Haemochromatosis Flashcards
What is haemochromatosis?
An iron storage disorder that results in excessive total body iron and deposition of iron in tissues
Most cases are due to mutation in the human haemochromatosis protein (HFE) gene on chromosome 6
Inheritance is autosomal recessive
This gene is important in regulating iron metabolism.
Presentation of haemochromatosis
Chronic tiredness
Joint pain (due to iron deposits in joints)
Pigmentation (bronze / slate-grey discolouration)
Hair loss
Erectile dysfunction
Amenorrhoea
Cognitive symptoms (memory and mood disturbance)
Sx often appear in over 40s in men or post menopausal in women - this is when iron overload becomes symptomatic
Diagnosis and investigations of haemochromatosis
Serum ferritin - high
Transferrin saturation:
- To distinguish between high ferritin due to iron overload and due to inflammation/NAFLD (ferritin is an acute phase reactant that goes up with inflammatory conditions)
- Would be high iron overload
Genetic testing if both ferritin and transferrin high and no possible other explanation - to confirm haemochromatosis
- This is the gold standard
CT abdo - can show non-specific increase in liver attenuation (iron overload in liver tissue)
MRI - can show detailed picture of iron deposits in liver and heart
Complications of haemochromatosis
Type 1 Diabetes (iron affects the functioning of the pancreas)
Liver Cirrhosis
Iron deposits in the pituitary and gonads lead to endocrine and sexual problems (hypogonadism, impotence, amenorrhea, infertility)
Cardiomyopathy (iron deposits in the heart)
Hepatocellular Carcinoma due to cirrhosis
Hypothyroidism (due to iron deposits in the thyroid)
Chrondocalcinosis / pseudogout (calcium deposits in joints) causing arthritis
Management of haemochromatosis
Venesection (weekly) - treatment
Also:
- Monitoring of serum ferritin
- Avoid alcohol
- Genetic counselling
- Monitoring and treatment of complications
