Haemochromatosis: investigation and management

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation. It is caused by the inheritance of mutations in the HFE gene on both copies of chromosome 6. It is often asymptomatic in early disease and initial symptoms often non-specific e.g. lethargy and arthralgia

Epidemiology

• 1 in 10 people of European descent carry a mutation in the genes affecting iron metabolism, mainly HFE
• prevalence in people of European descent = 1 in 200, making it more common than cystic fibrosis

Presenting features

• early symptoms include fatigue, erectile dysfunction and arthralgia (often of the hands)
• 'bronze' skin pigmentation
• diabetes mellitus
• liver: stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition)
• cardiac failure (2nd to dilated cardiomyopathy)
• hypogonadism (2nd to cirrhosis and pituitary dysfunction - hypogonadotrophic hypogonadism)
• arthritis (especially of the hands)

Questions have previously been asked regarding which features are reversible with treatment:

**whilst elevated liver function tests and hepatomegaly may be reversible, cirrhosis is not

Screening for iron overload

There is continued debate about the best investigation to screen for haemochromatosis.