Gastrointestinal System >
Haemochromatosis
“Body absorbs too much iron from diet”
Aetiology
- Primary hereditary Hemochromatosis on chromosome 6 (no regulation of how much iron is absorbed into the blood)
- Secondary (increased blood transfusions)
Pathophysiology
- Increased iron absorption from the body
- Deposition of Iron in liver, pancreas, skin, pituitary gland
- Free radicals
- Cellular damage
- Tissue fibrosis
Clinical Presentation
- Fatigue
- Arthralgia
- Decreased libido
- Later: skin pigmentation, cirrhosis, cardiomyopathy, hypogonadism
Investigations
- FBC
- Increased LFTs
- Increased Fe
- Total binding capacity reduced (most occupied due to increased iron)
- Ferritin increased
- Increased transferrin saturation
- Liver biopsy
Management
- Venesection
- Bloodletting to reduce ferritin to <50mg/L every 2-3m for a lifetime
Complications
- Liver – Iron build-up, cirrhosis and Hepatocellular Carcinoma risk
- Pancreas – T1 Diabetes due to ß cell destruction
- Skin – bronze pigmentation
- Heart – CardiomyopathyJoint difficulties