Haemochromatosis (Primary Hereditary)

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

• pancreas → ‘bronze’ diabetes

• skin → bronze or leaden grey colour

• heart → restrictive cardiomyopathy

• pituitary → hypogonadism: impotence, etc.

• joints → arthralgia (esp. hands); chondrocalcinosis

It is usually primary (hereditary—autosomal recessive) but may be secondary (e.g. chronic haemolysis, ↑ dietary iron, multiple transfusions).

Symptoms (May be) extreme lethargy, polyuria and polydipsia, arthralgia, loss of libido

Signs (Look for) hepatomegaly, very tanned skin, cardiac arrhythmias

Diagnosis

• ↑ Serum transferrin saturation >50% and ↑ ferritin (>250 mcg/L) (key tests)

• Liver biopsy (if abnormal LFTs or hepatomegaly), FerriScan preferred

• HFE genetic studies—C282Y and/or H63D mutation

• Screen first-degree relatives (s. transferrin saturation and s. ferritin)

Management

• Refer for specialist care

• Weekly venesection 500 mL (250 mg iron) until serum iron levels normal and haemoglobin <110 g/L (may take at least 2 yrs), then every 3–4 mths to keep s. ferritin (<100 mcg/L), transferrin saturation and iron normal

• Normal diet

• Avoid or limit alcohol

• Life expectancy is normal if treated before cirrhosis or diabetes develops

• Routine screening not recommended