Clinical features of Fe overload homozygous haemochromatosis

• Skin pigmentation

• Hepatic dysfunction

• Diabetes mellitus

• Gonadal dysfunction

• Other endocrine dysfunction

• Abdominal pain

• Cardiac dysfunction

• Chondrocalcinosis

Slate grey or bronze discolouration Hepatomegaly, chronic hepatitis, fibrosis, cirrhosis, hepatocellular carcinoma (20-30%) Retinopathy, nephropathy, neuropathy, vascular complications Hypogonadism, impotence Hypothyroidism, hypoparathyroidism, adrenal insufficiency

Unknown aetiology (25%) Cardiomyopathy, heart failure, dysrhythmias (10-15%) Arthropathy

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