Haemochromatosis

Case history #1

A 57-year-old man is evaluated for progressive arthralgias. There is swelling and tenderness over the first, second, and third metacarpophalangeal joints of both hands. Findings on hand radiographs are suggestive of calcium pyrophosphate deposition, raising concern for haemochromatosis. Iron studies are obtained, showing a transferrin saturation of 88% and serum ferritin of nearly 2700 picomols/L (1200 nanograms/mL). HFE genotyping confirms that he is a C282Y homozygote.

Case history #2

A 50-year-old man with a history of obesity and heavy alcohol use presents with a 2-month history of weakness, jaundice, and ascites. He is found to be a C282Y homozygote after laboratory testing shows a transferrin saturation of 76% and ferritin of 11,000 picomols/L (5000 nanograms/mL). Imaging studies demonstrate a cirrhotic-appearing liver with an ill-defined mass in the right lobe and multiple pulmonary nodules suspicious for metastases. Hepatic iron overload with metastatic hepatocellular carcinoma is confirmed at autopsy.

Other presentations

Patients are often asymptomatic at diagnosis, having been identified by screening performed because of a relative with haemochromatosis or following routine blood tests showing raised serum ferritin or transferrin saturation.

Endocrinopathy (hypogonadism, amenorrhoea) and cardiac dysfunction are prominent symptoms in patients with type 2 haemochromatosis.