You are here

Haemochromatosis C018

Document
Last amended 
26 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
21 of 2012
Balance of Probabilities SOP
22 of 2012
Changes from Previous Instruments:

SOP Bulletin 157

ICD Coding:
  • ICD-9-CM Codes: 275.0
  • ICD-10-AM Codes: E83.1

This is a disease where there is an excessive accumulation of iron in the body, leading to inflammation and destruction of the body’s tissues, due to a genetic abnormality (see further comments below).

Is specific diagnostic evidence required to apply the SOP?Yes.

This diagnosis requires blood tests which are positive for the haemochromatosis gene.

Are there sub-factors that require specific information? – No.
Additional diagnoses covered by SOP
  • Nil
Conditions not covered by SOP
  • Haemosiderosis
  • Secondary iron overload
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then:

  1. seek medical officer advice about further investigation, or;
  2. re-encode the condition, if appropriate.

The following investigations may be useful in establishing the diagnosis.

  • A report from a gastroenterologist
Comments

In the past haemochromatosis was diagnosed after liver biopsy showed cirrhotic changes associated with iron tissue overload. This was associated with skin bronzing and diabetes mellitus, both also due to tissue iron overload.

Currently, the potential for the development of the disease of haemochromatosis is usually identified prior to disease manifestation. The investigation normally begins with the identification of excessive iron blood levels discovered on routine blood tests or blood tests performed for some other investigative purpose. Subsequent genetic tests for haemochromatosis gene, identify the patient as a person with potential to develop haemochromatosis.

The SOP has factors for worsening of the iron overload caused tissue damage. The underlying genetic abnormality cannot be made worse. Assessment of clinical worsening should be restricted to the iron overload caused tissue damage, since ethanol excess and hepatitis C can also cause liver cell parenchymal damage in the absence of iron overload, using different pathophysiological mechanisms.