Haemochromatosis

Question 1

Haemochromatosis inheritance ?

Answer 1

autosomal recessive - CHROMOSOME 6
HFE gene !

Question 2

haemcjromatossis is more prevalent than ?

Answer 2

1 in 200, making it more common than cystic fibrosis

Question 3

early symptoms ?

Answer 3

fatigue,

erectile dysfunction
and

arthralgia (often of the hands)

Question 4

late manifestation ?

Answer 4

‘bronze’ skin pigmentation / grey slate appearance

diabetes mellitus

liver: stigmata of chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition)

cardiac failure (2nd to dilated cardiomyopathy)

hypogonadism (2nd to cirrhosis and pituitary dysfunction - hypogonadotrophic hypogonadism)

arthritis (especially of the hands -metacarpophalangeal joint

Question 5

Irreversible complications

Answer 5

Liver cirrhosis

Diabetes mellitus

Hypogonadotrophic hypogonadism
Arthropathy

Question 6

Reversible complications

Answer 6

Dilative Cardiomyopathy

Skin pigmentation

Question 7

Initial screening for haemochromatosis

Answer 7

: transferrin saturation > ferritin
Transferrin saturation > 50 percent

raised ferritin (e.g. > 500 ug/l) and iron

low TIBC

Question 8

Definitive diagnosis

Answer 8

Family members genetic test

liver biopsy is now generally only used if suspected hepatic cirrhosis

Question 9

Mx of hamechromatosis ?

Answer 9

venesection is the first-line treatment
monitoring adequacy of venesection: transferrin saturation should be kept below 50% and the serum ferritin concentration below 50 ug/l

desferrioxamine may be used second-line

Question 10

what are the specific changes in haemachromatosis of the hands ?

Answer 10

d hook-like osteophytes at the 2nd and 3rd digits at the metacarpophalangeal joints.

Question 11

What is seen on biopsy of the joints in Haemachromatosis ?

Answer 11

calcium pyrophosphate crystals