Familial hypercholesterolaemia

Abstract

Familial hypercholesterolaemia (FH) is a monogenic hereditary disease with an estimated prevalence of 1:220-1:250 in Denmark; the majority have not yet been diagnosed. Untreated FH is associated with a considerably increased risk of premature cardiovascular disease. Early treatment significantly reduces risk, stressing the importance of early diagnosis and treatment initiation. General practicians have a key role in screening and referring patients. Diagnosis, cascade screening, and treatment of FH are handled by Lipids Clinics. For FH, this review finds that initiation of treatment is recommended from age 7-10.