Abstract

Haemochromatosis is the most common single gene disorder affecting the population of the UK, resulting in iron overload and organ damage. Venesection (therapeutic phlebotomy) has been the primary treatment offered to patients for more than half a century. Despite the prevalence of the condition in the UK, there has been little progress in new treatments being offered over this time. Moreover, there is a lack of robust research to guide the optimal frequency, timing and treatment targets for venesection treatment in haemochromatosis. Retrospective cohort studies established a clear mortality benefit when treatment is commenced before the development of liver cirrhosis—assumed to be due to limiting the progression of liver disease and development of hepatocellular carcinoma. However, the benefit of venesection on symptoms of haemochromatosis lacks quality evidence. In this best practice description, we review the currently available literature on the benefits and limitations of venesection treatment. We describe current practice as reflected by the experiences of a multidisciplinary team of professional members of the British Society of Gastroenterology/British Association for the Study of the Liver haemochromatosis Special Interest Group. We describe a framework and recommendations for treatment in addition to describing the management of treatment side effects and complications. Through this work and the establishment of consistency in treatment, patients will benefit from better evidencebased care and the profession will be better able to identify the potential value of future treatments