Haemachromatosis, Wilsons + Gilberts

Question 1

haemachromotosis
-type of inheritence?

Answer 1

autosomal recessive

Question 2

Haemachromatosis
-what mutation?

Answer 2

C282Y mutation on HFE on chromosome 6

(autosomal recessive inheritence)

Question 3

Haemachromatosis
-blood investigations?

Answer 3

initial= serum ferritin (high)

to tell the difference between other causes of increased ferritin= transferrin saturations (high/ >50%)

TIBC= low

Question 4

symptoms of haemachromatosis?

Answer 4

-Bronze skin
-Hepatomegaly
-Joint pain
-Chronic fatigue
-Testicular atrophy + erectile dysfunction
-Amenorrhoea
-Cognitive symptoms (mood and memory disturbance)

Question 5

management of haemachromatosis?

Answer 5

Weekly venesection
450-500ml blood removed
200-250g iron removed

Question 6

apart from bloods, what are other investigations for haemachromatosis?

Answer 6

Liver biopsy with Perl’s stain (can establish iron concentration in liver)

MRI (can picture and quantify iron concentration in liver avoiding biopsy)

Genetic testing (for mutations of HFE gene on chromosome 6)

Question 7

complications of haemachromatosis?

Answer 7

-secondary diabetes
-hypothyroidism
-cardiomyopathy
-liver cirrhosis
-hepatocellular carcinoma
-chrondrocalcinosis + arthritis
-Endocrine + sexual problems (infertility, amenorrhoea, hypogonadism + ED)