Patients' Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment
Patients' Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment
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DOI：
10.1007/s12529-014-9402-x
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发表时间：
2015-02-01
影响因子：
2.7
通讯作者：
Hagger, Martin S.
中科院分区：
文献类型：
--
作者：
Hardcastle, Sarah J.;Legge, Ellen;Hagger, Martin S.
家族性高胆固醇血症（FH）是一种严重的遗传性疾病，每300至500人中约有1人患病，其特征是低密度脂蛋白（LDL）胆固醇水平过高，早发性冠心病（CHD）和过早死亡的风险大幅增加。如果FH未经治疗，它会导致50岁男性CHD风险超过50%，60岁女性CHD风险至少为30%。家族性高胆固醇血症（FH）是一种遗传性健康状况，可增加心血管疾病的风险。虽然通过适当的药物和饮食干预可以有效地控制FH，但通过遗传筛查的FH检出率仍然很低。本研究探讨了参与遗传级联筛查计划的FH患者（N = 18）的感知和经验。进行了面对面访谈，以评估患者对FH的知识和理解，探索与坚持健康保护行为相关的因素，并检查遗传筛查的感知。访谈的主题分析揭示了四个主题：疾病知识、FH的严重程度、生活方式行为改变以及级联筛查和治疗的障碍。参与者认为FH是一种永久性的遗传性疾病，会增加他们患CHD和过早死亡的风险。许多参与者忽视了FH的严重性和生活方式改变的重要性，因为他们认为通过药物治疗可以有效地控制FH。尽管对筛查持积极态度，许多参与者报告说，亲属不愿意参加筛查，由于他们的亲属'宿命论'的前景或低动机。参与者认为，他们没有足够的权力或控制力来说服家人参加筛查，并欢迎医院提供更多帮助以与亲属联系。调查结果支持采用直接招募方法，由被认为拥有更大权力的医疗专业人员领导进行级联筛查。其他影响包括临床医生需要提供明确的信息，特别是对那些无症状的人，与FH的严重性和坚持用药和生活方式改变的必要性有关。
Familial hypercholesterolemia (FH) is a serious genetic disorder affecting approximately 1 in every 300 to 500 individuals and is characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality. If FH is untreated, it leads to a greater than 50 % risk of CHD in men by the age of 50 and at least 30 % in women by the age of 60. FH can be diagnosed through genetic screening and effectively managed through pharmacological treatment and lifestyle changes.Familial hypercholesterolemia (FH) is a genetic health condition that increases the risk of cardiovascular disease. Although FH can be effectively managed with appropriate pharmacological and dietary interventions, FH detection rate through genetic screening remains low. The present study explored perceptions and experiences of FH patients (N = 18) involved in a genetic cascade screening programme.Face-to-face interviews were conducted to assess patients' knowledge and understanding of FH, explore factors linked to adherence to health-protective behaviours and examine perceptions of genetic screening.Thematic analysis of interviews revealed four themes: disease knowledge, severity of FH, lifestyle behavioural change and barriers to cascade screening and treatment. Participants recognised FH as a permanent, genetic condition that increased their risk of CHD and premature mortality. Many participants dismissed the seriousness of FH and the importance of lifestyle changes because they perceived it to be effectively managed through medication. Despite positive attitudes toward screening, many participants reported that relatives were reluctant to attend screening due to their relatives' 'fatalistic' outlook or low motivation. Participants believed that they had insufficient authority or control to persuade family members to attend screening and welcomed greater hospital assistance for contact with relatives.Findings support the adoption of direct methods of recruitment to cascade screening led by medical professionals, who were perceived as having greater authority. Other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes.