From the Guidelines
Platelet Count in Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT)
Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) are two distinct bleeding disorders characterized by platelet dysfunction.
- In BSS, platelet count is typically reduced, ranging from 20,000 to 100,000/μL, due to impaired platelet production and survival 1.
- In contrast, GT is associated with a normal or slightly decreased platelet count, usually above 100,000/μL, with platelet function being the primary defect 1. The diagnosis of these conditions often involves a combination of clinical evaluation, laboratory tests such as platelet aggregation testing, and sometimes specific assays to identify the underlying defect in platelet function or structure. Management strategies may include supportive care, avoidance of medications that affect platelet function, and in some cases, the use of desmopressin (DDAVP), although its effectiveness can vary between BSS and GT 1. It's crucial to approach each case individually, considering the specific characteristics of the disorder and the patient's overall health status, to provide the most appropriate care.
From the Research
Platelet Count in Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT)
- BSS and GT are rare inherited disorders of platelet function, characterized by defects in platelet glycoproteins 2.
- Patients with BSS and GT often experience mucocutaneous bleeding, which can lead to anemia and transfusion requirements 2.
- The platelet count in BSS and GT patients can be affected by the severity of the bleeding disorder and the frequency of platelet transfusions 3, 4.
Effect of Platelet Transfusions on Platelet Count
- Platelet transfusions can temporarily increase the platelet count in BSS and GT patients, but the transfused platelets have a limited lifespan 4.
- The half-life of transfused platelets in BSS patients has been reported to be around 4.6 days, while in GT patients it is around 2.6 days 4.
- Repeated platelet transfusions can lead to the development of antiplatelet antibodies, which can render future platelet transfusions ineffective 3.
Management of Bleeding and Iron Deficiency Anemia
- Patients with BSS and GT often require treatment for iron deficiency anemia, which can be caused by frequent bleeding events 5.
- Recombinant activated factor VII (rFVIIa) infusions and platelet transfusions are commonly used to manage bleeding events in BSS and GT patients 5, 6.
- Routine monitoring for iron deficiency anemia and timely treatment can help improve bleeding management and reduce the burden of bleeding in BSS and GT patients 5.