Familial hypercholesterolemia

IF 1.4 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS Indian heart journal Pub Date : 2024-03-01 DOI:10.1016/j.ihj.2023.12.002

J.P.S. Sawhney, Kushal Madan

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Abstract

Familial hypercholesterolemia is a common genetic disorder of autosomal inheritance associated with elevated LDL-cholesterol. It is estimated to affect 1:250 individuals in general population roughly estimated to be 5 million in India. The prevalence of FH is higher in young CAD patients (<55 years in men; <60 years in women). FH is underdiagnosed and undertreated. Screening during childhood and Cascade screening of family members of known FH patients is of utmost importance in order to prevent the burden of CAD. Early identification of FH patients and early initiation of the lifelong lipid lowering therapy is the most effective strategy for managing FH. FH management includes pharmaceutical agents (statins and non statin drugs) and lifestyle modification. Inspite of maximum dose of statin with or without Ezetimibe, if target levels of LDL-C are not achieved, Bempedoic acid, proprotein convertase subtilisin/kexin type 9 (PCSK9) Inhibitors/Inclisiran can be added.

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家族性高胆固醇血症

家族性高胆固醇血症是一种常见的常染色体遗传疾病，与低密度脂蛋白胆固醇升高有关。据估计，在印度，该病的发病率约为总人口的 1:250，约 500 万人。FH在年轻的CAD患者（男性55岁；女性60岁）中发病率较高。FH诊断不足，治疗不力。在儿童时期进行筛查，并对已知 FH 患者的家庭成员进行级联筛查，对于防止加重 CAD 负担至关重要。早期发现 FH 患者并尽早开始终身降脂治疗是控制 FH 的最有效策略。FH 的治疗包括药物（他汀类和非他汀类药物）和生活方式的改变。尽管服用了最大剂量的他汀类药物（无论是否服用依折麦布），如果低密度脂蛋白胆固醇（LDL-C）仍未达到目标水平，可加用本贝多酸、9 型丙蛋白转换酶枯草酶/kexin（PCSK9）抑制剂/英克利西兰（Inclisiran）。

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来源期刊

Indian heart journal CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

2.60

自引率

6.70%

发文量

审稿时长

52 days

期刊介绍： Indian Heart Journal (IHJ) is the official peer-reviewed open access journal of Cardiological Society of India and accepts articles for publication from across the globe. The journal aims to promote high quality research and serve as a platform for dissemination of scientific information in cardiology with particular focus on South Asia. The journal aims to publish cutting edge research in the field of clinical as well as non-clinical cardiology - including cardiovascular medicine and surgery. Some of the topics covered are Heart Failure, Coronary Artery Disease, Hypertension, Interventional Cardiology, Cardiac Surgery, Valvular Heart Disease, Pulmonary Hypertension and Infective Endocarditis. IHJ open access invites original research articles, research briefs, perspective, case reports, case vignette, cardiovascular images, cardiovascular graphics, research letters, correspondence, reader forum, and interesting photographs, for publication. IHJ open access also publishes theme-based special issues and abstracts of papers presented at the annual conference of the Cardiological Society of India.