Patient Care

The National Gaucher Disease Treatment Center brings together multidisciplinary expertise to evaluate:

  • Type 1, non-neuronopathic Gaucher disease
    • Osteoporosis
    • Avascular osteonecrosis
    • Multiple myeloma and other cancers
    • Parkinson's disease
    • Advanced liver disease
    • Pulmonary hypertension
  • Type 2, acute neuronopathic Gaucher disease
  • Type 3, chronic neuronopathic Gaucher disease

Comprehensive evaluation of Gaucher disease aims to assess the burden of disease and extent of injury in all organs of the body:

  • Analysis of Gaucher disease, GBA1 to identify mutations and whole genome analysis when indicated
  • Enzyme analysis, blood counts inflammatory markers including cytokine profiling
  • Bone assessments: MRI, DXA bone density, plain radiology
  • Liver Assessments: MRI, LFTs, gallstones, cancer screening
  • Spleen Assessment: MRI
  • Lungs: Imaging and Doppler echocardiogram
  • Biomarkers: chitotriosidase, CCL18,  immunoglobulins, SPEP, HDL, ferritin and iron panel, lipids that accumulate in Gaucher disease (GL1 and Lyso GL1) and immune profiling
  • Assessment of need for Enzyme replacement therapies
  • Assessment of need for orally administered small molecule therapy
  • Genetic counseling