Haemochromatosis Flashcards
1
Q
What is haemochromatosis?
A
Is an iron storage disorder which results in excessive total body iron and iron in tissue. The haemochromatosis protein on chromosome 6 is mutated. Can be inherited by an autosomal recessive gene.
2
Q
Symptoms of haemochromatosis?
A
Main symptom =. skin goes bronze
Chronic tiredness
Joint pain
Pigmentation
Hair loss
Erectile dysfunction
Amenorrhea
3
Q
Diagnosis of haemochromatosis?
A
- Serrum ferritin level
- Transferrin saturation
- Genetic testing
- Liver biopsy
- CT abdomen scan
- MRI scan
4
Q
Complications of haemochromatosis?
A
Type 1 diabetes
liver cirrhosis
Cardiomyopathy
Hepatocellular carcinoma
Hypothyroidism
Chrondocalinosis
5
Q
Managment of haemochromatosis?
A
Venesection
Monitoring serum ferritin lvls
Avoid Alcohol
Genetic counselling
