Haemochromatosis Flashcards

1
Q

What is Haemochromatosis?

A

XS Iron absorption = Organ damage

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2
Q

Pathology of Haemochromatosis?

A

XS Iron = free radicals forming = damage > Cirrhosis (60%)

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3
Q

1ary vs 2ndary Haemochromatosis?

A

1ary: Recessive mutation = dysregulation
2ndary: any OTHER Cause of XS iron

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4
Q

Common Extrahepatic complications?

A

Pancreas: T1DM, malabsorption
Skin: Bronze pigmentation
Heart: Cardiomyopathy > arrhythmia
Joints: Arthritis

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5
Q

Investigating suspected Haemochromatosis?

A

1) Serum Transferrin - raised, transferrin binding capacity - reduced
2) Ferritin - raised
3) Liver biopsy

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6
Q

Management of Haemochromatosis?

A

1) Phlebotomy - remove blood until ferritin normalizes

2) Deferoxamine - Phlebotomy impossible

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