haemochromatosis

Question 1

what is the definition for haemochromatosis?

Answer 1

genetic disorder that causes the body to absorb and store excess iron due to deficiency of the iron regulatory hormone hepcidin ( iron overload)

Question 2

what are the risk factors of haemochromatosis?

Answer 2

• middle age
• male- less likely in women due to Fe loss from periods
• alcohol

Question 3

what is the cause behind haemochromatosis?

Answer 3

autosomal recessive mutation of HFE gene ( chromosome 6)

Question 4

describe the pathology behind haemochromatosis

Answer 4

1. excess Fe uptake by transferrin- 1
   AND
   decreased hepcidin synthesis- this regulates Fe homeostasis
2. Fe accumulation + fibrosis of organs- such as liver, pancreas, kidney, heart, skin, anterior pituitary

Question 5

what is the range of values for normal iron?

Answer 5

3-4g

Question 6

what is the range of values for haemochromatosis?

Answer 6

20-30g

Question 7

what are the symptoms for haemochromatosis?

Answer 7

• fatigue
• joint pain
• hypogonadism
• slate grey skin
• liver cirrhosis symptoms
• osteoporosis
• heart failure

Question 8

what is the gross Fe overload triad?

Answer 8

1. bronze statue skin
2. hepatomegaly
3. T2DM

Question 9

how is haemochromatosis diagnosed?

Answer 9

1. Fe studies
2. genetic test
3. liver biopsy

Question 10

what would the Fe studies look like for someone with haemochromatosis?

Answer 10

• high serum Fe
• high ferritin
• high transferrin saturation
• low TIBC

Question 11

what would the genetic test look like for someone with haemochromatosis?

Answer 11

change in HFE gene

Question 12

what does the liver biopsy do for haemochromatosis?

Answer 12

assess degree of damage with Prussian blue stain

Question 13

what is the treatment for haemochromatosis

Answer 13

1st line- venesection- regulatory removing blood
2nd line- iron chelation
lifestyle changes- low alcohol, high exercise, avoid fruits