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 |
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전신적인 발진성, 결절성 황색종을 동반한 제3형 고지단백혈증 1예 |
김은영, 서기우, 김정은, 조은정, 이왕수, 김치정, 이갑석 |
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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 On apolipoprotein E genotyping, the arginine at position 158 had been replaced by cysteine in both alleles (E2/E2).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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