Haemochromatosis Flashcards Preview

Gastoenterology > Haemochromatosis > Flashcards

Flashcards in Haemochromatosis Deck (5)
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1
Q

Definition of haemochromatosis

A
  • Iron storage disorder resulting in excessive total body iron and deposition of iron in tissues
  • HFE gene located on chromosome 6
  • AR inheritance
2
Q

Presentation of haemochromatosis

A
  • Chronic tiredness
  • Joint pain
  • Pigmentation (bronze/slate-grey colour)
  • Hair loss
  • Erectile dysfunction
  • Amenorrhoea
  • Cognitive symptoms (memory and mood disturbance)
3
Q

Diagnosis of haemochromatosis

A
  • Serum ferritin (acute phase reactant meaning that it goes up in inflammatory conditions)
  • Transferrin saturation helpful in distinguishing between raised ferritin in iron overload (also high)
  • Genetic testing can confirm diagnosis
  • Liver biopsy with Perl’s stain is gold standard
4
Q

Complications of haemochromatosis

A
  • T1DM
  • Liver cirrhosis
  • Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhoea, infertility)
  • Cardiomyopathy
  • HCC
  • Hypothyroidism
  • Chondrocalcinosis/pseudogout
5
Q

Management of haemochromatosis

A
  • Venesection (weekly)
  • Monitoring serum ferritin
  • Avoid alcohol
  • Genetic counselling
  • Monitoring of treatment and complications