{
  "abstract": "Background Haemochromatosis can lead to cirrhosis and hepatocellular carcinoma (HCC) due to iron overload in the liver. In recent decades, access to genetic testing, family screening and increasing awareness of haemochromatosis has led to earlier diagnosis. Treatment with venesection is known to reduce the risk of developing cirrhosis and improve mortality. Current estimates of cirrhosis in patients with haemochromatosis vary depending on the study design and population. We aimed to undertake a large population-based study to evaluate the prevalence of cirrhosis and its associated complications among patients with haemochromatosis in England as well as identify the role of cofactors in the development of these outcomes.Methodology The Hospital Episodes Statistics Admitted Patient Care database from NHS England was used to identify haemochromatosis patients in England using a validated algorithm 1 from 1st April 2007 to 31st March 2024. The International Classification of Diseases 10th revision diagnosis codes and the OPCS Classification of Interventions and Procedures 4th revision procedure codes were used to identify the presence of cirrhosis, cirrhosis related complications and cofactors. Survival was analysed using the Office for National Statistics mortality database. Analysis was conducted using Stata 18.Results Among 40199 patients (men 64.57%) with haemochromatosis in England over the 17-year study period, cirrhosis was present in 7.95% (n=3197). Admissions related to liver decompensation were seen in approximately a third of cirrhotic patients. The odds ratio for cirrhosis among men and women who consume alcohol harmfully was 8.29 (95% CI 7.58–9.06) and 15.07 (95% CI 12.83–17.70) respectively. Both men and women were approximately 4 times more likely to develop cirrhosis if diabetes was present (95% CI 3.75–4.38).HCC was seen in 715 (1.78%) patients of whom 523 also had cirrhosis and 662 (92.6%) were men. Those with hepatitis C had the highest odds of developing HCC (OR 21.38, 95% CI 15.14–30.19). The odds ratio for HCC among patients with harmful alcohol consumption and diabetes was 4.48 and 5.20 respectively. Patients with harmful alcohol intake and at least one metabolic risk factor had increased mortality compared to those without these cofactors.Conclusion Our study highlights the prevalence of cirrhosis and HCC to be lower than previously reported among haemochromatosis patients. 2–4 The presence of cofactors especially alcohol and diabetes increases the risk of developing cirrhosis, HCC and mortality. Alongside treatment of haemochromatosis, it is crucial for healthcare professionals to evaluate and actively manage cofactors to reduce the risk of morbidity and mortality.References Singh P, Millson C, Huang C and Driver RJ. Identifying haemochromatosis patients with C282Y homozygosity from inpatient electronic patient records in England using a novel algorithm: a retrospective observational study. BMJ Open. 2025;15:e089369. 20250218. DOI: 10.1136/bmjopen-2024–089369.Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the american association for the study of liver diseases. Hepatology. 2011;54:328–343. DOI: 10.1002/hep.24330.Adams PC, Passmore L, Chakrabarti S, et al. Liver diseases in the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol. 2006;4:918–923;quiz 807. DOI: 10.1016/j.cgh.2006.04.013.Zoller H, Schaefer B, Vanclooster A, et al. EASL clinical practice guidelines on haemochromatosis. J Hepatol. 2022;77:479–502. doi: 10.1016/j.jhep.2022.03.033.",
  "authors": [
    {
      "affiliations": [
        "Department of Hepatology, York And Scarborough Teaching Hospitals NHS Foundation Trust, York, UK",
        "Institute of Clinical and Applied Health Research, Hull York Medical School, University of Hull, Hull, UK"
      ],
      "name": "Prabhsimran Singh"
    },
    {
      "affiliations": [
        "Department of Hepatology, York And Scarborough Teaching Hospitals NHS Foundation Trust, York, UK"
      ],
      "name": "Charles Millson"
    },
    {
      "affiliations": [
        "Institute of Clinical and Applied Health Research, Hull York Medical School, University of Hull, Hull, UK"
      ],
      "name": "Chao Huang"
    },
    {
      "affiliations": [
        "Department of Hepatology, York And Scarborough Teaching Hospitals NHS Foundation Trust, York, UK",
        "Institute of Clinical and Applied Health Research, Hull York Medical School, University of Hull, Hull, UK"
      ],
      "name": "Robert Driver"
    }
  ],
  "title": "O1 The prevalence of liver cirrhosis and its associated complications among patients with hereditary haemochromatosis in England (PREDISPOSE HEME)",
  "uid": "c6da4f07-a133-5c51-97a0-1923ba3e76b6"
}