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Familial Hypercholesterolaemia in Portugal: A Need for More Diagnostic Screening

Journal: Journal of Blood Disorders (Vol.1, No. 1)

Publication Date:

Authors : ;

Page : 1-3

Keywords : Familial hypercholesterolaemia; Lipoprotein metabolism; Coronary artery disease; LDLR; APOB; PSCK9;

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Familial Hypercholesterolaemia (FH) (MIM 144010) is an autosomal dominant disorder of lipoprotein metabolism, which is characterized by the increased level of circulating Low Density Lipoprotein (LDL) cholesterol that leads to lipid accumulations in arteries, and sometimes in tendons (xanthomas) and around the eyes (xanthelasmas), resulting in premature atherosclerosis and increased risk of Coronary Heart Disease

Last modified: 2016-10-03 20:53:02