GI: haemochromatosis Flashcards
What is Haemochromatosis?
Iron storage disorder, results in excess iron in the body and causing it to be stored in the tissues
What mutation is responsible for Haemochromatosis?
Human haemochromatosis protein (HFE) on chromosome 6, in most cases.
However, can be caused by other gene mutations
What is the pattern of inheritance for Haemochromatosis?
Autosomal recessive
When does Haemochromatosis present?
Usually over 40. Present later in women as menstruation helps remove iron from the body
How does Haemochromatosis present?
Early stages: arthralgia and ED
Tiredness
Bronze colour
Hair loss
Amenorrhoea
Memory and mood disturbances
How do you investigate potential haemochromatosis?
Bedside:
* obs - HR, BP, Temp, Sats, RR
* ECG - as complications include cardiac failure and cardiomyopathy
* Blood glucose - can present with DM
Bloods:
* Serum ferritin and transferrin saturation- if both high, genetic testing to check for Haemochromatosis
* FBC - presents with fatigue - so check Hb and also WCC, platelets etc
* U+Es - to do for baseline and before interventiosn are started
* LFTs - can cause chronic liver disease, hepatomegaly, cirrhosis.
* CRP - check for any inflam.
Imaging
* MRI of heart and brain - to look at any iron deposition
* CT abdo - can show attenuation of the liver
Procedures:
* Liver biopsy- confirm increased iron stores (usually done after genetic testing if needed)
* genetic testing of HFE mutation, C282Y and H63D mutations
What are the complications of Haemochromatosis?
Type 1 diabetes
Liver cirrhosis
Iron deposits in pituitary and gonads–> endocrine and sexual problems
Cardiomyopathy
Hepatocellular carcinoma
Hypothryoidism
Chrondocalcinosis - aka pseudo gout with calcium pyrophosphate crystals
What is the treatment of Haemochromatosis?
Venesection
Monitoring serum ferritin
Monitoring and treating complications
