Quality of life in hereditary haemochromatosis: Scoping review of symptoms and initial ranking of symptoms by a special interest group

Haemochromatosis is the most common genetic condition among people of European descent, resulting in iron overload and multi-organ dysfunction. Despite early detection and treatment advances, affected individuals experience significant morbidity impacting their quality of life (QoL). To scope the literature for QoL issues and rank them in order of relevance by professional bodies. A literature search was conducted using PubMed, EMBASE, and MEDLINE in addition to a grey literature search against the eligibility criteria up to July 2023. Inclusion criteria included original articles with data concerning symptoms and QoL in patients with haemochromatosis. Nineteen issues were identified from 47 articles and scored by a haemochromatosis special interest group using a scale of 1 to 10 (10 = highest importance). Mean scores were then calculated for each issue. Fatigue, joint pain and sexual issues were key factors associated with impaired QoL. The least relevant were weight changes and abdominal pain. Other issues raised were anxiety, the development of diabetes, and concerns about genetics and family. This is the first scoping review examining common symptoms affecting QoL of patients with hereditary haemochromatosis. Further studies, including patient interviews and a randomised controlled trial, will inform a validated QoL questionnaire.