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Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country

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Familial hypercholesterolemia (FH; OMIM #143890) is characterized by a clinical triad of primary hyper-LDL-cholesterolemia, tendon xanthomas, and premature atherosclerotic cardiovascular disease (ASCVD). Recently, researchers around the world, including ourselves, have… Click to show full abstract

Familial hypercholesterolemia (FH; OMIM #143890) is characterized by a clinical triad of primary hyper-LDL-cholesterolemia, tendon xanthomas, and premature atherosclerotic cardiovascular disease (ASCVD). Recently, researchers around the world, including ourselves, have shown that the prevalence of patients with FH among the general population is estimated to be around 1 in 250–300 . The prevalence of FH among patients under specific situations is estimated to be much higher, such as 1 in 31 among patients with ischemic heart disease, 1 in 15 among patients with premature ischemic heart disease, and 1 in 14 among patients with severe hypercholesterolemia. Accordingly, it is roughly estimated that there are approximately 500,000 patients with FH in Japan and 5,800,000 patients with FH in China. Currently, the awareness for FH in both countries, which contain some of the most populous areas in the world, is not adequate.

Keywords: familial hypercholesterolemia; world; hypercholesterolemia; among patients; panel sequencing; targeted panel

Journal Title: Journal of Atherosclerosis and Thrombosis
Year Published: 2020

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