You are here
Hereditary haemochromatosis C018
Current RMA Instruments
|Reasonable Hypothesis SOP||23 of 2021|
|Balance of Probabilities SOP||24 of 2021|
Changes from previous Instruments
- ICD-9-CM Codes: 275.0
- ICD-10-AM Codes: E83.1
Hereditary haemochromatosis covers a group of genetic disorders of iron transport and metabolism which lead to an excessive accumulation of iron in the body, resulting in damage to organs and a variety of clinical manifestations.
Confirming the diagnosis
This diagnosis is typically made based on laboratory findings (high ferritin levels and HFE gene mutations). The SOP definition requires either clinical manifestations or documented iron overload to be present, rather than just the genetic abnormality.
The relevant medical specialist is a gasteroenterologist, hepatologist or haematologist.
Additional diagnoses covered by SOP
Conditions not covered by SOP
- Genetic abnormalities associated with haemochromatosis but without iron overload/ clinically apparent disease.
- Secondary (non-genetic) iron overload
# non-SOP condition
Although this is a genetic disorder, the condition typically does not come to attention until after age 40 in males and after menopause in females. This is because clinical manifestations from iron overload take time to become apparent. Symptoms tend to be non specific (fatigue, joint pain, symptoms of liver disease). The condition may be detected earlier in asymptomatic individuals, particularly if there is a family history and genetic testing has been undertaken, or because testing for iron levels has been undertaken. Clinical onset will be when there is first evidence of iron overload in organs or relevant symptoms or signs of iron-related dysfunction (and not at birth or when a relevant genetic abnormality is first identified). The SOP only has factors for clinical worsening.
Worsening would generally take the form of an increase in iron overload or organ damage above that which would occur in the normal course of the disease (and with appopriate treatment). The mainstay of treatment is removal of excess iron via phlebotomy (removal of blood).