Haemochromatosis Flashcards
1
Q
What is the underlying pathological feature of haemochromatosis?
A
- Low hepcidin expression and subsequent accumulation of iron in multiple organs
2
Q
What are the history and examination signs you might expect in someone with haemochromatosis?
A
- “Bronzed diabetes” - iron accumulation in skin and liver failure
- Fatigue, lethargy
- Erectile dysfunction
- Hepatomegaly, grey patches in mouth
- Signs of chronic liver disease and CCF
3
Q
What are the prinicples of management of haemochromatosis?
A
- Minimisation of damage
- Monitoring, HAV/HBV vaccination, iron avoidance
- Active treatment
- Phlebotomy (or chelation therapy)
