From the Research
Bernard-Soulier Syndrome (BSS) is characterized by thrombocytopenia, with platelet counts typically ranging from 20,000-100,000/μL, whereas Glanzmann Thrombasthenia (GT) generally maintains normal platelet counts. The difference in platelet count between BSS and GT is due to the distinct molecular mechanisms involved in each condition. In BSS, the defect in the GPIb-IX-V complex affects platelet production and survival, resulting in fewer but larger platelets [ 1 ]. In contrast, GT is characterized by normal platelet counts but dysfunctional platelets due to defects in the GPIIb/IIIa receptor, which is crucial for platelet aggregation [ 2 ].
Some key features of BSS include:
- Thrombocytopenia with giant platelets
- Defect in the GPIb-IX-V complex
- Platelet counts typically between 20,000-100,000/μL
- Bleeding disorders due to impaired platelet adhesion and activation
In contrast, GT is characterized by:
- Normal platelet counts
- Dysfunctional platelets due to defects in the GPIIb/IIIa receptor
- Impaired platelet aggregation
- Bleeding disorders due to inability to form stable clots
Treatment for both conditions focuses on managing bleeding episodes, often with platelet transfusions, but the approach may vary based on the specific defect and severity of symptoms [ 3 ]. The most recent and highest quality study recommends that patients with BSS or GT should be monitored for the development of platelet antibodies and alloimmunization, and treated with recombinant activated factor VII or platelet transfusions as needed [ 1 ]. Additionally, HLA and HPA-matched platelet transfusions may be considered to prevent alloimmunization and improve treatment outcomes [ 4 ].