Back issues No.4 - 1993 / Case Report  

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Homozygous Familial Hypercholesterolemia with Xanthomas
Chi-Fang Chu, Han-Nan Liu, Chu-Kwan Wong
Dermatol Sinica 11: 287-295, 1993

Homozygous familial hypercholoesterolemia is a very rare autosomal dominantly inherited metabolic disease. Cutaneous and tendinous xanthomas usually evolves in the first few years of life. Death due to premature coronary atherosclerosis usually occurrs before age 20. We herein present a case of 12-year-old girl, who developed tuberous, tendinous, and unique elevated planar xanthomas on the buttocks, knees, elbows, ankles, and the extensor aspect of hands by age one. Symptoms of cardiac involvement appeared in the last year of her life. Laboratory data showed a marked elevation of the plasma total cholesterol, which was up to 646 mg/dl, LDL, and apoprotein B, but the concentration of triglyceride was within normal limits. Multiple arteries showed atheromas and atherosclerosis. Most of her family members also have hyperlipidemia. Consanguineous marriage was noted in her parents. Even though under low lipid diet control and medical treatment, this patient died of acute heart failure.

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