The role of nutrition and environmental factors in management of familial hypercholesterolemia

Heterozygous Familial Hypercholesterolemia (HeFH) is a common autosomal dominant hereditary disorder of lipoprotein metabolism characterised by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C), and high risk of premature atherosclerotic cardiovascular disease (ASCVD).1 Recent evidence suggests that the prevalence of HeFH is as high as 1 in 200-250 in the general population, and is often both underdiagnosed and undertreated by health care providers.2, 3 There is heterogeneity in phenotypical expression and development of ASCVD among FH patients with substantial individual variation. It appears that significant elevation of plasma LDL-C is not always be seen in every HeFH patient nor is LDL-C level closely correlated with manifestation of ASCVD.