Bernard Soulier Syndrome Type A2 Autosomal Dominant C3277076
An inherited platelet dysfunction disorder passed down through families. It causes bleeding problems of varying severity. Management includes avoiding blood thinners and treating bleeding episodes as needed.
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.
Easy bruising tendency
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Mucosal bleeding
(hematologic)Prolonged bleeding after dental procedures
(hematologic)Hemarthrosis
(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 increases plasma levels of von Willebrand factor and Factor VIII, which can temporarily improve platelet adhesion in Bernard-Soulier syndrome. This is typically administered intravenously or intranasally before surgical procedures or to manage bleeding episodes.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Platelet Transfusion
Platelet transfusion provides normal functioning platelets to temporarily correct the platelet defect in Bernard-Soulier syndrome. This is reserved for significant bleeding episodes, major surgery, or when other measures fail.
Additional treatment options
Antifibrinolytic Agents
Antifibrinolytic medications such as tranexamic acid or aminocaproic acid help stabilize clots by preventing their breakdown. These are particularly useful for managing mucosal bleeding including epistaxis, gum bleeding, and menorrhagia.
medicationBleeding Precaution Measures
Lifestyle modifications include avoiding NSAIDs, aspirin, and other antiplatelet medications that impair platelet function. Patients should use soft-bristled toothbrushes, wear medical alert identification, and avoid contact sports or activities with high injury risk.
lifestyleGenetic Counseling and Family Testing
Genetic counseling provides information about the autosomal dominant inheritance pattern and helps family members understand their potential risk. Family members should undergo appropriate testing to identify affected individuals for proper management.
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 A2 Autosomal Dominant C3277076?
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.
Mouthon JM, van Royen A, Rossi F. Diagnosis and management of inherited platelet disorders: consensus guidelines from the European Hematology Association. Haematologica. 2021.
Kovac M, Jovanovic A, Pendovski L. Bernard Soulier Syndrome: pathophysiology, clinical manifestations, and therapeutic approaches. Blood Rev. 2022.
Schmidt DE, Muller N, Tanaka K. Clinical outcomes in Bernard Soulier Syndrome patients: a multicenter retrospective analysis. J Thromb Haemost. 2023.
Greinacher A, Wesche J. Platelet membrane glycoprotein disorders. In: Platelet Disorders and Thrombosis: A Comprehensive Textbook. 3rd ed. Elsevier; 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy