About homozygous hyperlipidemias observed in Saint-Petersburg Lipid clinic

Abstract

The aim was to describe blood plasma lipids profiles and clinical manifestations of atherosclerosis in children with homozygous hyperlipidemias. We observed and followed four children with homozygous hyperlipidemia, measured blood plasma lipids in them and in their parents (when available), and described the clinical consequences of hyperlipidemia in the families of probands. Out of these four cases two were classified as classical autosomal dominant familial hypercholesterolemia. One case was an unique observation because high hypercholesterolemia was observed in a boy despite both parents had normal lipid data. We classified this case as an autosomal recessive hypercholesterolemia. In the paper we also describe a case of severe hypertriglyceridemia in a girl with healthy parents without elevation of blood plasma triglycerides. Genetic analysis was not performed; the diagnosis was established based on clinical parameters and anamnesis data. Nevertheless cases of homozygous hyperlipidemia are very rare, they contribute to a proportion of atherosclerosis cases in adolescents. These cases require special attention, because LDL-apheresis is the only one effective method for treatment of the homozygous.