GI: haemochromatosis Flashcards Preview

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Flashcards in GI: haemochromatosis Deck (8)
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1
Q

What is Haemochromatosis?

A

Iron storage disorder, results in excess iron in the body and causing it to be stored in the tissues

2
Q

What mutation is responsible for Haemochromatosis?

A

Human haemochromatosis protein (HFE) on chromosome 6, in most cases.
However, can be caused by other gene mutations

3
Q

What is the pattern of inheritance for Haemochromatosis?

A

Autosomal recessive

4
Q

When does Haemochromatosis present?

A

Usually over 40. Present later in women as menstruation helps remove iron from the body

5
Q

How does Haemochromatosis present?

A

Early stages: arthralgia and ED

Tiredness
Bronze colour
Hair loss
Amenorrhoea
Memory and mood disturbances

6
Q

How do you investigate potential haemochromatosis?

A

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

7
Q

What are the complications of Haemochromatosis?

A

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

8
Q

What is the treatment of Haemochromatosis?

A

Venesection
Monitoring serum ferritin
Monitoring and treating complications

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