{
  "abstract": "Introduction Haemochromatosis causes excess iron deposition in the liver thereby increasing the risk of cirrhosis and hepatocellular carcinoma (HCC). Patients who develop cirrhosis and/or HCC who meet specific criteria are eligible for liver transplantation. Approximately 1% of all liver transplants identify haemochromatosis as an indication. The risk of cirrhosis is further increased in the presence of cofactors such as alcohol excess and diabetes mellitus. We aimed to assess the prevalence of aetiological cofactors in patients with haemochromatosis who have undergone liver transplantation in the United Kingdom (UK).Methodology We included all patients who underwent liver transplantation in the UK from 1st April 2008 to 31st March 2023. Cases were identified from the UK Transplant Registry (UKTR) held by NHS Blood & Transplant where haemochromatosis was recorded as the primary, secondary or tertiary indication for transplantation. Each of the 7 UK liver transplant units retrospectively reviewed electronic patient data to identify patient demographics, investigations, medical history and mortality.Results A total of 123 patients (Male 86.2%) were identified as being transplanted with a diagnosis of haemochromatosis representing 1.08% of liver transplants during the study period. Genotypic data showed that 56 patients were C282Y homozygotes with the remaining being compound heterozygotes (n=19), non-HFE genotypes (n=2), genotype unknown (n=30) and other low risk HFE genotypes (n=16) (e.g. C282Y heterozygotes). Considering the recorded indications for liver transplantation, in addition to case note review, 82/123 (66.7%) patients transplanted with haemochromatosis had additional aetiological risk factors for cirrhosis, including previous harmful alcohol (in 47.2%), metabolic dysfunction-associated steatotic liver disease (in 26.0%) and viral hepatitis (in 6.5%). Among C282Y homozygotes, 53.6% (30/56) had additional cofactors, compared with 91.4% (32/35) of those with compound heterozygosity and other lower risk genotype (p<0.01, Fisher’s exact test).HCC was present in 56.1% (69/123) of patients. Amongst these, 39 (31.7%) were C282Y homozygotes and 9 (7.3%) were compound heterozygotes/other low risk genotypes. By comparison, according to the UKTR, among all patients listed for liver transplantation in UK during the same period, 2618/11409 (22.4%) had HCC.Conclusion Additional aetiological cofactors are very common in patients with haemochromatosis who require liver transplantation. This is particularly evident among patients with genotypes associated with less severe iron overload. This highlights the importance of actively monitoring and treating cofactors in patients with haemochromatosis.",
  "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": [
        "Newcastle NIHR Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust and Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Rachel Edwards"
    },
    {
      "affiliations": [
        "Newcastle NIHR Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust and Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"
      ],
      "name": "Steven Masson"
    },
    {
      "affiliations": [
        "Leeds Liver Unit, Leeds Teaching Hospitals NHS Trust, Leeds, UK"
      ],
      "name": "Abosede Ososanya"
    },
    {
      "affiliations": [
        "Leeds Liver Unit, Leeds Teaching Hospitals NHS Trust, Leeds, UK",
        "Leeds Institute for Medical Research, University of Leeds, , UK"
      ],
      "name": "Ian A Rowe"
    },
    {
      "affiliations": [
        "Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK"
      ],
      "name": "Charlotte Sewell"
    },
    {
      "affiliations": [
        "Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK",
        "University of Birmingham, Birmingham, UK"
      ],
      "name": "Laurence Hopkins"
    },
    {
      "affiliations": [
        "Liver Unit, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK",
        "Birmingham NIHR BRC, University of Birmingham, Birmingham, UK"
      ],
      "name": "Matthew Armstrong"
    },
    {
      "affiliations": [
        "Liver Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK",
        "Early Cancer Institute, University of Cambridge, Cambridge, UK"
      ],
      "name": "Andreas V Hadjinicolaou"
    },
    {
      "affiliations": [
        "Liver Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "William JH Griffiths"
    },
    {
      "affiliations": [
        "Sheila Sherlock Liver Centre, Royal Free NHS Foundation Trust, London, UK"
      ],
      "name": "Rebecca Brown"
    },
    {
      "affiliations": [
        "Sheila Sherlock Liver Centre, Royal Free NHS Foundation Trust, London, UK"
      ],
      "name": "Douglas Thorburn"
    },
    {
      "affiliations": [
        "Roger Williams Institute of Liver Studies, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King’s College London, Foundation for Liver Research and King’s College Hospital, London, UK"
      ],
      "name": "Vikram Bains"
    },
    {
      "affiliations": [
        "Roger Williams Institute of Liver Studies, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King’s College London, Foundation for Liver Research and King’s College Hospital, London, UK"
      ],
      "name": "Vishal C Patel"
    },
    {
      "affiliations": [
        "Scottish Liver Transplant Unit, Royal Infirmary of Edinburgh, Edinburgh, UK"
      ],
      "name": "Laura J Kitto"
    },
    {
      "affiliations": [
        "Scottish Liver Transplant Unit, Royal Infirmary of Edinburgh, Edinburgh, UK"
      ],
      "name": "Peter C Hayes"
    },
    {
      "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"
      ],
      "name": "Charles Millson"
    },
    {
      "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": "P146 High prevalence of aetiological cofactors in patients with haemochromatosis undergoing liver transplantation: a UK wide retrospective analysis",
  "uid": "a30b1a9f-c19a-5a97-a553-22a8445c29fe"
}