DIAGNOSIS
Diagnosis is usually made by direct visualization of large platelets and the presence of megakaryocytes (precursor cells of platelets) under the microscope on peripheral blood smears or routine complete blood count. Automated counters which are employed in laboratory medicine may mistake these platelets as red blood cells giving you a false negative result.
Bleeding parameters are prolonged among patients with BSD.
The utilization of flow cytometry machines can identify the defects in the glycoprotein component of the platelets.
TREATMENT
Treatment of Bernard Soulier Disease is mainly symptomatic and supportive.
- Identify and withhold any medications that can potentially cause bleeding (e.g., Novel oral anticoagulants, warfarin, gingko biloba, aspirin to name a few)
- In cases of bleeding perioperatively, transfusion of platelet-rich plasma or platelet concentrate can stop the bleeding
- Desmopressin Acetate is a drug that is used to prevent nocturnal diuresis simulating the effects of vasopressin, which conserves the body’s water by inhibiting urination.
- Individuals with this condition may need to avoid extreme sports; engaging in such can only predispose the person to multiple hematomas and bleeding, especially from minor cut and bruises.