Key laboratory findings
| Parameter . | Description . |
|---|---|
| Diagnosis | β-Glucosidase enzyme level, GBA1 mutations |
| Biomarkers | |
| Nonspecific | Elevated ferritin, acid phosphatase, and ACE |
| Reduced HDL cholesterol | |
| Specific | Elevated glucosylsphingosine (Lyso-Gb1), CCL18, and chitotriosidase |
| Hematology | |
| Cytopenia | Thrombocytopenia, anemia (less common), leukopenia (rare) |
| Coagulation | Low factor XI, coagulation abnormalities (less common), platelet dysfunction (adhesion, aggregation), abnormal thrombin generation |
| Gammopathies | Polyclonal, monoclonal |
| Free light chain abnormalities, serum immunofixation for detection of monoclonal immunoglobulins | |
| Biochemistry | Abnormal liver function tests |
| Reduced vitamin B12, folic acid, vitamin D |
| Parameter . | Description . |
|---|---|
| Diagnosis | β-Glucosidase enzyme level, GBA1 mutations |
| Biomarkers | |
| Nonspecific | Elevated ferritin, acid phosphatase, and ACE |
| Reduced HDL cholesterol | |
| Specific | Elevated glucosylsphingosine (Lyso-Gb1), CCL18, and chitotriosidase |
| Hematology | |
| Cytopenia | Thrombocytopenia, anemia (less common), leukopenia (rare) |
| Coagulation | Low factor XI, coagulation abnormalities (less common), platelet dysfunction (adhesion, aggregation), abnormal thrombin generation |
| Gammopathies | Polyclonal, monoclonal |
| Free light chain abnormalities, serum immunofixation for detection of monoclonal immunoglobulins | |
| Biochemistry | Abnormal liver function tests |
| Reduced vitamin B12, folic acid, vitamin D |
ACE, angiotensin-converting enzyme; CCL18, C-C motif chemokine ligand 18; HDL, high-density lipoprotein.