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Diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Haemochromatosis should be considered in patients presenting with the following;

  • Symptoms:
    • fatigue
    • right upper quadrant abdominal pain
    • arthralgias (typically of the second and third metacarpophalangeal joints)
    • chondrocalcinosis
    • impotence, decreased libido
    • symptoms of heart failure
    • diabetes
  • Physical findings
    • an enlarged liver, particularly in the presence of cirrhosis, extrahepatic manifestations of chronic liver disease
    • testicular atrophy
    • congestive heart failure
    • skin pigmentation
    • changes of porphyria cutanea tarda (PCT)
    • arthritis (1)

Initial investigations carried out in patients with HH are:

  • transferrin saturation
    • this is the proportion of the iron transport protein transferrin that is saturated with iron
    • the reference range for transferrin saturation is 15-45%
    • it is generally increased throughout the day and higher values can be seen in non fasting state
    • values can be high in:
      • people with iron loading anaemias
      • those taking iron tablets or multivitamins containing iron
      • patients with hepatitis
      • people who misuse alcohol.
  • serum ferritin
    • this measures body iron stores indirectly
    • values are increased in the following conditions:
      • iron overload
      • viral infections and other inflammatory conditions
      • metabolic syndrome
      • cancer
      • chronic liver disease e.g. - as a result of alcohol misuse
      • patients on dialysis
      • as a result of drug toxicity.
    • the upper reference value for men is about 300 µg/L while for women it is 200 µg/L
      • local reference values should be used (1,2,3)

Genetic testing should be carried out in patients with symptoms and serum iron parameters suggestive of haemochromatosis.

  • C282Y and H63D HFE mutations are commonly tested
    • in a symptomatic C282Y homozygote patient, screening of first degree relatives for the presence of the genotype may be indicated
    • negative in non HFE genetic mutations (2,3)

If the diagnosis of haemochromatosis is still uncertain (after blood analysis and genetic testing) consider:

  • magnetic resonance imaging (MRI)
    • provides a quantitative imaging technique for the detection of iron in the liver
  • liver biopsy
    • is an alternative if facilities for MRI is not available
    • allows for concentration of iron deposits to be measured (2,3)

Investigations for end organ damage:

  • liver function tests
  • imaging studies
  • fasting blood glucose
  • electrocardiography
  • echocardiography (3)

Reference:

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