Arterioscler Thromb Vasc Biol 2021 10 19;41(10):2616-2628. Epub 2021 Aug 19.
deCODE genetics/Amgen, Inc, Reykjavík, Iceland (E.B., G. Thorgeirsson, A.H., G. Thorleifsson, G.S., S.K., H.J., Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, A.S., S.G., V.S., B.V.H., D.O.A., I.J., D.F.G., H.H., U.T., P.S., K.S.).
Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein cholesterol) levels. In practice, FH is commonly a clinical diagnosis without confirmation of a causative mutation. In this study, we sought to characterize and compare monogenic and clinically defined FH in a large sample of Icelanders. Read More