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Gastroenterology > Haemachromatosis > Flashcards

Haemachromatosis Flashcards

1
Q

What gene and chromosome cause haemachromatosis?

A

HFE gene
Chromosome
Autosomal recessive

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2
Q

What is pathophysiology of haemachromatosis?

A

Uncontrolled Fe absorption with deposition in liver, heart and pancreas

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3
Q

How is haemachromatosis diagnosed?

A

Raised ferritin and transferrin

Confirmed by HFE genotyping and liver biopsy

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4
Q

What stain is used in biospy for haemachromatosis?

A

Perls

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5
Q

What age do patients present with haemachromatosis

A

40s

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6
Q

How do patients present?

A 
Tiredness
Joint pain
Bronze skin
Hair loss
Erectile dysfunction
Ammennhorea
Mood and memory changes
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7
Q

What are complications of haemachromatosis?

A 
Cardiomyopathy
Cirrhosis
HCC
T1DM
Hypothyroid
Pseudogout
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8
Q

How is haemachromatosis managed?

A

Venesection
Monitor serum ferritn
Avoid alcohol
Genetic counselling

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Gastroenterology (17 decks)

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