Familial hypercholesterolaemia: Walking time bombs and digging for gold

Abstract

Most GPs will have in their practice patients with heterozygous FH, whether recognised or not. Most adults with FH are diagnosed sporadically. FH in children remains largely undiagnosed and untreated. Coronary atherosclerosis in adult patients with FH can be controlled with effective LDL-C lowering, but this requires maximum doses of potent statins in combination with ezetimibe, and often resins and nicotinic acid as well. Referral of patients with FH to a lipid clinic with experience in this area is the preferred option for family screening, a key component of FH management. Ongoing management of patients with FH should be undertaken jointly by GPs and the lipid clinic. There is a need for improved health professional and community awareness of FH as a serious and relatively common genetic disorder for which effective treatments are available.