From the Guidelines
Bernard-Soulier Syndrome (BSS) is characterized by thrombocytopenia, typically presenting with low platelet counts, whereas Glanzmann Thrombasthenia (GT) generally maintains normal platelet counts. The key difference in platelet count between these two bleeding disorders is due to the distinct defects in platelet function. In BSS, the defect involves the GPIb-IX-V complex, crucial for platelet adhesion to von Willebrand factor, leading to macrothrombocytopenia with counts often ranging from 20,000-100,000/μL 1.
Comparison of BSS and GT
- BSS: characterized by thrombocytopenia, macrothrombocytopenia, and impaired platelet adhesion
- GT: characterized by normal platelet counts, impaired platelet aggregation due to deficiency or dysfunction of the GPIIb/IIIa receptor
In contrast, GT is characterized by a deficiency or dysfunction of the GPIIb/IIIa receptor (integrin αIIbβ3), essential for platelet aggregation, but patients with GT maintain normal platelet counts (150,000-450,000/μL) 1. Yearly complete blood counts are recommended to monitor platelets over time in patients with bleeding disorders, allowing for the differentiation between a normal decrease in platelet count and conditions requiring treatment 1.
Clinical Implications
- Monitoring platelet counts is crucial in managing patients with BSS and GT
- Treatment for both conditions focuses on managing bleeding episodes, potentially including platelet transfusions, recombinant factor VIIa, or desmopressin, depending on the severity of bleeding and the specific condition
- Patients with BSS are at a higher risk of bleeding due to their low platelet counts, whereas patients with GT are at risk due to impaired platelet aggregation.
From the Research
Comparison of Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT)
- Both BSS and GT are inherited platelet disorders that can lead to severe bleeding events, often requiring platelet transfusions or other treatments 2, 3, 4, 5.
- Patients with BSS and GT may experience frequent and severe bleeding events, which can result in secondary iron deficiency anemia (IDA) 3.
- The management of BSS and GT focuses on treating bleeding events and preventing complications, rather than prophylactic treatment 5.
- Platelet transfusions are often necessary for patients with BSS and GT, but they carry a risk of alloimmunization, which can render future transfusions ineffective 2, 4.
Impact on Platelet Count
- BSS is characterized by a deficiency of the GPIb-IX-V complex, which can lead to thrombocytopenia and large platelets 4, 6.
- GT is characterized by a deficiency of the GPIIb/IIIa complex, which can also lead to thrombocytopenia and impaired platelet function 4, 6.
- Patients with BSS and GT may require regular monitoring of their platelet count and bleeding events to manage their condition effectively 3, 5.
Treatment Options
- Treatment options for BSS and GT include platelet transfusions, recombinant activated factor VII (rFVIIa), and antifibrinolytic agents 2, 3, 4.
- Female hormones, such as oestrogen and progesterone, may be used to manage menorrhagia and pregnancy in women with BSS and GT 2, 5.
- Desmopressin may be used to increase plasma levels of von Willebrand factor and factor VIII, which can help to reduce bleeding events 2.