Abstract

CORRAL¹, Pablo. Heterozygous familial hypercholesterolemia: Review strategies for identification and screening. Insuf. card. [online]. 2015, vol.10, n.3, pp.126-131. ISSN 1852-3862.

Heterozygous familial hypercholesterolemia (HeFH) is a common autosomal dominant genetic disease, which causes premature coronary heart disease. If HeFH detected and treated early, those affected individuals have a life expectation equivalent to unaffected individuals. Different strategies exist to make a correct identification of cases with HeFH; phenotypic criteria, based on elevated levels of low density lipoprotein cholesterol (LDL-C), clinical stigmata (corneal arcus, xanthomas), together with a family history of elevated LDL-C and early cardiovascular events are conventionally used in daily practice. On the other hand there is the possibility of genetic diagnosis of HeFH and this is complemented with aspects and phenotypic criteria. Once identified HeFH case, the challenge is to implement a strategy of family screening, since the characteristics mentioned heritability of the disease, there is a fifty percent chance that a direct family member has the disease. The primary objective of this review is to present and discuss different strategies for the identification and detection of patients with HeFH.

Keywords : Heterozygous familial hypercholesterolemia;; Coronary heart disease; LDL-cholesterol; Family screening;; Corneal arcus; Xanthomas.