuals who are homozygous with respect to the abnormal gene, xanthomatosis usually appears in childhood and tends to be extensive; in the heterozygous state, the serum lipid and lipoprotein abnormalities are
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