Hemochromatosis Flashcards
1
Q
Triad
A
Micronodular cirrhosis
Diabetic mellitus
Skin pigmentation
“Bronze diabetes”
2
Q
Consequence
A
Results in CHF
Testicular atrophy in males
and increased risk of HCC
3
Q
Cause
A
1’ autosomal recessive: C282Y or H63D mutation on HFE gene. Associated with HLA-A3
2’ chronic transfusion (beta thalassemia major)
4
Q
Lab finding
A
Increased ferritin
Increased iron
decreased TIBC
Increased transferrin saturation.
Total body iron may reach 50g, enough to set off metal detectors at airpot
5
Q
Treatment
A
Phlebotomy
Deferasirox
Deferoxamine
