A case of familial hypercholesterolemia

Abstract

We report a case of a 50-year-old woman with familial hypercholesterolemia (FH). Patients with FH have an increased incidence of atherosclerotic cardiovascular disease (CVD). Lifestyle measures, including fat-modified diets, and pharmacotherapy, particularly with statins, can substantially decrease the risk of CVD. FH fulfils all the WHO criteria for disease screening: to avoid cardiovascular events, screening is one of the most important features, but regrettably this is not practiced regularly at present. Healthcare systems must implement well-organized screening strategies, supported by an efficient disease management program. These initiatives will require optimization of primary care, because general practitioners are in first line in the overall prevention of CVD.