Hereditary Haemochromatosis

Hereditary Haemochromatosis

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 

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