Hereditary haemochromatosis

• Inherited disorder of iron metabolism with increased intestinal absorption and deposition in multiple organs – joints, liver, heart, pancreas, pituitary, adrenals, skin
• Presents earlier in men as menstrual blood loss is protective

Genetics

• Gene is HFE on chromosome 6

Clinical features

• Presents generally with tiredness and arthralgia (MCP and large joints)
• Slate grey pigmentation
• DM
• Chronic liver disease – hepatomegaly, cirrhosis, heart failure (dilated cardiomyopathy)
• Hypogonadism
• Osteoporosis

Tests

• Increased LFTs, increased ferritin and serum iron
• Reduced TIBC
• Transferring saturation >80%

Management

• Venesection – 1 unit/wk until mildly iron deficient and then 1 unit every 2-3mth
• Monitor for DM
• Make sure that over the counter vitamins are iron free
• Tea, coffee and red wine reduce iron absorption during meals
• Fruit and fruit juices and white wine increase iron absorption during meals
• Screen first degree relatives

Prognosis

• Venesection returns life expectancy to normal if non-cirrhotic and non-diabetic
• Cirrhotic patients have a 10% risk of developing HCC

Secondary haemachromatosis

• Can occur in any haematological condition that requires many transfusions