Haemochromatosis

This is a condition in which the total body iron is increased to 20-60 g (normal 4 g). The excess iron is deposited in and damages several organs.

• liver ^ cirrhosis (one-third develop a hepatoma)

• skin ^ bronze or leaden grey colour

• heart ^ restrictive cardiomyopathy

• pituitary ^ hypogonadism: impotence etc.

• joints ^ arthralgia (esp. hands); chondrocalcinosis

It may be primary (hereditary—autosomal recessive) or secondary (e.g. chronic haemolysis, T dietary iron, multiple transfusions).

(maybe) extreme lethargy, polyuria & poly-dipsia, arthralgia, loss of libido (look for) hepatomegaly, very tanned skin, cardiac arrhythmias increased serum ferritin > 1000 •g/L or MRI—T iron deposition in liver liver biopsy (if LFT enzymes abnormal) ? nucleic acid amplification test

Screen first degree relatives (s. ferritin & iron binding capacity)

weekly venesection 500 mL (250 mg iron) until serum iron levels normal (may take at least 2 years) then every 3-4 months to keep s. ferritin (< 100 •g/L) and iron normal. Life expectancy is normal if treated before cirrhosis or diabetes develops. Normal diet

Symptoms: Signs:

Diagnosis: Management:

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