Abstract
A boy suffering from multiple tendinous xanthomas has been diagnosed as being affected by the homozygous form of familial hypercholesterolemia (FH) at the age of 16 years. Both parents had hypercholesterolemia, the patient had total cholesterol 650, LDL-chol. 570 and LDL-Apo B of 253 mg/dl prior to treatment. Coronary angiography showed complete stenosis of LAD, the patients fibroblasts were LDL-receptor negative. Dietary and drug regimen did not show any significant cholesterol lowering; repeated plasma exchanges have been performed in order to remove the atherogenic LDL particles. In total, within 5 years 55 exchanges have been performed without any problems. During these procedures approx. 110 1 plasma has been removed, containing about 300 g pure cholesterol. Repeated coronary angiography after 4 years did not reveal any signs of a progression of the atherosclerotic process. It is concluded from the long-term observation that continuous plasma exchange is to be considered as an effective treatment of the homozygous form of FH and definitively inhibits the progression of atherogenesis.
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Widhalm, K. 5 years follow-up of a male patient homozygous for familial hypercholesterolemia treated with repeated plasma exchanges. Pediatr Res 22, 236 (1987). https://doi.org/10.1203/00006450-198708000-00139
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DOI: https://doi.org/10.1203/00006450-198708000-00139