Homozygous familial hypercholesterolemia: Long term clinical course and plasma exchange therapy for two individual patients and review of the literature

Journal of Clinical Apheresis

Volumn 24, Issue 6, 2009, Pages 219-224

  Beigel, Roy ^a,b   Beigel, Yitzhak ^b,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

Author keywords

Homozygous familial hypercholesterolemia; LDL apheresis; Long term therapy

Indexed keywords

ACETYLSALICYLIC ACID; DEXTRAN SULFATE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ANGINA PECTORIS; AORTA STENOSIS; AORTA VALVE REPLACEMENT; ARTERY CALCIFICATION; ATHEROSCLEROSIS; BICUSPID AORTIC VALVE; BRAIN HYPOXIA; CARDIOGENIC SHOCK; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CORONARY ARTERY BYPASS GRAFT; CORONARY ARTERY OBSTRUCTION; DISEASE COURSE; DIZZINESS; DYSPNEA; ECHOCARDIOGRAPHY; EXERCISE TEST; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GRAFT OCCLUSION; HEART CATHETERIZATION; HEART MUSCLE ISCHEMIA; HEART VENTRICLE FIBRILLATION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; INTRAUTERINE GROWTH RETARDATION; LONG TERM CARE; MITRAL VALVE REGURGITATION; NOTE; PLASMAPHERESIS; SYNCOPE;

ADULT; CHOLESTEROL, LDL; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; PLASMA EXCHANGE; PLASMAPHERESIS;

EID: 71849107910     PISSN: 07332459     EISSN: 10981101     Source Type: Journal    
DOI: 10.1002/jca.20215     Document Type: Note

References (25)

1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, 1995, pp 1981-2030.
2. Naoumova RS, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolemia. Curr Opin Lipidol 2004;15:413-422. (Pubitemid 39061621)
3. Beigel Y, Hod M, Fuchs J, Lurie J, Friedman S, Green P, Merlob P, Melamed R, Ovadia J. Pregnancy in a homozygous familial hypercholesterolemic patient treated with long term plasma exchange. Am J Obstet Gynecol 1990;162:77-78. (Pubitemid 20055425)
4. Beigel Y, Bar J, Cohen M, Hod M: Pregnancy outcome in familial homozygous hypercholesterolemic females treated with long-term plasma exchange. Acta Obstet Gyunecol Scand 1998;77:603-608. (Pubitemid 28416504)
5. Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, van Roggen FG, van der Westhuyzen DR, Coetzee GA. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Hum Genet 1993;91:141-147. (Pubitemid 23159169)
6. Thompson GR, Lowenthal R, Myant NB. Plasma exchange in the management of homozygous familial hypercholesterolemia. Lancet 1975;1:1208-1211.
7. Thompson GR, Myant NB, Kilpatrick D, Oakley CM, Raphael MJ, Steiner RE. Assessment of long-term plasma exchange for familial hypercholesterolaemia. Br Heart J 1980;43:680-688. (Pubitemid 10058936)
8. Mabuchi H, Koizumi J, Shimizu M, Kajinami K, Miyamoto S, Ueda K, Takegoshi T. Long term efficacy of low density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia. Hokuriku-FH-LDL-Apheresis study group. Am J Cardiol 1998;82:1489-1495.
9. Makino H, Harada-Shiba M. Long-term effect of low-density lipoprotein in patients with homozygous familial hypercholesterolemia. Ther Apher Dial 2003;4:397-401. (Pubitemid 37082026)
10. von Baeyer H, Schartl M, Bimmermann A. Outcome of patients on long term low-density lipoprotein apheresis with membrane differential filtration: a case study in three patients 14 years on treatment. Ther Apher Dial 2000;4:386-394. (Pubitemid 30846249)
11. Masaki N, Tatami R, Kumamoto T, Izawa A, Shimada Y, Takamatsu T, Katsushika S, Ishise S, Maruyama Y, Yoshimoto N. Ten-year follow-up of familial hypercholesterolemia patients after intensive cholesterol-lowering therapy. Int Heart J 2005;46:833-843.
12. Hudgins LC, Kleinman B, Scheuer A, Gordon BR. Long term safety and efficacy of low-dose lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 2008;102:1199-1204.
13. Thompson GR, Heart-UK LDL Apheresis working group. Recommendations for the use of LDL apheresis. Atherosclerosis 2008;198:247-255.
14. Koga N, Watanabe K, Kurashige Y, Sato T, Hiroki T. Long-term effects of LDL apheresis on carotid arterial atherosclerosis in familial hypercholesterolaemic patients. J Int Med 1999;246:35-43. (Pubitemid 29327350)
15. Yamamoto A, Harada-Shiba M, Kawaguchi A, Tsushima M. Apheresis technology for prevention and regression of atherosclerosis. Ther Apher Dial 2001;5:221-225. (Pubitemid 33062667)
16. Chui MC, Newby DE, Panarelli M, Bloomfield P, Boon NA. Association between calcific aortic stenosis and hypercholesterolemia: is there a need for a randomized controlled trial of cholesterol-lowering therapy? Clin Cardiol 2001;24:52-55.
17. Novaro GM, Tiong IY, Pearce GL, Lauer MS, Sprecher DL, Griffin BP. Effect of hydroxymethylglutaryl coenzyme a reductase inhibitors on the progression of calcific aortic stenosis. Circulation 2001;104:2205-2209.
18. Bellamy MF, Pellikka PA, Klarich KW, Tajik AJ, Enriquez-Sarano M. Association of cholesterol levels, hydroxymethylglutaryl coenzyme-A reductase inhibitor treatment, and progression of aortic stenosis in the community. J Am Coll Cardiol 2002;40:1731-1734.
19. Cowell SJ, Newby DE, Prescott RJ, Bloomfield P, Reid J, Northridge DB, Boon NA; Scottish Aortic Stenosis and Lipid Lowering Trial, Impact on Regression (SALTIRE) Investigators. A randomized trial of intensive lipid-lowering therapy in calcific aortic stenosis. N Engl J Med 2005;352:2389-2397.
20. Brass V, Phillippe M, Greene MF. Pregnancy complicated by homozygous hypercholesterolemia. Obstet Gynecol 1985;65:756-757.
21. Kroon AA, Swinkels DW, van Dongen PWJ, Stalenhoef AFH. Pregnancy in a patient with homozygous familial hypercholesterolemia treated with long-term low-density lipoprotein apheresis. Metabolism 1994;43:1164-1170.
22. Dixon BS, Beck GJ, Vazquez MA, Grennberg A, Delmez JA, Allon M, Dember LM, Himmelfarb J, Gassman JJ, Greene T, Radeva MK, Davidson IJ, Ikizler TA, Braden GL, Fenves AZ, Kaufman JS, Cotton JR, Martin KJ, McNeil JW, Rahman A, Lawson JH, Whiting JF, Hu B, Meyers CM, Kusek JW, Feldman HI; The DAC Study Group. Effect of dipyridamole plus aspirin on hemodialysis graft patency. N Engl J Med 2009;360:2191-2201.
23. Hershcovici T, Schechner V, Orlin J, Harell D, Beigel Y. Effect of different LDL-Apheresis methods on parameters involved in atherosclerosis. J Clin Apheresis 2004;19:90-97. (Pubitemid 39006614)
24. Kojima S, Ogi M, Yoshitomi Y, Kuramochi M, Ikeda J, Naganawa M, Hatakeyama H. Changes in bradykinin and prostaglandins plasma levels during dextran-sulfate low-density-lipoprotein apheresis. Int J Artif Organs 1997;20:178-183. (Pubitemid 27211707)
25. Kojima S, Yoshitomi Y, Saotome M, Tanaka K, Shida M, Kurmochi M. Effects of losartan on low-density lipoprotein apheresis. Ther Apher Dial 1999;3:303-306.