Familial hypercholesterolemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected, and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment, and management of FH in adults and children and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of noncholesterol risk factors, and the safe and effective use of low-density lipoprotein-lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be used to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.

Adults, Assessment, Children, Diagnosis, Familial hypercholesterolemia, International guidance, Models of care, Screening, Treatment
dx.doi.org/10.1016/j.jacl.2014.01.002, hdl.handle.net/1765/60940
Journal of Clinical Lipidology
Department of Internal Medicine

Watts, G.F, Gidding, S, Wierzbicki, A.S, Toth, P.P, Alonso, R.C, Brown, W.V, … Kastelein, J.J.P. (2014). Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. Journal of Clinical Lipidology (Vol. 8, pp. 148–172). doi:10.1016/j.jacl.2014.01.002