[家族性高胆固醇血症的家族史——遗传学的作用]

[A Family History of Hypercholesterolemia - the Role of Genetics].

作者信息

Podmore Clara, Deillon Eva, Nanchen David

机构信息

Consultation de prévention cardiovasculaire, cholestérol et style de vie, Département promotion de la santé et préventions, Centre universitaire de médecine générale et santé publique, Unisanté, Université de Lausanne, Lausanne, Suisse.

出版信息

Praxis (Bern 1994). 2023;112(4):245-249. doi: 10.1024/1661-8157/a004013.

DOI:10.1024/1661-8157/a004013

PMID:36919320

Abstract

A Family History of Hypercholesterolemia - the Role of Genetics Genetic testing is rarely used in Switzerland to confirm the clinical diagnosis of familial hypercholesterolemia. However, cascade genetic testing from an index case is recommended by the guidelines. By describing a patient and his family with severe hypercholesterolemia, we discuss the benefits, risks and barriers regarding the implementation of genetics for familial hypercholesterolemia. Family screening with genetic testing could become a standard of care for severe hypercholesterolemia.

摘要

高胆固醇血症的家族史——遗传学的作用在瑞士，基因检测很少用于确诊家族性高胆固醇血症的临床诊断。然而，指南推荐从索引病例进行级联基因检测。通过描述一名患有严重高胆固醇血症的患者及其家族，我们讨论了在家族性高胆固醇血症中实施遗传学检测的益处、风险和障碍。采用基因检测进行家族筛查可能会成为严重高胆固醇血症的一种护理标准。