Hereditary Haemochromatosis

Pathology

Iron is deposited in a variety of organs including the liver, myocardium, pituitary gland, and pancreas, leading to deleterious effects such as abnormally elevated liver function tests, heart failure, pituitary failure, and the onset of diabetes mellitus.

Aetiology

Haemochromatosis is an autosomal recessive genetic disorder in which mutations of the HFE gene lead to elevated levels of iron absorption, leading to iron overload.

Symptoms

• Cirrhosis
• Shortness of breath
• Peripheral oedema
• Polydipsia (excessive thirst)
• Polyuria (excess urination)
• Arthropathy (joint pain)

Signs

• Chronic liver disease
• Congestive cardiac failure
• Hypogonadism
• Bronze diabetes (pigmentation of the skin due to iron deposition and increased levels of melanin)

Investigations

• Very high ferritin and increased transferrin saturation from a blood test
• Iron overload from a liver biopsy
• C282Y, H63D mutations of the HFE gene detected through gene analysis.

Treatment

Medically, regular venesection or iron chelation may be required.

Complications

Haemochromatosis may lead to the development of hepatocellular carcinoma, as well as increased cardiovascular risks associated with heart failure and diabetes.

Prognosis

The prognosis may vary considerably depending on the degree of liver damage present.