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Gaucher Disease P003
In this section
Current RMA Instruments
|Reasonable Hypothesis SOP||37 of 2023|
|Balance of Probabilities SOP||38 of 2023|
Changes from previous Instruments
ICD-10-AM Code: E75.2
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
- Gaucher's disease
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%.
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 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.