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