Highlight text to suggest edits
| Disease found: | Bernard-Soulier Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Qualitative platelet disorder caused by one of at least three known mutations (GP1BA, GP1BB, or GP9) affecting Glycoprotein 1b-IX-V complex and resulting in macrothrombocytopenia [more info] |
| Signs and Symptoms: | Signs of primary hemostasis impairment including: frequent epistaxis, excessive bleeding from cuts and injuries, menorrhagia, purpura, petechiae [more info] |
| Diagnosis: | Macrothrombocytopenia with prolonged bleeding time (>20 min) and lack of ristocetin aggregation may be suggestive [more info]; confirm diagnosis with flow cytometry for GP1b |
| Treatment: | There is no maintenance therapy for Bernard-Soulier Syndrome. Selective use of platelet transfusions in anticipation of surgery or serious bleeds only to reduce risk of alloimmunization; use HLA-matched (preferred) or leukocyte-depleted platelet transfusions when possible. Antifibrinolytics (e.g. tranexamic acid) may be used to help stop bleeding after surgery or injury. [more info] Recent research suggests a positive impact of DDAVP in some but not all patients. Recombinant Factor VIIa is also being explored. [more info]. |
| Clinical Management: | Patients should be advised to avoid aspirin or any other drugs that impair platelet function and counseled on applying pressure to bleeds. [more info] |
| Referral: | Patients should be referred to a hematologist; five hematologists who specialize in Bernard-Soulier can be found here.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Currently, there are no trials recruiting. |