Ferritin overload

Question 1

Haemochromatosis

What is it?

Answer 1

Autosomal recessive condition → increases Fe absorption by 2-3x
Mutations are called C282Y and H63D 
2 copies of C282Y 
1 copy of C282Y and 1 copy H63D 
2 copies of H63D 
(Ref: RACGP: Elevated serum Ferritin)

Question 2

What’s the ddx for elevated serum Ferritin?

Answer 2

metabolic Syndrome
Obesity 
Diabetes  
Infection 
Maligancny 
Hereditary Haemochromatosis 
Liver disease (chronic etoh, hepatitis b/c, fatty liver) 
 → injured hepatocytes leak ferritin into the serum

Question 3

When is the best time to measure serum ferritin levels?

Answer 3

Fasting early morning sample.

Avoid Fe tablets for 24 hours prior

Question 4

When is specialist r/v mandatory?

Answer 4

If serum ferritin exceeds 1000 micrograms/L → increases risk of fibrosis and cirrhosis above this threshold

Question 5

What is the measure that is fairly sensitive and specific for Hereditary Haemochromatosis?

Answer 5

Fe saturation >45%

Increasing specificity when threshold raised to 55%

Question 6

What are the consequences of iron overload?

Answer 6

Liver cirrhosis, Liver failure, HCC 
Diabetes
Cardiac Arrythmias 
Cardiomyopathy 
Arthropathy
Hypogonadism 
Skin Hyperpicmentation

Question 7

1/ what % of people with 2 copies of C282Y will have iron overload?

2/ what % of people with 1 copy of C282Y mutation and 1 copy of H63D mutation will have iron overload?

3/ what’s the likelihood of sx in people with 2 copies of H63D mutation?

Answer 7

1/ 50%
2/ 0.5-2%
3/ Haemochromatosis related s are rare in patients with 2 copies of H63D mutation

(Ref: NSW health, fact sheet 47, hereditary haemochromatosis)

Question 8

What is the prevalence of: 
1/ C282Y homozygous 
2/ C282Y / H63D 
3/ C282Y carrier
4/ H63D carrier

Answer 8

1/ 1 in 188 
2/ 1 in 46
3/ 1 in 8 
4/ 1 in 4 
(Ref: RACGP: Elevated serum Ferritin)