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Gaucher's Disease P003

Document
Last amended 
15 February 2021
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
Brief description

This is a genetic disorder involving an error of metabolism that affects the recycling of cellular glycolipids.  This leads to tissue and organ damage from the accumulation of lipid-laden macrophages in the spleen, liver, bone marrow, bone, and other tissues/organs.

Confirming the diagnosis

This diagnosis is generally confirmed by a finding of reduced activity of the relevant enzyme (glucocerebrosidase) on blood testing.  Genetic testing will also be performed.  Histological, radiological and other laboratory investigations may also be useful in establishing the diagnosis.

The relevant medical specialist is a physician.

Additional diagnoses covered by SOP
  • Nil
Clinical onset

The condition 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%.

Clinical worsening

The only SOP factor is for inability to obtain 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.