Jones Laney K, Walters Nicole, Brangan Andrew, Ahmed Catherine D, Wilemon Katherine A, Campbell-Salome Gemme, Rahm Alanna K, Gidding Samuel S, Sturm Amy C
Genomic Medicine Institute, Geisinger, Danville, PA, United States of America.
Heart and Vascular Institute, Geisinger, Danville, PA, United States of America.
Am J Prev Cardiol. 2022 Apr 18;10:100344. doi: 10.1016/j.ajpc.2022.100344. eCollection 2022 Jun.
To explore alignment of perspectives from individuals and families with familial hypercholesterolemia (FH) to the FH Global Call to Action recommendations.
Interviews and focus groups were conducted with individuals and families with FH from multiple U.S. health systems and the Family Heart Foundation community to capture lived experiences and to identify barriers to diagnosis, cascade testing, and treatment. Participant perspectives were examined and classified, according to their alignment to recommendations of the FH Global Call to Action.
A total of 75 lived experiences were analyzed. Participants were majority female, mostly white, older, and well-educated. Participants most frequently mentioned recommendations were family-based care (84%) and screening, testing, & diagnosis (84%), followed by treatment (69%), advocacy (60%), cost & value (59%), awareness (56%), research & registries (43%), and severe & homozygous FH (11%). An average of 4.65 (SD 1.76) recommendations were mentioned.
The FH Global Call to Action was driven by the persistent unmet needs of those living with FH in receiving a timely diagnosis, appropriate care, and support to prevent early morbidity and mortality. Patient- and family-centric perspectives suggest the FH Global Call to Action captures these concerns. Acting on recommendations, particularly improvements in screening and family-based care, will address patient, and public health, concerns.
探讨家族性高胆固醇血症（FH）患者及其家庭的观点与《FH全球行动呼吁》建议的一致性。
对来自多个美国医疗系统以及家庭心脏基金会社区的FH患者及其家庭进行访谈和焦点小组讨论，以了解他们的实际生活经历，并确定诊断、级联检测和治疗的障碍。根据参与者的观点与《FH全球行动呼吁》建议的一致性进行检查和分类。
共分析了75个实际生活经历。参与者以女性为主，大多为白人，年龄较大且受教育程度较高。参与者最常提到的建议是家庭式护理（84%）和筛查、检测与诊断（84%），其次是治疗（69%）、宣传（60%）、成本与价值（59%）、认知（56%）、研究与登记（43%）以及重度和纯合子FH（11%）。平均提到4.65条（标准差1.76）建议。
《FH全球行动呼吁》是由FH患者在及时获得诊断、适当护理和支持以预防早期发病和死亡方面持续未得到满足的需求所推动的。以患者和家庭为中心的观点表明，《FH全球行动呼吁》抓住了这些问题。按照建议采取行动，特别是改善筛查和家庭式护理，将解决患者和公共卫生方面的问题。
