Haemochromatosis: Investigation and Management

Key points

• Hereditary haemochromatosis: autosomal recessive iron overload, usually from HFE C282Y homozygosity (or C282Y/H63D compound heterozygosity).
• Screening: transferrin saturation is the most useful marker (raised), with ferritin (raised, though it can be normal early).
• Diagnosis: HFE genetic testing for C282Y and H63D; liver biopsy (Perls' stain) or MRI to assess iron loading and fibrosis if ferritin is very high.
• Features: fatigue, arthralgia (2nd/3rd MCP joints), bronze skin, diabetes ('bronze diabetes'), hypogonadism, cardiomyopathy and cirrhosis (with hepatocellular carcinoma risk).
• Management: regular venesection to deplete iron then maintenance venesection; desferrioxamine (chelation) if venesection is not tolerated; screen relatives; monitor for HCC in cirrhosis.