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Pathology

ron is deposited in liver, myocardium, pituitary and pancreas resulting in abnormal liver function tests, heart failure, pituitary failure and diabetes mellitus

Aetiology

Autosomal recessive genetic condition where mutations in the HFE gene causes excess iron absorption resulting in iron overload

Signs

Signs of chronic liver disease, signs of congestive cardiac failure, signs of hypogonadism, “bronze” diabetes (skin pigmentation from iron deposition and increased melanin)

Symptoms

Symptoms of cirrhosis, shortness of breath, peripheral oedema, polydipsia, polyuria, arthropathy 

Investigations

Bloods: Very high ferritin and increased transferrin saturation 
Liver Biopsy: Iron overload 
HFE Gene Analysis: C282Y, H63D

Treatment

Medical: Regular venesection or iron chelation 

Prognosis

Degree of liver damage is decisive of prognosis 
Hepatocellular carcinoma, cardiovascular risks from heart failure and diabetes

Key Facts

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Key Images

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Key References

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