P3 Genetic haemochromatosis: diagnosis and treatment experience

<h3>Background</h3> Genetic haemochromatosis (GH) is the most common genetic disorder in Caucasians.^{1 2} Data from the UK Biobank indicates that 380, 000 individuals in the UK have GH.³ GH causes the body to absorb excess iron which can lead to systemic iron overload within internal organs such as the liver, pancreas, heart, and joints; eventually causing inflammation and tissue damage. If untreated, this may lead to the development of liver cirrhosis with the increased risk of hepatocellular carcinoma. Early symptoms are non-specific such as fatigue, abdominal and joint pain which can result in a delay in diagnosis and treatment increasing the risk of complications. Treatment for GH involves lifelong therapeutic venesections, initially weekly during the de-ironing phase transitioning up to 3–6 monthly intervals in the maintenance phase. To date there has been little research examining patient’s thoughts and experiences of being diagnosed with and treated for GH. <h3>Aim</h3> A phenomenological study to explore patient experiences of receiving diagnosis, treatment, and the effect of genetic haemochromatosis on their lives. <h3>Method</h3> Data was collected using semi-structured interviews with a sample of 23 male and female GH patients, diagnosed between 1–30 years. The interview using broad themes covered their experience of diagnosis and treatment. The interviews were recorded and transcribed verbatim. Analysis of the data was conducted using thematic analysis. <h3>Results</h3> Several common themes emerged from the interviews regarding the diagnostic and treatment process. Many patients interviewed talked about experiencing a delay; in some cases of many years, from first presentation of symptoms to their General Practitioner to final diagnosis. Many of the patients frequently felt that General Practitioners lacked sufficient knowledge about GH and could not provide detailed information about the disease. Another prevalent theme was patients feeling unheard by healthcare professionals during both diagnosis and treatment, despite regular weekly interactions. <h3>Conclusion</h3> Early detection and treatment of GH rely on General Practitioner knowledge. This study identified that patients perceive significant gaps in General Practitioners’ understanding of GH. To enhance patient experience it is crucial for healthcare professionals to listen to and address patient concerns promptly throughout their treatment. These findings suggest that improved education for General Practitioners and other healthcare professionals involved in venesection could benefit patient care and improve the overall patient journey for those with haemochromatosis. <h3>References</h3> EASL Clinical practice Guidelines on haemochromatosis. <i>Journal of Hepatology</i>. 2022;<b>77</b>:479–502. Available at: EASL Clinical Practice Guidelines on haemochromatosis (journal-of-hepatology.eu) Accessed: 5th June 2024. Bacon BR, Adams PC, Kowdley KV, <i>et al.</i> Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. <i>Hepatology</i>. 2011;<b>54</b>(1):328–343. https://doi.org/10.1002/hep.24330. Melzer D, <i>et al.</i> ‘Hereditary Haemochromatosis - Estimates of Excess Disease In The UK’ Exeter Haemochromatosis research group, University of Exeter. July 2019.