Haemochromatosis Flashcards Preview

Year 3: Gastro > Haemochromatosis > Flashcards

Flashcards in Haemochromatosis Deck (8)
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1
Q

define Haemochromatosis?

A

● Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.

2
Q

what is the genetic nature of Haemochromatosis?

A

● Autosomal recessive

● Caused be a defect in the HFE gene

3
Q

epidemiology of haemochromatosis?

A

● RARE
● Common in those of European descent.
● More frequent in middle aged men

4
Q

what are the early symptoms of haemochromatosis?

A

o Fatigue
o Weakness
o Arthralgia
o Erectile dysfunction

5
Q

what are the later symptoms of haemochromatosis?

A
o	Bronze pigmentation  
o	Diabetes mellitus 
o	Liver issues: chronic liver disease, hepatomegaly, cirrhosis, hepatocellular deposition. 
o	Cardiac failure 
o	Hypogonadism 
o	Arthritis
6
Q

what investigations are best for the general population and which investigation is best for family members?

A

● General population: Transferrin saturation and ferritin and TIBC

● Family members genetic testing for HFE mutation.

7
Q

what does a typical iron profile study look in a person with haemochromatosis?

A

o Raised transferrin saturation
o Raised ferritin and iron
o Low TIBC

8
Q

tests are diagnostic for haemochromatosis?

A

genetic testing and liver biopsy