Haemachromatosis

Question 1

what is the genetic mutation responsible for haemachromatosis?

Answer 1

mutation of the HFE gene on chromosome 6

Question 2

what are the features of haemochromatosis?

Answer 2

early symptoms - fatigue, erectile dysfunction and arthralgia

skin pigmentation 
arthritis 
hypogonadism 
chronic liver failure symptoms 
diabetes mellitus 
cardiac failure (dilated cardiomyopathy)

Question 3

what screening test is used for haemochromatosis?

Answer 3

transferrin saturation
genetic testing for HFE mutation
ferritin (normal in early stage of disease)

Question 4

what are diagnostic tests for haemochromatosis?

Answer 4

liver biopsy: Perl’s stain

molecular genetic testing for C282Y and H63D mutations

Question 5

what transferrin saturation is diagnostic for haemochromatosis in males and females?

Answer 5

males > 55%

females > 50%

Question 6

what level of ferritin is seen in haemochromatosis?

Answer 6

raised ferritin > 500ug/L

Question 7

what is 1st and 2nd line treatment for haemochromatosis?

Answer 7

1st line: venesection

2nd line: desferrioxamine

Question 8

what are reversible complications of haemochromatosis?

Answer 8

skin pigmentation

dilated cardiomyopathy

Question 9

what are irreversible complications of haemochromatosis?

Answer 9

arthritis
diabetes mellitus
liver cirrhosis
hypogonadotrophic hypogonadism