A case of refractory type III hyperlypoproteinemia successfully treated with plasmapheresis

Kırkiki yaşındaki bir erkek hasta var olan hipertrigliseritemi ve hiperkolesterolemisini araştırmak üzere endokrinoloji kliniğine yatırıldı. Hastanın fizik muayenesi dirsek, diz ve ayak bileğinde var olan ksantomlar dışında normaldi. PCR ile değerlendirilen Apo E genotipi E2/E2 olarak belirlendi. Hastanın tedavisi için ilk önce atorvastatin 40 mg/gün ve nikotinik asit 1500mg/gün dozunda başlandı, ancak üç ayın sonunda bu tedaviye cevap alınamadığı gözlendi. Sonra hastaya haftada iki kez plazmaferez uygulandı, üç hafta sonrasında total kolesterol ve trigliserit düzeyleri anlamlı olarak azaldığı görüldü. Sonuç olarak konvensiyonel tedavilere cevap vermeyen ciddi tip III hiperlipidemi olgularında plazmaferez, lipoproteinlerin ortamdan uzaklaştırılmasını sağlar ve lipid profilinde genel bir iyileşme oluşturur.

Plazmaferez ile başarılı bir şekilde tedavi edilen, ciddi tip III hiperlipoproteinemili bir olgu

A 42-year-old male was hospitalized in Department of Endocrinology for evaluation of persistent hypertriglyceridemia and hypercholestrolemia. He was normal on physical examination except having multiple xanthomas in elbow, knee and ankle. ApoE genotyping was performed by PCR and apoE phenotype was found to be E2/E2. Firstly, he was treated with atorvastatin (40mg/day) and niacin (1500mg/day) but it was found that the patient did not respond the after three months of the treatment. Then he was treated with plasmapheresis twice a week. After three weeks of plasmapheresis treatment triglyceride and cholesterol levels was markedly decreased. Plasmapheresis can be highly effective in removing the lipoproteinremnant particles, leading to generalized improvement in the lipoprotein profile in severe type III hyperlipidemia, which do not respond conventional threapies as in our case.

___

  • 1. Mahley RW, Rall SC Jr. Type III hyperlipoproteinemia(dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. McGraw-Hill, 7th edition. New York, 1995: 1953–1980. 2. Durrington PN. Hyperlipidaemia: diagnosis and management. 2nd edition, 1995, Butterworth-Heinemann Limited. 3. Feussner G, Wagner A, Kohl B, Ziegler R. Clinical features of type III hyperlipoproteinemia: analysis of 64 patients. Clin Investig, 1993; 71:362-6. 4.Utermann G. Genetic polymorphism of apolipoprotein E—impact on plasma lipoprotein metabolism. In Diabetes, Obesity and Hyperlipidemias—III. Crepaldi G, Tiengo A, Baggio G, editors. Elsevier Science Publishers, 1985, Amsterdam. 1;-28. 5. Hazzard WR, O’Donnell TF, Lee YL. Broad-beta disease (type III hyperlipoproteinemia) in a large kindred: evidence for a monogenic mechanism. Ann Intern Med, 1975; 82:141–149. 6. Sakuma N, Iwata S, Ikeuchi R, Ichikawa T, et al. Coexisting type III hyperlipoproteinemia and familial hypercholesterolemia: a case report. Metabolism, 1995; 44:460-465. 7. Mahley RW, Huang Y, Rall SC. Pathogenesis of type III hyperlipoproteinaemia (dysbetalipoproteinemia): questions,quandaries and paradoxes. J Lipid Res, 1999; 40:1933– 1949. 8. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Artheriosclerosis, 1988: 8:1- 21. 9. Stoffel W, Greve V, Borberg H. Application of specific extracorporeal removal of low-density lipoprotein in familial hypercholesterolemia. Lancet, 1981; 2:1005-7. 10. Mabuchi H, Michishita I, Takeda M, et al. A new LDL apheresis system using two dextran sulfate cellulose columns in an automated column regenerating unit. Atherosclerosis, 1987; 68:19-25.
Dicle Tıp Dergisi-Cover
  • ISSN: 1300-2945
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1963
  • Yayıncı: Cahfer GÜLOĞLU