Keenan Karen Forrest, Finnie Robert M, Simpson William G, McKee Lorna, Dean John, Miedzybrodzka Zosia
Epidemiology Group, University of Aberdeen, First Floor Health Sciences Building, Foresterhill, Aberdeen, AB25 2ZD, UK.
Medical Genetics Group, University of Aberdeen, Polwarth Building, Aberdeen, AB25 2ZD, UK.
J Community Genet. 2019 Jan;10(1):129-141. doi: 10.1007/s12687-018-0373-5. Epub 2018 Jun 14.
Familial hypercholesterolemia (FH) is a serious inherited disorder, which greatly increases individuals' risk of cardiovascular disease (CVD) in adult life. However, medical treatment and lifestyle adjustments can fully restore life expectancy. Whilst European guidance advises that where there is a known family mutation genetic testing is undertaken in early childhood, the majority of the at-risk population remain untested and undiagnosed. To date, only a small number of studies have explored parents' and children's experiences of testing and treatment for FH, and little is known about interactions between health professionals, parents, and children in clinic settings. In this study, in-depth interviews were undertaken with parents who had attended a genetics and/or lipid clinic for FH with their children (n = 17). A thematic analysis revealed four main themes: undertaking early prevention, postponing treatment, parental concerns, and the importance of the wider family context. The majority of parents supported genetic testing for FH in childhood. However, although some were very supportive of following early treatment recommendations, others expressed reluctance. Importantly, some parents were concerned that inappropriate information had been shared with their children and wished that more time had been given to discuss how, when, and what to tell in advance. Future research is needed to explore the long-term outcomes for children who undertake genetic testing and early treatment for FH and to trial interventions to improve the engagement, follow-up, and support of children who are at risk, or diagnosed, with this disorder.
家族性高胆固醇血症（FH）是一种严重的遗传性疾病，它会大大增加个体成年后患心血管疾病（CVD）的风险。然而，医学治疗和生活方式的调整可以完全恢复预期寿命。虽然欧洲指南建议，在已知存在家族突变的情况下，应在儿童早期进行基因检测，但大多数高危人群仍未接受检测和诊断。迄今为止，只有少数研究探讨了父母和孩子对FH检测和治疗的经历，对于临床环境中医疗专业人员、父母和孩子之间的互动了解甚少。在本研究中，对带孩子前往遗传学和/或脂质诊所就诊的FH患儿父母进行了深入访谈（n = 17）。主题分析揭示了四个主要主题：进行早期预防、推迟治疗、父母的担忧以及更广泛家庭背景的重要性。大多数父母支持在儿童期进行FH基因检测。然而，尽管一些父母非常支持遵循早期治疗建议，但另一些父母则表示不情愿。重要的是，一些父母担心不适当的信息已告知他们的孩子，并希望有更多时间来讨论如何、何时以及提前告知什么内容。需要进一步研究以探索接受FH基因检测和早期治疗的儿童的长期结局，并试验干预措施，以改善对有这种疾病风险或已被诊断患有这种疾病的儿童的参与度、随访和支持。
