Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management

Frontiers in Public Health

Giuseppe Migliara¹ 

关键词: familial hypercholesterolemia;    systematic review;    guidelines;    genetic testing;    cascade screening;   

DOI  :  10.3389/fpubh.2017.00252

学科分类：卫生学

来源: Frontiers

【 摘 要 】

BackgroundFamilial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways.

【 授权许可】

CC BY