"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-10 DOI:10.1007/s12687-024-00725-8
Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette
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Abstract

Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.

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"我不认为人们应该英年早逝":子女被诊断出患有家族性高胆固醇血症的父母的观点。
家族性高胆固醇血症(FH)是一种遗传性疾病,会大大增加患者过早罹患心血管疾病(CVD)的风险。改变生活方式和药物治疗的早期干预对于预防心血管疾病至关重要。先前的研究表明,儿童降脂治疗安全有效。尽管血脂过高是一种可治疗和可控制的疾病,但其诊断和治疗仍然不足。美国的一些医学专家建议在儿童中开展普遍血脂筛查(ULS),以此作为发现 FH 病例并最大限度地发挥早期发明疗效的一种策略。然而,儿科诊所并未常规提供血脂筛查。本研究旨在探讨美国父母对其子女进行 FH 诊断的经验,确定儿童诊断和护理的主要促进因素和障碍,并研究父母对儿童 ULS 的看法。通过家庭心脏基金会招募的参与者共进行了 14 次半结构式访谈。主题分析确定了三个关键主题:家族史在促进儿童 FH 诊断中的作用、诊断后护理中的障碍和挑战以及对儿童 ULS 的态度。所有与会者都支持对儿童进行超早期超声心动图检查,并强调了早期诊断和治疗先天性心脏病的价值。然而,许多与会者提出了儿童确诊后缺乏指导或转诊的问题。这突出表明,在不断努力提高 FH 儿童诊断率的同时,需要提供方便和全面的护理。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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