Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death, with significant potential impact on public health1 and meeting all criteria for screening for a condition. Early detection of FH rests on the premise that the burden of atherosclerotic cardiovascular disease due to genetically elevated low-density lipoprotein cholesterol begins at birth and accumulates over time, and that treatment in childhood prevents coronary events and reduces mortality.2 The public health importance of FH is also underpinned by knowledge that its prevalence is as high as 1:250.1 However, only 10% of people worldwide are currently recognised as having FH.2 A recent international global call to action3 has championed the need for improved screening and diagnosis. To identify >90% of the population with FH requires multiple approaches, but integrating cascade testing of family members of index cases with some form of universal screening at younger ages may have the highest potential. Opportunistic, selective, systematic and universal screening strategies, employing phenotypic and genetic testing, are other approaches that are reported as cost-effective.2 More recently, whole population genetic screening has been proposed. Genetic testing has several advantages: it improves precision of diagnosis and risk prediction, facilitates family counselling and cascade testing, and can improve adherence to therapy.4 General practice plays a key role in the detection of FH for several reasons, including ease of access to services, a preference for patients to receive treatment locally and awareness of intergenerational conditions in families. A key goal of the WHO is to focus on primary healthcare to facilitate easy and equitable access to quality health services.5 The study by Qureshi et al 6 offers a new approach to increase primary care involvement in diagnosing FH by offering FH genetic testing through general practitioners (GPs) for …

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家族性高胆固醇血症：一般实践及以后的基因检测

家族性高胆固醇血症 (FH) 是导致过早冠状动脉疾病和死亡的可预防原因，对公共健康具有重大潜在影响 1，并且符合所有疾病筛查标准。早期发现 FH 的前提是，由遗传性升高的低密度脂蛋白胆固醇引起的动脉粥样硬化性心血管疾病的负担在出生时就开始并随着时间的推移而积累，而儿童期的治疗可预防冠状动脉事件并降低死亡率。 2 FH 的患病率高达 1:250.1 的知识也为其提供了支持。然而，目前全世界只有 10% 的人被认为患有 FH。2 最近的国际全球行动呼吁 3 支持改进筛查和诊断的必要性。识别 > 90% 的 FH 人群需要多种方法，但将指示病例家庭成员的级联检测与某种形式的较年轻的普遍筛查相结合可能具有最大的潜力。使用表型和基因检测的机会主义、选择性、系统和通用筛查策略是其他据报道具有成本效益的方法。2 最近，有人提出了全人群基因筛查。基因检测有几个优点：它提高了诊断和风险预测的精确度，促进了家庭咨询和级联检测，并可以提高治疗的依从性。 4 全科在检测 FH 中起着关键作用，原因有几个，包括易于获得服务，患者倾向于在当地接受治疗，并了解家庭中的代际条件。世卫组织的一个主要目标是关注初级卫生保健，以促进轻松、公平地获得优质卫生服务。 5 Qureshi 等人 6 的研究提供了一种新方法，通过提供 FH 基因检测来增加初级卫生保健在诊断 FH 中的参与度。从业者 (GP) 为……