Author: Otto, Catherine M.
Title: Heartbeat: improved diagnosis of familial hypercholesterolaemia Cord-id: j414g2lo Document date: 2021_1_1
ID: j414g2lo
Snippet: Correspondence to Professor Catherine M Otto, Division of Cardiology, University of Washington, Seattle, WA 98195, USA;[email protected] Familial hypercholesterolaemia (FH) is the most common autosomal dominant genetic condition, affecting about 1 in 250 people, caused by a pathogenic variant in one of several genes involved in lipoprotein cholesterol catabolism. The FAMCAT score is based on systematic screening of routine primary care records for cholesterol measurements, age, triglycerides, family
Document: Correspondence to Professor Catherine M Otto, Division of Cardiology, University of Washington, Seattle, WA 98195, USA;[email protected] Familial hypercholesterolaemia (FH) is the most common autosomal dominant genetic condition, affecting about 1 in 250 people, caused by a pathogenic variant in one of several genes involved in lipoprotein cholesterol catabolism. The FAMCAT score is based on systematic screening of routine primary care records for cholesterol measurements, age, triglycerides, family history, diabetes, kidney disease and current use of lipid-lowering drugs (figure 1). CVD, cardiovascular disease;DLCN, Dutch Lipid Clinic Network;FAMCAT, FH Case Ascertainment Tool;FH, familial hypercholesterolaemia;GP, general practitioner;HCA, healthcare assistant;LLT, lipid-lowering treatment;VUS, variant of unknown significance.
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