医学
家族性高胆固醇血症
重症监护医学
冠状动脉疾病
基因检测
医疗保健
危险分层
临床实习
家庭医学
内科学
胆固醇
经济
经济增长
作者
Gerald F. Watts,Samuel S. Gidding,Robert A. Hegele,Frederick J. Raal,Amy C. Sturm,Laney K. Jones,Mitchell Sarkies,Khalid Al‐Rasadi,Dirk Blom,Magdalena Daccord,Sarah D. de Ferranti,Emanuela Folco,Peter Libby,Pedro Mata,Hapizah Nawawi,Uma Ramaswami,Kausik K. Ray,Claudia Stefanutti,Shizuya Yamashita,Jing Pang,Gilbert R. Thompson,Raúl D. Santos
标识
DOI:10.1038/s41569-023-00892-0
摘要
This contemporary, international, evidence-informed guidance aims to achieve the greatest good for the greatest number of people with familial hypercholesterolaemia (FH) across different countries. FH, a family of monogenic defects in the hepatic LDL clearance pathway, is a preventable cause of premature coronary artery disease and death. Worldwide, 35 million people have FH, but most remain undiagnosed or undertreated. Current FH care is guided by a useful and diverse group of evidence-based guidelines, with some primarily directed at cholesterol management and some that are country-specific. However, none of these guidelines provides a comprehensive overview of FH care that includes both the lifelong components of clinical practice and strategies for implementation. Therefore, a group of international experts systematically developed this guidance to compile clinical strategies from existing evidence-based guidelines for the detection (screening, diagnosis, genetic testing and counselling) and management (risk stratification, treatment of adults or children with heterozygous or homozygous FH, therapy during pregnancy and use of apheresis) of patients with FH, update evidence-informed clinical recommendations, and develop and integrate consensus-based implementation strategies at the patient, provider and health-care system levels, with the aim of maximizing the potential benefit for at-risk patients and their families worldwide. Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
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