Haemochromatosis patients' research priorities: Towards an improved quality of life

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. PATIENT OR PUBLIC CONTRIBUTION: 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.