Haemochromatosis Flashcards
1
Q
What is Haemochromatosis?
A
XS Iron absorption = Organ damage
2
Q
Pathology of Haemochromatosis?
A
XS Iron = free radicals forming = damage > Cirrhosis (60%)
3
Q
1ary vs 2ndary Haemochromatosis?
A
1ary: Recessive mutation = dysregulation
2ndary: any OTHER Cause of XS iron
4
Q
Common Extrahepatic complications?
A
Pancreas: T1DM, malabsorption
Skin: Bronze pigmentation
Heart: Cardiomyopathy > arrhythmia
Joints: Arthritis
5
Q
Investigating suspected Haemochromatosis?
A
1) Serum Transferrin - raised, transferrin binding capacity - reduced
2) Ferritin - raised
3) Liver biopsy
6
Q
Management of Haemochromatosis?
A
1) Phlebotomy - remove blood until ferritin normalizes
2) Deferoxamine - Phlebotomy impossible