Transcript Hemochromatosis

Hemochromatosis
Bryan Imayanagita
7/30/10
Background
 Metabolic
disorder
 Abnormal buildup of iron
 Hemosiderosis vs.
hemochromatosis
 Primary vs. secondary
Pathophysiology
 autosomal
recessive disorder
 single site mutation, in the HFE gene
 Lower levels of hepcidin
 increased total body iron stores of up
to 20-40 g, (normal: 1-3 g)
Presentation
Liver cirrhosis with 30% of those having
hepatocellular carcinoma
 Diabetes
 Cardiomyopathy
 Tanning of the skin
 arthritis
 40% of males develop pituitary
hypogonadism

Diagnosis
 Usually
escapes early detection
 Blood tests
ferritin test and the transferring
saturation
 MRI preferred over CT
Treatment
 Bloodletting
Anemia
can occur
 deferoxamine
Sources


http://emedicine.medscape.com/article/369012
-overview
http://www.healthscout.com/ency/68/743/mai
n.html