Haematochromatosis Flashcards
1
Q
What is haemochromatosis
A
Aut Recessive mutation of HFE gene (Ch6) causing hyperpigmentation by excessive iron uptake
2
Q
What are the RF for haemochromatosis
A
FHx
Male
50+
3
Q
What is the pathology of Haemochromatosis
A
Excess Fe by Transferrin 1 = accumulation Decrease Hepcidin (Regulates iron) Organ fibrosis (mainly Liver)
4
Q
What does Hepcedin do
A
Iron regulating protein
5
Q
What is triad of iron excess presentations in haemochromatosis
A
Bronze skin
Hepatomegaly
T2DM
6
Q
What is investigated in haemochromatosis
A
Raised iron studies w/ low TIBC (opposite Fe anaemia)
Genetic test - Changed HFE gene
LIver biopsy - (Extent of liver damage with PB stain)
7
Q
How is haemochromatosis treated
A
Venesection (RBC removal)
CI? Desfernoxamine
Low iron diet and avoid fruits
