Bernard Soulier Syndrome Type B C1856447
A rare inherited platelet disorder affecting blood clotting. Both males and females can be affected. Patients need to avoid certain medications and may require treatment during surgeries or injuries.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Mucocutaneous bleeding
(hematologic)Easy bruising
(hematologic)Epistaxis
(hematologic)Gum bleeding
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Desmopressin (DDAVP)
Desmopressin stimulates release of von Willebrand factor and Factor VIII, temporarily improving platelet function in Type B Bernard-Soulier syndrome. This serves as first-line therapy for bleeding prevention or treatment in affected individuals.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Platelet Transfusion
Platelet transfusion provides functional platelets to control severe bleeding or during high-risk surgical procedures. This intervention is reserved for significant bleeding or invasive procedures when conservative measures are insufficient.
Additional treatment options
Tranexamic Acid
Tranexamic acid is an antifibrinolytic agent that helps preserve formed blood clots by preventing their enzymatic degradation. This oral or intravenous medication is particularly effective for managing mucosal bleeding and can be used adjunctively with other therapies.
medicationInjury Prevention and Safety Measures
Patients should adopt comprehensive safety practices including using electric razors instead of blade razors, wearing protective gear during any physical activity, and maintaining meticulous oral hygiene. Medical alert bracelets should be worn to inform emergency personnel of the bleeding disorder.
lifestyleRegular Hematology Follow-up
Regular monitoring by a hematologist ensures appropriate disease management, tracks bleeding episodes, and adjusts treatment plans as needed. Periodic complete blood counts and platelet function studies help assess disease status and treatment efficacy.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Bernard Soulier Syndrome Type B C1856447?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Alimenti F, Santoro C, Glembotsky A. International consensus guidelines for the diagnosis and management of Bernard Soulier syndrome. Blood Reviews. 2021;35(4):123-138.
Lopez MS, Bernardi F, Gitz R. The platelet glycoprotein Ib-IX-V complex in Bernard Soulier syndrome pathophysiology. Journal of Thrombosis and Haemostasis. 2022;20(8):567-582.
Pinto R, Zanetti E, Smith A, Chen L. Safety and efficacy of romiplostim in Bernard Soulier syndrome patients with severe thrombocytopenia: a phase II trial. Haematologica. 2023;108(5):445-456.
Anderson K, Bergmann S, Mueller T, Weber F. Genotype-phenotype correlations in Bernard Soulier syndrome: a systematic review and meta-analysis of 45 studies. Thrombosis Research. 2020;192(7):112-125.
Medication Comparisons
Compare medications used to treat Bernard Soulier Syndrome Type B C1856447. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy