P108 Service Evaluation of Hereditary Haemochromatosis Management in a District General Hospital: Identifying Gaps and Opportunities for Standardisation

<h3>Background</h3> Hereditary haemochromatosis (HH) is an inherited condition leading to iron overload. Management of HH varies significantly across the UK as highlighted by results of the recent national venesection survey. We undertook a comprehensive review of our district general hospital (DGH) HH cohort to evaluate current service provision, identify patients requiring Hepatology review, and explore opportunities for discharge or alternative management pathways. <h3>Methods</h3> We retrospectively collected clinical, radiological and laboratory data for patients under the care of our Haematology team for active HH management. Data points included HFE genotype, current and peak ferritin, peak transferrin saturation (TS) and liver enzyme derangement triggering Hepatology referral as well as assessment for complications of HH and factors contributing to hyperferritinaemia including HbA1c, lipid profile, BMI, alcohol assessment, DEXA scanning, FibroScan and liver imaging. Data was also collected on venesection status, with review of indication, appropriateness and frequency of venesection. <h3>Results</h3> A total of 194 patients were identified. 115/194 (59%) were C282Y homozygous, 10/194 (5%) H63D homozygous, 56/194 (29%) compound heterozygous and 7/194 (3%) simple heterozygous. 1 patient had ferroportin disease, 2 had not had HFE status checked, and 3 patients had normal HFE genotyping. Our cohort revealed several key themes: In 27/194 (14%) of patients, ongoing venesection was not deemed appropriate following multidisciplinary review in context of age or comorbid status. 50/56 (89%) of compound heterozygotes were venesected, of which 6/50 (12%) had liver iron assessment prior to venesection. 4/194 (2%) of patients were donating blood. There was variation in: Criteria for Hepatology referral. Use of ancillary investigations (DEXA, imaging, blood tests). Clinical evaluation for risk factors for hyperferritinaemia including the metabolic syndrome. Venesection targets were based on TS &lt;50% and ferritin &lt;50 as per Haematology guidance, with variability in venesection frequency and intervals. As a result of this review, 72/194 patients (37%) were discharged from the HH service, and 117/194 patients’ (60%) HH care was referred for review by the Hepatology team. <h3>Conclusion</h3> Our findings highlight a lack of standardisation in the management of HH, echoing national survey results. Our service evaluation included individualised multidisciplinary review of each case leading to discharge or cessation of venesection in a significant proportion, and resulting in a managerial shift within the service. We propose that local and national HH services should be re-evaluated with a view to developing unified, evidence-based care pathways to optimise outcomes and resource utilisation.