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Gaucher's Disease P003

Last amended 
30 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
27 of 2015
Balance of Probabilities SOP
28 of 2015
Changes from Previous Instruments:

SOP Bulletin 179

ICD Coding:
  • ICD-9-CM Codes: 272.7
  • ICD-10-AM Codes: E75.2

This is a genetic disorder affecting normal sphingolipid metabolism in the body, leading to accumulation of glucocerebroside in the macrophages in the body resulting in tissue damage particularly in the spleen, liver, bone marrow and bone.

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

This diagnosis requires a specialist opinion from a specialist physician.

Are there sub-factors that require specific information? – No.

The only factor is for clinical worsening from inability to obtain appropriate clinical management.  It is difficult to ascertain a clinical worsening given the progressive nature of the disorder.  See notes below.

Additional diagnoses covered by SOP
  • Nil
Conditions not covered by SOP
  • Liver, neurological or blood pathology from other causes.
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes on appropriate clinical management

Natural progression of the disease varies with the phenotype.  Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.

Treatment of Gaucher’s disease (GD) is tailored to the individual patient because of the variability in the manifestations, severity, and progression of the disease.  GD is one of the few inherited metabolic disorders for which enzyme-replacement therapy (ERT) is available.  Additional therapies include substrate-reduction therapy and supportive care measures to manage associated conditions.

GD has a variety of presenting features that may occur at any age with varying severity. Manifestations include splenomegaly 85%, hepatomegaly 63%, thrombocytopenia 68%, anemia 34%, osteopenia 55%, bone pain 33%, pathologic fractures 7%, growth retardation 36%.

The clinical course and life expectancy of type 1 Gaucher disease is variable. Severity can vary among siblings, even identical twins.  The spectrum ranges from asymptomatic disease, discovered incidentally in older adults, to fulminant disease presenting in early childhood.  The disease is usually progressive, but at different rates.  The estimated average life expectancy at birth for a patient with GD1 was 68 years in a 2008 study based upon data from the Gaucher Registry, compared with 77 years in the standard United States population.