Genetic Forms of Dyslipidaemia

While monogenic diseases are typically considered rare, elevated lipoprotein levels due to single sequence variants are fairly common, with, for example, the prevalence of familial hypercholesterolaemia being as high as 1 in 250 in the general population. Identification of such monogenic disorders and formal genetic diagnosis is imperative to tailor treatment and to pre-empt complications in family members carrying pathogenic mutations. Dyslipidaemias may be ‘primary’ and genetic, in which severe dyslipidaemia is the inevitable result of an underlying genetic mutation, and these will be the main focus of this chapter. This chapter also aims to provide an accessible account of known monogenic disorders causing hyperlipidaemia, with a focus on diagnosis and treatment.