Future Issues, Public Policy, and Public Awareness of Familial Hypercholesterolemia

Abstract

In May 2011 the National Lipid Association (NLA) issued new recommendations for the treatment of familial hypercholesterolemia (FH). This Journal of Clinical Lipidology open-source eCME activity (accessed at http://multimedia.lipidjournal.com/2011/HDL) reviews public awareness, medical diagnosis, and current evidence-based treatment for FH. FH is caused by genetic mutations that affect the function of low-density lipoprotein (LDL) cholesterol receptors. Elevated serum LDL cholesterol is the lipid most associated with increased risk of atherosclerotic cardiovascular disease (CVD). Because of the genetic mutations, the distinguishing characteristic of patients with FH is extraordinarily high levels of serum LDL cholesterol, typically 350−550 mg/dL in patients with heterozygous FH (inheritance of only 1 defective gene from one parent), but levels of 650−1000 mg/dL (or greater) in persons with homozygous FH (inheritance of 2 defective genes, ie, from both parents). The incidence of heterozygous FH is approximately 1 in every 500 people; for homozygous FH, the incidence is approximately 1 in 1 million (therefore, this is not a very “rare” disease for physicians, especially as the increased risk in these patients means they are very likely to present in the clinic sooner or later). The principal concern of the new NLA recommendations is to offer guidance and promote awareness for physicians to recognize and know how to treat FH; the screening recommendations are especially important for physicians to understand and follow because if properly recognized and treated, the risk of CVD in patients with FH can be aligned with the CVD risk in the general population. Goldberg AC. J Clin Lipidol. 2011; 5(6). Accessible at http://www.lipidjournal.com.