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Diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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