Hemostatic Abnormalities in Gaucher Disease: Evaluation and Therapeutic Approach.
Hemostatic Abnormalities in Gaucher Disease: Evaluation and Therapeutic Approach.
| Diagnostic Methods | Therapeutic Approach | |
|---|---|---|
| Thrombocytopenia | Complete blood count | Enzyme replacement therapy (ERT) |
| Platelet < 100,000/mm3 | Consider increasing enzyme dose | |
| Exclude “pseudo-thrombocytopenia” [Platelet aggregates] | Follow ITP guidelines in cases of immune thrombocytopenia | |
| Bone marrow aspiration and biopsy in patients with persistent thrombocytopenia | Consider IVIG, rituximab, and thrombopoietin receptor analogues | |
| Splenectomy only in life-threatening thrombocytopenia | ||
| Thrombocytopathy | Platelet aggregation tests with: adenosine-diphosphate, epinephrine, collagen, ristocetin | Evaluate prior to orthopedic surgery ERT |
| Platelet adhesion tests | ||
| Clotting factors | Prothrombin time | ERT |
| Activated partial thromboplastin time | Coagulation factor concentrates for postoperative hemorrhage | |
| Mixing tests with normal plasma | ||
| Coagulation factor level | ||
| von Willebrand factor level | ||
| Fibrinolysis | D-dimer | ERT to decrease coagulation activation |
| Plasminogen | ||
| Alfa 2-antiplasmin |