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Haemochromatosis

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Overview

Haemochromatosis is an autosomal recessive condition characterised by a deficiency of hepcidin, a hormone that ordinarily reduces iron absorption and keeps iron trapped in macrophages and liver cells. The lack of this hormone’s effect leads to excess iron accumulation in the body and organ damage.

Epidemiology

  • Haemochromatosis is more common in people with white ancestry, with a prevalence of 1 in 300 
  • Haemochromatosis tends to present between 40-60 years of age
  • Men tend to present earlier. This may be due to women being protected from iron overload due to menstruation

Presentation

Early features may be vague and non-specific, including fatigue and joint pain, usually in the hands. Other features may be:

  • Skin pigmentation – often described as bronzing, but can be grey or brown
  • Erectile dysfunction and loss of libido due to hypogonadism
  • Diabetes mellitus due to iron deposition in the pancreas
  • Features of liver disease and cirrhosis
  • Congestive cardiac failure due to dilated cardiomyopathy

Investigations

Overview

  • FBC:
    • Can rule out leukocytosis suggesting inflammation which increases ferritin
  • Iron studies:
    • Transferrin saturation is elevated: iron has ‘taken up’ a lot of binding spots
    • Total iron-binding capacity (TIBC) is low: fewer spots are available for iron to bind
    • Serum ferritin is elevated, however, this is an acute phase reactant and may be elevated in other situations such as infection and inflammation
  • LFTs:
    • AST and ALT are usually elevated up to 2 times as high as the upper limit
  • Liver biopsy:
    • The diagnostic test
  • Genetic testing

Other tests

Other tests may be performed depending on symptoms present such as:

  • Fasting blood glucose:
    • For diabetes
  • ECG:
    • For arrhythmia
  • Echocardiography:
    • For cardiomyopathy
  • FSH, LH, and testosterone:
    • For hypogonadism

Management

  • 1st-line: regular venesection (around 1-2 times a week)
    • Transferrin saturation is used to monitor treatment response
  • 2nd-line: desferrioxamine:
    • This is an iron-chelating agent
  • Liver transplantation may be necessary if end-stage liver disease develops

Complications

Prognosis

  • Early diagnosis and treatment are associated with a near-normal life expectancy

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