Hereditary hemochromatosis

Question 1

what is hereditary hemochromatosis ?

Answer 1

autosomal recessive disorder which causes increased iron resorption in the small intestines

• resulting in damage to liver , pancreases , heart and hyophysis

men affected more and age 45

Question 2

what is the etiology of hereditary hemorchromatoss?

Answer 2

mutation of HFE GENE IN CHORMOSOME 6

THEY MONITO THE CONCentration of iron bound to transferring

defect in this gene SUGGEST and iron deficiency on the transferring molecules even if there is not

resulting in increased resorption of iron via enterocytes

Question 3

what is the clinical manifestation ?

Answer 3

most of the time asymptomatic

and onset is at 3rd and 5th decade of life

abdominal pain and arthralgia esp symmetrical metocarpophalangeal joints

fibrosis and cirrhosis of the liver and its complications

disposition in pancreases = diabetes mellitus disturbed glucose tolerance

on cardiac muscles - dilative cardiomyopathy and arrhythmia

hypophysis - hypogonadism , darker pigmentation because of disturbed melanin levels
= bronze diabetes

erectile dyfunction

Question 4

how can we diagnose hereditary hemochromatosis?

Answer 4

lab 
increased serum iron 
decrease total iron binding capacity 
increased ferritin 
increased transferrin saturation 
increased liver enzymes 

liver biopsy
iron level of the liver 2-30mg/g
prussian blue staining

genetic testing
indicated with first degree relatives
and mutation in gene

Question 5

what is the treatment ?

Answer 5

low iron diet
restrict alcohol and vit c

consume tea

theraputic phlebotomy

iron chelation
used when phlebotomy is contraindicated such as anemia or severe heart failure
deferoxamine

Question 6

what is the cause of secondary hematochromatosis ?

Answer 6

iron overload due to 
transfusion 
thalesemia 
sickle cell 
excessive alcohol consumption