Korean J Med > Volume 77(5); 2009 > Article
The Korean Journal of Medicine 2009;77(5):620-624.
A case of type 3 hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas
Eun Young Kim, Ki Woo Seo, Jung Eun Kim, Eun Jeong Cho, Wang Soo Lee, Chee Jeong Kim, Kap Sok Li
전신적인 발진성, 결절성 황색종을 동반한 제3형 고지단백혈증 1예
김은영, 서기우, 김정은, 조은정, 이왕수, 김치정, 이갑석
Abstract
A 55-year-old female presented with extensive yellowish eruptive plaques over both elbows and the buttocks that she had first noticed 2 years earlier. Yellowish orange discoloration of her palmar creases was noted. Her serum cholesterol and triglyceride were markedly elevated. Lipoprotein electrophoresis showed a broad β band. On apolipoprotein E genotyping, the arginine at position 158 had been replaced by cysteine in both alleles (E2/E2). Under a diagnosis of type III hyperlipoproteinemia, combined atorvastatin and fenofibrate therapy for 2 months normalized the serum cholesterol and triglyceride levels.
Key Words: Type 3 hyperlipoproteinemia; Apolipoprotein E


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