Overview
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder characterized by impaired platelet adhesion due to deficiency or dysfunction of glycoprotein Ib-IX-V complex, leading to severe bleeding tendencies 1.Diagnosis
Clinical Presentation: Recurrent mucosal bleeding, easy bruising, and prolonged bleeding after trauma or surgery 1.
Laboratory Findings:
- Platelet Function Tests: Abnormal bleeding time, prolonged template bleeding time, and variable results on PFA-100.
- Flow Cytometry: Deficiency or absence of glycoprotein Ibα on platelets.
- Genetic Testing: Identification of mutations in the ITGB2 or ITGB3 genes 1.Management
First-Line Treatments:
- Fresh Frozen Plasma (FFP): To provide von Willebrand factor and other clotting factors 1.
- Cryoprecipitate: For fibrinogen replacement 1.
Adjunctive Treatments:
- Desmopressin (DDAVP): May be ineffective due to lack of VWF effect 1.
- Transfusion: Platelet transfusions to increase platelet count and function 1.
- Antifibrinolytic Agents: Tranexamic acid to stabilize clot formation 1.Special Populations
Pregnancy:
- Delivery Considerations: Requires meticulous planning with adequate blood product availability 1.
- Outcome: Normal delivery possible with intensive transfusion support; postpartum hemorrhage may necessitate surgical intervention like hysterectomy 1.Key Recommendations
Close Monitoring and Preparedness: Ensure comprehensive blood product availability and multidisciplinary team involvement during pregnancy and delivery in BSS patients (Evidence: Expert opinion) 1.
Intensive Transfusion Support: Utilize FFP and platelet transfusions pre- and post-delivery to manage bleeding risks (Evidence: Weak) 1.
Consider Surgical Intervention: Be prepared for potential surgical interventions such as hysterectomy to control severe postpartum hemorrhage (Evidence: Expert opinion) 1.References
1 Michalas S, Malamitsi-Puchner A, Tsevrenis H. Pregnancy and delivery in Bernard-Soulier syndrome. Acta obstetricia et gynecologica Scandinavica 1984. link