Identification of people with heterozygous familial hypercholesterolemia

Purpose of review Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide. This review will discuss, from a clinician's perspective, some of the issues involved in identifying people with familial hypercholesterolemia. Recent findings Several sets of recommendations have been published outlining the strategies for identification of people with familial hypercholesterolemia in various countries and regions. These include Australasia, Europe, and the USA. Summary Continuing efforts to find the best methods for identification of people with familial hypercholesterolemia are needed to ensure that this very treatable inherited condition is diagnosed early enough to prevent the development of atherosclerotic vascular disease.