Department of Basic Sciences, Iron metabolism: Regulation and Diseases, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Barcelona, Spain.
Group of Evaluation of Health Determinants and Health Policies, Department of Basic Sciences, Universitat Internacional de Catalunya, Sant Cugat del Vallès, Spain.
Health Expect. 2023 Dec;26(6):2293-2301. doi: 10.1111/hex.13830. Epub 2023 Jul 28.
Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chronic iron overload that can ultimately lead to multiple organ dysfunction. Clinical diagnosis remains challenging due to the nonspecificity of symptoms and a lack of confirmatory genotyping in a substantial proportion of patients. Illness perception among HC patients has not been extensively investigated, lacking relevant information on how to improve their QoL.
We present the results of the first worldwide survey conducted in nearly 1500 HC respondents, in which we collected essential demographic information and identified the aspects that concern HC patients the most.
Out of all the participants, 45.3% (n = 676) voiced their concern about physical and psychological consequences such as HC-related arthropathies, which can ultimately affect their social functioning. A similar proportion of patients (n = 635, 42.5%) also consider that better-informed doctors are key for improved HC disease management. Taking a patient-centred approach, we expose differences in patients' disease perspective by social and economic influences.
We identify potential targets to improve patients' health-related QoL and reflect on strategic measures to foster gender equity in access to health resources. Finally, we make a call for a highly coordinated effort across a range of public policy areas to empower participants in the HC research process and design.
Nearly 1500 patients with hereditary HC responded to an anonymized online survey in which research and clinical priorities were addressed regarding this chronic and rare disease.
慢性病与一系列功能和心理社会后果相关，这些后果可能会对患者的生活质量（QoL）产生不利影响。血色病（HC）是一种遗传性异质性疾病，其特征为慢性铁过载，最终可导致多器官功能障碍。由于症状缺乏特异性且相当一部分患者缺乏确认性基因分型，临床诊断仍然具有挑战性。HC 患者的疾病认知尚未得到广泛研究，缺乏有关如何改善其生活质量的相关信息。
我们介绍了首次在近 1500 名 HC 应答者中进行的全球调查结果，在该调查中，我们收集了重要的人口统计学信息，并确定了最令 HC 患者关注的方面。
在所有参与者中，45.3%（n=676）表示担心 HC 相关的关节病等身体和心理后果，这些后果最终可能会影响他们的社交功能。同样比例的患者（n=635，42.5%）也认为，更好地了解疾病的医生是改善 HC 疾病管理的关键。我们采取以患者为中心的方法，根据社会和经济影响，揭示患者对疾病的不同看法。
我们确定了改善患者健康相关生活质量的潜在目标，并思考了促进卫生资源获取方面性别平等的战略措施。最后，我们呼吁在一系列公共政策领域进行高度协调的努力，赋予 HC 研究过程和设计的参与者权力。
近 1500 名遗传性 HC 患者对一项匿名在线调查做出了回应，该调查涉及针对这种慢性和罕见疾病的研究和临床重点。
