Familial hypercholesterolemia (FH) is the most common inherited form of high cholesterol that significantly increases the risk for coronary artery disease. Early detection and treatment can decrease morbidity and mortality and provide important risk information to family members. However, FH remains vastly underdiagnosed and undertreated. Cascade screening is the process of iteratively testing first‐degree relatives for a genetic disease. It has been shown to effectively identify individuals with undiagnosed FH. The majority of research on methods for cascade screening has been conducted outside of the United States (U.S.). For indirect contact, index cases encourage relatives to undergo testing, and for direct contact, healthcare providers (HCP) obtain the index case's consent to contact relatives and offer information. Currently, there is not an accepted strategy for cascade screening programs in the U.S. This study investigated perspectives on direct and indirect contact for cascade screening from individuals with FH. An online survey was designed in collaboration with the Familial Hypercholesterolemia Foundation (FHF). Fifty‐eight percent of U.S. index cases (11/19, 57.9%) and all international index cases (8/8, 100%) indicated willingness to provide contact information for certain at‐risk relatives to a HCP for the purpose of directly informing relatives of their risk for FH in a hypothetical scenario. These findings provide an example of U.S. data and additional international data suggesting that some individuals with FH may consider direct contact a reasonable approach to improve screening uptake among family members. These initial findings need further confirmation in a larger group.

中文翻译：

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家族性高胆固醇血症患者在级联筛查中直接接触的观点

家族性高胆固醇血症（FH）是高胆固醇的最常见遗传形式，可显着增加罹患冠心病的风险。早期发现和治疗可以降低发病率和死亡率，并为家庭成员提供重要的风险信息。但是，FH仍被严重误诊和治疗不足。级联筛选是对一级亲属进行遗传疾病迭代测试的过程。已经显示出它可以有效地识别出未经诊断的FH患者。有关级联筛选方法的大多数研究已在美国（美国）以外进行。对于间接接触，索引病例鼓励亲戚进行测试，对于直接接触，医疗保健提供者（HCP）获得索引病例的同意以联系亲属并提供信息。目前，在美国，尚无公认的级联筛查策略。该研究调查了FH患者进行级联筛查的直接和间接接触的观点。与家族性高胆固醇血症基金会（FHF）合作设计了一项在线调查。58％的美国指数病例（11/19，57.9％）和所有国际指数病例（8/8，100％）表示愿意为HCP的某些高危亲属提供联系信息，以便直接告知假想情景中其亲属患FH的风险。这些发现提供了美国数据和其他国际数据的示例，表明某些患有FH的人可能会认为直接接触是提高家庭成员筛查摄取率的合理方法。