Hereditary Hemachromatosis Flashcards
Where is the Hemachromatosis gene (HFE) most common?
In Northern Europe (5/1000 people homozygous)
Is HFE AD or AR?
AR
What is the most common HFE disorder?
Type 1, C282Y mutation and is diagnostic
What are the Hepcidin levels in Hemachromatosis and what does this lead to?
Low hepcidin lead to iron accumulation over years. Hepcidin stays low even in iron overload.
Describe Iron Regulation in Hemachromatosis.
Inappropriately low hepcidin levels lead to iron absorption in GI tract continuing in spite of increased iron stores
What are the 8 clinical symptoms of hemachromatosis?
1) Liver function abnormalities (75%)
2) Weakness and lethargy (74%)
3) Skin hyperpigmentation (70%)
4) Diabetes mellitus (48%)
5) Arthralgias (44%)
6) Impotence in men (45%)
7) Electrocardiographic changes (31%)
8) Hepatomas (20 fold increase)
What are the lab findings in hemachromatosis?
1) WBC, Hematocrit, Platelets = normal
2) Serum iron > 180 mb/dl
3) Iron binding capacity is normal to low
4) % saturated > 62%
5) Serum ferratin > 800 mg/liter
6) Liver biopsy with increased iron
What is the treatment for hemachromatosis?
Phlebotomy, moderate to sever disease have 500-1000 ng/ml of serum ferratin so the goal is to maintain that at below 50 ng/ml
How many weekly phlebotomies would a patient with 10 gm of iron stores require?
30
What is the aim for ferratin level every 3 months?
20-50 ng/ml
What should the diet of a hemachromatosis patient consist of?
Avoid raw shellfish, eat less fat and animal protein, more fruits and veggies, avoid vitamins (C), avoid alcohol
What results from phlebotomies?
General health improvement, hyperpigmentation lessens, arthralgias may disappear, diabetes will not improve, stops cirrhosis of the liver (if cirrhosis has not occured prior to phlebotomy, hematoma does not develop)
If hemachromatosis is suspected clinically, how is it confirmed?
HFE gene mutation; reverse is NOT true. Most patients with mutations will not develop hemachromatosis
How is the HFE mutation detected?
PCR analysis
Who should you screen of a relative and when?
Relatives over 20, every 2-3 years
