Haemochromotosis

Question 1

what tf is it?

Answer 1

Inherited disorder of iron metabolism - increased iron absorption leading to deposits in joints, liver, heart, pancreas, adrenals and the skin

Genetics:
one of the commonest inherited conditions in N. Europe (carrier rate 1/10, homozygosity 1/2-400)
gene HFE found on short arm of ch. 6

Question 2

Presentation?

Answer 2

Early = nil or tiredness, arthralgia (2 + 3 MCP, knee and CPPD - pseudogout), ED 
Later = slate-grey skin pigmentation, hepatomegaly, signs of CLD, cirrhosis, dilated cardiomyopathy, osteoporosis
Endocrinopathies = bronze skin (aka bronze diabetes), hypogonadism

Question 3

Investigations

Answer 3

Bloods: 
Raised LFT, Raised Ferritin 
transferrin sat > 45% 
glucose raised
HFE genotype 

Imaging:
X-ray - chondrocalcinosis
Liver MRI - Fe overload

Biopsy:
Iron loading

ECG/ECHO:
?cardiomypoathy

Question 4

Management

Answer 4

Lifestyle:
low iron diet, well balanced
avoid alcohol
check OTC vitamins dont contain Fe

Monitor:
LFTs, Glucose, Fe studies

VENESECTION = 1 unit/1-3 weeks
- aiming for a ferritin < 50 mcg/L

Screening:

• Ferritin and genotype
• 1st degree relatives even if asymptomatic and normal LFTs

Question 5

Prognosis

Answer 5

Venesection returns life expectancy to normal if no DM or cirrhosis
Arthropathy can improve or worsen
Gonadal failure is irreversible
If cirrhosis has occurred then 20-30% develop HCC especially if other factors like age, HepB and alcohol