Hemochromatosis Flashcards
How much iron do we absorb and excrete daily
1-2 mg/day
How much iron do we typically store in our body
3-4 grams
- circulating hemoglobin in RBCs
- iron containing proteins
- iron bound to transferrin
- iron stored as ferritin
What does the TSAT test tell us
the amount of transferrin sites bound by iron
(low TSAT = iron deficiency anemia, high TSAT = iron overload)
Describe the storage of iron
- stored by ferritin mostly in hepatocytes
- inverse relationship with transferrin/TIBC
- ferritin is an acute phase reactant (high in infection)
Describe how hepcidin deficiency in hereditary hemochromatosis works
Low hepcidin = reduced regulation of iron absorption (intestinal enterocyte absorption & hepatic store release) = iron overload
Is there a normal iron loss that can help mitigate too much iron absorption?
No
- normal loss of 1mg per day in normal sweat/cell shedding
- normal loss of 1mg/day with menses
Describe the etiology of hereditary hemochromatosis
Describe the presentation of hereditary hemochromatosis
Describe the diagnostic testing for hemochromatosis
Describe the treatment for hereditary hemochromatosis
Describe the “bronze diabetes” triad and what disease process it is commonly seen in
Bronze diabetes: cirrhosis, DM, skin hyperpigmentation seen in hemochromatosis
What are the complications of hemochromatosis
Increased risk of ALS, infection, hepatocellular carcinoma, pseudogout
How many mg of iron are removed in therapeutic phlebotomy for hereditary hemochromatosis
approximately 200-250 mg (500 ml/1 pint)
maintenance usually q3-6 mos
