Hemochromatosis Flashcards
Types of hemochromatosis?
Primary or acquired
Secondary (aka Hemosiderosis)
Hereditary hemochromatosis (HH) is autosomal ___________ (reccessive/dominant) disease
autosomal reccessive
The mutation is on the short arm of chromosome ___ and ass. w/ HLA A3 in HH
6
HH is more common in _________ (males/females)
males
HH is diagnosed 10-20 years after menopause but it is diagnosed earlier in males. Why?
Females have a way of losing extra iron through menses.
What is the pathogenesis of HH?
Increased iron absorption → Increased serum iron
Excess iron gets deposited in tissues
Excess iron makes free radicals that causes 3 things
1. Lipid peroxidation
2. Fibrosis
3. DNA damage causing HCC
Fibrosis occurs when iron in the liver is around or more than ________ ug
22000
What is the classic tetrad in HH?
Cirrhosis
Abnormal skin pigmentation
Diabetes mellitus
Restrictive cardiomyopathy
Classic tetrad is usually seen _________ (early/late) in HH
late
Symptoms develop when iron is more than ____ gm in the body
20
What r the clinical findings in HH
Cirrhosis, Hepatomegaly Diabetes mellitus Malabsorption Restrictive CM and arrhythmias Hypogonadism Acute synovitis and pseudogout, DJD Slate gray color of skin
What is bronze diabetes?
Hemochromatosis is sometimes referred to as bronze diabetes because it can lead to darkening of the skin and hyperglycemia
MCC of death in HH is _______
HCC
What will be the results of iron profile? Iron Ferritin Transferrin TIBC Transferrin iron saturation
Iron ↑ Ferritin ↑ Transferrin ↓ TIBC ↓ Transferrin iron saturation ↑
What will be other lab findings other than iron profile?
Hyperglycemia
↓ LH and ↓FSH