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전신적인 발진성, 결절성 황색종을 동반한 제3형 고지단백혈증 1예

A case of type 3 hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas

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참고문헌

키워드

주제분류내과학

초록

저자들은 55세 여자 환자에서 전신적으로 발생한 발진성, 결절성 황색종을 동반한 제3형 고지단백혈증을 경험하였기에 보고하는 바이다.

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 On apolipoprotein E genotyping, the arginine at position 158 had been replaced by cysteine in both alleles (E2/E2).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.

참고문헌 (19)

  1. Schaefer EJ, "Familial apolipoprotein E deficiency", J Clin Invest, 78, pp.1206~1219 (1986)
  2. Mahley RW, "Apolipoprotein E: cholesterol transport protein with expanding role in cell biology", Science, 240, pp.622~630 (1988)
  3. Mahley RW, "Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): questions, quandaries, and paradoxes", J Lipid Res, 40, pp.1933~1949 (1999)
  4. Havel RJ, "Familial dysbetalipoproteinemia: new aspects of pathogenesis and diagnosis", Med Clin North Am, 66, pp.441~454 (1982)
  5. Utermann G, "Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man", Nature, 269, pp.604~607 (1977)
  6. Zannis VI, "Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and post-translational modification", Biochemistry, 20, pp.1033~1041 (1981)
  7. Zannis VI, "Proposed nomenclature of apoE isoproteins, apoE genotypes and phenotypes", J Lipid Res, 23, pp.911~914 (1982)
  8. Rall SC Jr, "Human apolipoprotein E: the complete amino acid sequence", J Biol Chem, 257, pp.4171~4178 (1982)
  9. Weisgraber KH, "Human E apoprotein heterogeneity: cysteine‐arginine interchanges in the amino acid sequence of the apo‐E isoforms", J Biol Chem, 256, pp.9077~9083 (1981)
  10. Sing CF, "Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation", Am J Hum Genet, 37, pp.268~285 (1985)
  11. Kamboh MI, "Genetic studies of human apolipoproteins: XII. population genetics of apolipo‐proteins in Papua New Guinea", Am J Hum Biol, 2, pp.17~23 (1990)
  12. Utermann G, "Apolipoprotein E polymorphism in health and disease", Am Heart J, 113, pp.433~440 (1987)
  13. Lim HU, "Type III hyperlipoproteinemia associated with generalized tuberoeruptive xanthomas", Korean J Clin Pathol, 21, pp.269~273 (2001)
  14. 이범주, "제 3형 과지질단백혈증", 대한피부과학회지, 31, pp.236~240 (1993)
  15. Brown MS, "Familial type 3 hyperlipoproteinemia (dysbetalipoproteinemia). in: The metabolic basis of inherited disease. 5th ed", pp.655~671 (1983), McGraw Hill
  16. Brewer HB Jr, "Type Ⅲ hyperlipoproteinemia: diagnosis, molecular defects, pathology and treatment", Ann Intern Med, 98, pp.623~640 (1983)
  17. Parker F, "Xanthomas and hyperlipidemias", J Am Acad Dermatol, 13, pp.1~30 (1985)
  18. Davignon J, "Apolipoprotein E poly‐morphism and atherosclerosis", Arteriosclerosis, 8, pp.1~21 (1988)
  19. Yeshurun D, "Drug treatment of hyperlipidemia", Am J Med, 60, pp.379~396 (1976)

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