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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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