A CASE-REPORT - FAMILIAL HYPOALPHALIPOPROTEINEMIA

We studied an 8 year-old girl whose height was 129 cm (25-50th percent ile), weight 30 kg (75th percentile), blood pressure 115/75 mm Hg (75t h percentile) and had a calcified mass lesion in the left posterior me diastinum. In the histopathological investigation of this mass lesion, symptoms of complicated atherosclerosis, such as mural thrombus and d iffused calcification, were observed. Lipid investigations were perfor med in this patient whose total cholesterol and triglyceride levels we re in the normal ranges. HDL-cholesterol, apoprotein A-I and alpha ban d were low without any other lipid and lipoprotein abnormalities. Duri ng one year, in her monthly lipid analysis the mean levels of HDL-chol esterol, apoprotein A-I and alpha band were found to be 0.73+/-0.11 mm ol/l, 90+/-20 mg/dl and 23+/-5% respectively. Studies of her family re vealed low levels of HDL-cholesterol, apoprotein A-I and alpha band in her mother and sister. We describe our investigation of this rare cas e of familial hypoalphalipoproteinemia.