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: