haemochromatosis

Question 1

inheritance of haemochromatosis

Answer 1

autosomal recessive

• mutations in HFE gene on both copies of chromosome 6

Question 2

prevalence of haemochromatosis

Answer 2

1 in 200 in people of european descent
–> more common than cystic fibrosis !!

Question 3

early symptoms of haemochromatosis

Answer 3

fatigue
erectile dysfunction
arthralgia - often of the hands

Question 4

other features of haemochromatosis

Answer 4

“bronze” skin pigmentation
**diabetes **
liver disease - hepatomegaly, cirrhosis, spider naevi

cardiac failure - 2nd to dilated cardiomyopathy
hypogonadism

arthritis

Question 5

hypogonadism in haemochromatosis

Answer 5

2nd to cirrhosis + pituitary dysfunction

= hypogonadotrophic hypogonadism

Question 6

reversible complications of haemochromatosis

Answer 6

cardiomyopathy
skin pigmentation

Question 7

irreversible complications of haemochromatosis

Answer 7

liver cirrhosis
diabetes
hypogonadotrophic hypogonadism
arthropathy

Question 8

screening for iron overload in haemochromatosis

Answer 8

general population = transferrin saturation

testing* fam members *= genetic testing for HFE mutation

Question 9

typical iron study in a patient with haemochromatosis

Answer 9

transferrin saturation
- men = >55%
- women = >50%

raised ferritin >500

low TIBC

Question 10

further tests in someone with haemochromatosis

Answer 10

liver function tests
MRI - quantify liver + cardiac iron

suspected liver cirrhosis = liver biopsy

Question 11

management of haemochromatosis

Answer 11

1st = venesection

2nd = desferrioxamine

Question 12

monitoring the management of haemochromatosis

Answer 12

monitoring adequacy of venesection;

levels should be;
- transferrin saturation <50%
- serum ferritin conc <50

Question 13

what condition is are patients with haemochromatosis regualarly screened for

Answer 13

hepatocellular carcinoma

via US