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