HH

Question 1

What is hereditary heamochromatosis

Answer 1

Inherited disorder of iron metabolism
Causing inc absorption of iron from intestines
Causing iron deposition in joints, liver, heart, pancreas, pituitary, adrenals, skin

Question 2

What is a protective factor for the age of onset of HH

Answer 2

Being female as menstruation is protective of iron overload

Question 3

What is the gene responsible

Answer 3

HFE

Question 4

What are the commonest mutation of the gene which is more responsible

Answer 4

C282Y - more common

H63D

Question 5

Does everyone who has these gene mutations get HH

Answer 5

No there is variable penetrance

Question 6

What are the symptoms of HH

Answer 6

Early: none, tiredness, arthralgia knee-pseudogout, 2nd3rd MCP, dec libido
Later: slate-grey skin pigmentation, signs of chronic liver disease, hepatomegaly, cirrhosis esp alcohol, dilated cardiomyopathy
Endocrinopathies: DM (bronze DM) iron deposition in pancreas causing it, hypoginadism pituitary dysfunction

Question 7

Tests

Answer 7

Blood inc LFTs
Inc ferritin
Inflame can also cause increase ferritin 
Inc transferrin saturation 
Confirm HFE genotyping 
Images - X-ray chondrocalcinosis 
Liver cardiac MRI looking for iron dep
Biopsy- Perl’s stain quantifies loading and assess disease severity

Question 8

Management

Answer 8

Conservative - diet well balanced, avoid uncooked sea food due to infection, avoid alcohol.
OTC- vitamins need to be non iron containing
Medical- venesection
0.5-2units/ 1-2 weeks until ferritin <50
Lifelong venesection 1 unit every 2-3 months
Desferrioxamine if intolerant
Monitor LFT and glucose HbA1c may be incorrect due to the venesection
Cirrhosis - HCC screen

Question 9

Is the general public screened

Answer 9

No due to the differing penetrance may have gene but not iron overload

Question 10

Who is screened and what is looked

Answer 10

First degree family members
Genotype
Ferritin
Transferrin