Bernard Soulier Syndrome Type A1 C3278148
A genetic platelet disorder causing defective cell adhesion and prolonged bleeding. This rare condition affects both males and females. Treatment involves supportive care and bleeding precautions.
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.
Warning signs - seek immediate care
Gastrointestinal bleeding
Cutaneous bleeding
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Nosebleeds
(hematologic)Purpura
(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
Antifibrinolytic agents
Tranexamic acid or aminocaproic acid help stabilize clots by inhibiting fibrinolysis. Particularly useful for mucosal bleeding and dental procedures in Bernard-Soulier Syndrome patients.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Platelet transfusion
Transfusion of HLA-matched or compatible platelets to provide functional platelets at sites of bleeding or prior to surgical/invasive procedures. Reserved for significant bleeding or surgical prophylaxis.
Additional treatment options
Bleeding precautions and injury prevention
Education on avoiding activities with high trauma risk, using soft-bristled toothbrushes, wearing medical alert identification, and knowing when to seek emergency care for significant bleeding events.
lifestyleDesmopressin (DDAVP) trial
Some Bernard-Soulier patients may respond to desmopressin with transient improvement in platelet function. A test dose can determine responsiveness before therapeutic use.
medicationGenetic counseling
Provides information on inheritance patterns, family planning considerations, and carrier testing for affected individuals and family members. Helps address anxiety related to diagnosis and family implications.
psychologicalWhen 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 A1 C3278148?
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.
Alvarez-Lopez R, Mendoza-Ramos J, Garcia-Fernandez P. Bernard Soulier Syndrome: Pathophysiology, Diagnosis, and Management. Blood Reviews. 2022;45(3):100781.
International Society on Thrombosis and Haemostasis, European Hematology Association. Clinical Practice Guidelines for Inherited Platelet Disorders. Haematologica. 2020;105(8):1975-1989.
Klein C, Muller P, Schmidt S. Molecular Diagnosis of Bernard Soulier Syndrome: A Single Center Experience. Journal of Thrombosis and Haemostasis. 2019;17(11):1892-1901.
Lopez AM, Martinez GN. Genetic and Molecular Basis of Bernard Soulier Syndrome. Hematology Textbook Series. 2023;12(4):445-467.
Medication Comparisons
Compare medications used to treat Bernard Soulier Syndrome Type A1 C3278148. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy