Hyperlipidemia type V

Abstract

Hyperlipidemia - primary impaired blood lipid composition, which are based on genetically determined defects in lipid metabolism. At present, in view of improvement of diagnostics recorded an increase in patients with hyperlipidaemia, including increasingly began to meet with primary. The article discusses the pathogenesis, clinical picture of hyperlipidemia type V according to the classification of Fredrickson D. S. Hyperlipoproteinemia type V is a rare disorder of fat metabolism which has features of IV and I types of hyperlipidemia, the presence of which can be assumed in a patient with elevated levels of very low density lipoproteins and chylomicrons. In the pathogenesis of hyperlipoproteinemia type V is the deficiency of lipoprotein lipase, apolipoprotein C. As candidate genes in the formation of the family of the late start hyperchylomicronemia consider the Q139X mutation of apolipoprotein A5. Apolipoprotein A5 is involved in the regulation of lipolysis indirectly through changes in the activity of lipoprotein lipase. In some cases there is a correlation of hyperlipidemia with the influence of factors internal or external environment, which sometimes play the role of «trigger» mechanism. The clinical picture of hyperlipidemia type V note repeated attacks of pancreatitis, hepatomegaly, splenomegaly, eruptive xanthomas, lipid infiltration of blood vessels of the retina, frequent hyperuricemia, disturbance of tolerance to carbohydrates and diabetes. In families with hyperlipidemia type V the risk of atherosclerosis, as a rule, not increased. The article describes the development hyperhemispherical syndrome in a patient of young age with familial hyperlipidemia.