COEXISTING TYPE-III HYPERLIPOPROTEINEMIA AND FAMILIAL HYPERCHOLESTEROLEMIA - A CASE-REPORT

A 39 year-old man presented with type III hyperlipoproteinemia in asso ciation with heterozygous familial hypercholesterolemia (FH). He had e xtensive tuberous xanthomas over the knees and elbows and xanthomas in the Achilles tendons. He also had palmar xanthomas. He exhibited seve re hypercholesterolemia and hypertriglyceridemia. This patient was het erozygous for FH, as evidenced by low low-density lipoprotein (LDL) re ceptor function on lymphocytes, and had type III hyperlipoproteinemia, as determined by apolipoprotein (ape) E phenotype 2/2 in isoelectric focusing of the E isoproteins and the presence of a broad beta band on electrophoresis. Because therapy consisting of diet restrictions and lipid lowering agents such as clinofibrate and niceritrol did not decr ease serum total cholesterol ([TC] 15.26 mmol/L) and triglyceride ([TG ] 10.79 mmol/L) levels effectively, the patient underwent plasmapheres is once every 2 weeks using a dextran sulfate-cellulose column. Repeat ed plasmapheresis markedly reduced serum TC and TG and induced complet e regression of the palmar xanthoma after 6 months. The severity of tu berous xanthomas on the knees and elbows was reduced after 2.5 years. After plasmapheresis. TC decreased to 1.94 mmol/L from 10.40 mmol/L an d TG decreased to 0.33 mmol/L from 7.90 mmol/L. Plasmapheresis perform ed with a dextran sulfate-cellulose column was highly effective in rem oving the lipoprotein-remnant particles in this patient, leading to ge neralized improvement in the lipoprotein profile. Copyright (C) 1995 b y W.B. Saunders Company