Genetic haemochromatosis: A qualitative exploration of patients' experience of diagnosis in primary care

Abstract

Genetic haemochromatosis (GH) is the most common inherited genetic disorder in Caucasians (Bacon et al. 2011), and commonly affects Northern Europeans, especially those with Celtic or Nordic descent, with a ratio of approximately 1:220 - 250 people (Fitzsimmons et al. 2018; Phatak et al., 2008;). Despite the prevalence of GH only 1:5000 people are diagnosed with it (Haemochromatosis UK [HUK] 2019; British Liver Trust [BLT] 2017). In GH the body absorbs excess iron which can lead to systematic iron overload within the liver and other internal organs such as the pancreas, heart and joints; eventually causing inflammation and tissue damage. Early symptoms are non specific such as fatigue, abdominal and joint pain and as such, may be considered inconsequential by GP’s, resulting in a delay in diagnosis and treatment. To date there has been little research examining patient’s thoughts and experiences of being diagnosed with GH, a disorder which requires life long treatment with venesection, and which may lead to cirrhosis of the liver and increased risk of hepatocellular carcinoma (Ulvik 2015). Data was collected using semi-structured interviews with a sample of 22 patients with haemochromatosis who responded to a poster advertising the study. The interview covered their experience of diagnosis and treatment and the effect it was having on their lives. Patients had been diagnosed between a year and more than 30 years The interviews were recorded and transcribed verbatim. Analysis of the data was conducted using thematic analyis. Many of the patients felt that GPs lacked knowledge of genetic haemochromatosis and talked about how GPs were unable to give them any detailed information about the disease Early detection and treatment for GH depends on increased knowledge of GPs. This qualitative study identified that patients perceive there to be gaps in understanding GH diagnosis and treatment. Ensuring GPs are aware of GH and the strategies for diagnosis could result in improved patient care. These findings indicate that improved education for GPs regarding GH may be beneficial in order to improve patient care for this condition and potentially reduce delays in diagnosis.