Haemochromatosis

Hereditary haemochromatosis is now well recognized as an inherited disorder of iron loading that is entirely preventable if recognized early. Diagnosis is non-invasive – HFE genotyping principally for C282Y homozygosity – and treatment simple. Clinicians in primary and secondary care are more attuned to thinking about haemochromatosis, with much earlier presentations the norm; however, the diagnosis is still missed, and irreversible morbidity from joint disease affects quality of life. There is a greater opportunity now for non-invasive fibrosis testing to exclude those who might be at risk of hepatocellular carcinoma, but overlap with fatty liver disease is common; therefore just treating the iron overload is not always sufficient and lifestyle measures can also need addressing.