Gastroenterology 5 - Haemochromatosis

Question 1

cause of haemochromatosis

Answer 1

HFE gene of chromosome six mutation

recessive

European white males

Question 2

symptoms x 7 of haemocrhom

Answer 2

chronic tiredness
bronzing of skin
hair loss
erectile dysfunction / amenorrhoea
joint pain 
memory/ mood probs

Question 3

diagnosing haemochromatosis

Answer 3

high serum ferritin and high transferrin sats with no other cause then do genetic testing

Question 4

CT signs of haemochrom

Answer 4

attenuation increase in the liver

Perl’s stain in biopsy

Question 5

complications x7 of haemochrom

Answer 5

type 1 diabetes 
cirrhosis 
endocrine/sexual probs (deposits)
cardiomyopathy (deposits)
hepatocellular carcinoma
hypothyroid
chondrocalcinosis - joints

Question 6

managing haemochrom

Answer 6

venesection
monitor serum ferritn
monitor complicx