Table 1.

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
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
Alfa 2-antiplasmin

IVIG, intravenous immunoglobulin.

RMMJ Rambam Maimonides Medical Journal Rambam Health Care Campus 2014 October; 5(4): e0039. ISSN: 2076-9172
Published online 2014 October 29. doi: 10.5041/RMMJ.10173