Haemochromatosis

Excess iron within the liver

Aetiology

  • Monogenetic autosomal recessive disease of iron overload
    • C282Y or H63D → mutations in HFE gene → failure of the signal to stop iron reabsorption

Pathophysiology

  • Iron deposited in the liver, asymptomatic for years
  • Eventually iron is deposited in portal connective tissue → stimulates fibrosis → cirrhosis if not treated → can lead to hepatocellular carcinoma
  • Iron overload from diet, transfusions or iron therapy can also lead to haemochromatosis (secondary disease)

Clinical presentation

  • Usually begins with non-specific symptoms e.g. lethargy, malaise, erectile dysfunction
  • Later symptoms include skin discolouration, cirrhosis, cardiomyopathy and pancreatic failure - ‘the bronzed diabetic’

Investigations

  • Bloods - ↑ ferratin and iron
  • Deranged LFTs (late sign)
  • Genetic testing

Management

  • Venesection