[Familial combined hyperlipidemia with particularly severe and premature arteriosclerotic lesions. Description of a case]

Abstract

The case is reported of a 44 year old male patient admitted to our Department for left pyramidal hemisyndrome. Familial anamnesis was positive for premature cardiovascular complications and the patient, who was a heavy smoker, had suffered from arterial hypertension and claudicatio intermittens for 10 years. Laboratory investigations showed increased plasma levels of triglycerides, cholesterol and apolipoprotein B, with a sharp decrease in apo A/apo B ratio. Ultrasound and angiographic scans showed severe and diffuse atherosclerotic lesions. A diagnosis was made of familial combined hyperlipidemia and treatment was begun with simvastatin, which produced a progressive normalization of lipidic picture, without any effect of the symptoms related to lower limb occlusive arteriopathy. Two apparently healthy sisters of the patient have also been studied. The first was found to be affected by familial combined hyperlipidemia with isolated increase in cholesterol plasma levels, the second was perfectly normal. This case demonstrates that subjects with similar alterations in lipidic metabolism may present with completely different clinical pictures, even within the same inherited disorder. Different hypotheses are discussed to explain the particularly severe and precocious atherosclerotic lesions of our patient: sex, smoking habit and arterial hypertension, which would have been caused, at least in part, by the observed congenital malformation of renal circulation.