[Diagnosis and effective therapy with plasmapheresis in a patient with homozygous familial hypercholesterolemia]

The case of a 17-year-old boy with the homozygous form of familial hypercholesterolaemia is reported. The patient presented tuberous and tendinous xanthomas, arcus lipoides, complete occlusion of the LAD of the coronary arteries, a characteristic family history, and total cholesterol levels greater than 600 mg/dl. Among the available therapeutic regimens we decided to perform plasma exchange treatment, which was introduced by Thompson in 1973 as therapy of this metabolic disorder. After each plasmapheresis, performed so far 7 times, the cholesterol and LDL-cholesterol concentrations dropped to normal levels; they increased again within the next 3 weeks, without, however, reaching the pretreatment levels. Undergoing this treatment, the xanthomas decreased markedly; there are reasons to assume that atherosclerotic lesions might also decrease during this treatment.