N Engl J Med 2020 08;383(8):711-720
From the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg (F.J.R.); the Cardiometabolics Unit, Zena and Michael A. Wiener Cardiovascular Institute, Marie-Josee and Henry R. Kravis Center for Cardiovascular Health, Icahn School of Medicine at Mount Sinai, New York (R.S.R.), and Regeneron Pharmaceuticals, Tarrytown (S.A., P.B, K.-C.C., D.A.G., N.K., R.P., D.M.W. G.D.Y., Y.Z.) - both in New York; the Department of Vascular Medicine, University of Amsterdam, Amsterdam (L.F.R., G.K.H., J.J.P.K.); the Department of Internal Medicine and Surgery, Federico II University, Naples, Italy (P.R.); and the Clinical Lipidology and Rare Lipid Disorders Unit, Department of Medicine, Université de Montréal Community Gene Medicine Center, Lipid Clinic Chicoutimi Hospital and ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, QC, Canada (D.G.).
Background: Homozygous familial hypercholesterolemia is characterized by premature cardiovascular disease caused by markedly elevated levels of low-density lipoprotein (LDL) cholesterol. This disorder is associated with genetic variants that result in virtually absent (null-null) or impaired (non-null) LDL-receptor activity. Loss-of-function variants in the gene encoding angiopoietin-like 3 () are associated with hypolipidemia and protection against atherosclerotic cardiovascular disease. Read More