Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia

Abstract

Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated. In this review, emphasis is placed on the most recent advances in FCH, in order to increase its awareness and ultimately contribute to improving its clinical control.

Keywords: Dislipidemia; Dyslipidaemia; Familial combined hyperlipidaemia; Hipercolesterolemia; Hiperlipemia familiar combinada; Hipertrigliceridemia; Hypercholesterolaemia; Hypertriglyceridaemia.