Detecting familial hypercholesterolaemia in general practice.

Abstract

Familial hypercholesterolaemia (FH) is a relatively common inherited cause of premature coronary artery disease. However, a significant number of people remain undiagnosed in the community. Several clinical guidelines on FH have been published recently, including an Australian model of care, but these need to be placed in context for general practitioners. In this article we review approaches to screening for FH in the general practice setting.Â

BACKGROUND:

OBJECTIVE:

We review four possible approaches to screening for FH in the general practice setting: two opportunistic and two systematic. Evidence for these screening approaches is drawn from the current literature on FH.

DISCUSSION:

General practitioners are well placed to institute screening for FH in the general practice setting. Screening approaches could include opportunistic screening for family history, opportunistic screening of lipids, systematic searching of general practice electronic records, and universal screening of children. The role of specialist lipid clinics is important in the GP management of patients with FH.