Haemochromotosis Flashcards
1
Q
What is the best serum marker of iron overload?
A
Elevated ferritin level (>250)
2
Q
Who should be screened after diagnosis of haemochromatosis?
A
Fist degree relatives > 18.
Older relatives: serum ferritin + serum transferrin
Younger relatives: HFE genetic testing
3
Q
What is haemochromatosis?
A
Single gene disorder causing iron overload. Usually autosomal recessive.
Can affect heart (restrictive cardiomyopathy), liver (cirrhosis and 10% develop cancer), pancreas (bronze diabetes), skin, pituitary (hypogonadism, impotence), joints (arthralgia, especially hands)
