Pathology: Iron 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
Symptoms: Symptoms of cirrhosis, shortness of breath, peripheral oedema, polydipsia, polyuria, arthropathy
Signs: Signs of chronic liver disease, signs of congestive cardiac failure, signs of hypogonadism, “bronze” diabetes (skin pigmentation from iron deposition and increased melanin)
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
Complications: Hepatocellular carcinoma, cardiovascular risks from heart failure and diabetes
Prognosis: Degree of liver damage is decisive of prognosis
