Bernard–Soulier syndrome
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan. BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.
| Bernard-Soulier syndrome | |
|---|---|
| Other names | Hemorrhagiparous thrombocytic dystrophy |
| Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance (rarely autosomal dominant). | |
| Specialty | Hematology |
| Causes | Mutations in GP1BA, GP1BB and GP9 |
| Diagnostic method | Flow cytometry analysis |
| Treatment | Platelet transfusion |
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