Disease Information for Bernard-Soulier Syndrome

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Clinical Manifestations
Signs & Symptoms
Bleeding/excessive from mild trauma
Petechiae/Petechial rash
Excessive/easy bruising tendency
Bleeding gums
Flooding menstrual bleeding
Demographics & Risk Factors
Family History
Family history/Bleeding disorders
Sex & Age Groups
Population/Child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Bleeding time prolonged/platelet count normal (Lab)
Clotting factor assay/abnormal (Lab)
Clotting Mixing studies/Inhibitors abnormal (Lab)
Giant abnormal platelets/smear (Lab)
PTT increased normal PT (Lab)
Ristocetin/platelet aggregation abnormal (Lab)
Thrombin Clotting Time increased
VonWillebrand antigen/activity abnormal (Lab)
Abnormal Lab Findings - Decreased
Platelet survival (Lab)
Abnormal Lab Findings - Increased
Addition Clotting Correction Fails (Lab)
Bleeding time, Duke (Lab)
Platelet Closure Time
Diagnostic Test Results
Pathology
Bone Marrow/Giant metamyelocytes
Associated Diseases & Rule outs
Rule Outs
Von Willebrands disease
Associated Disease & Complications
Bernard-Soulier syndrome
Bleeding complications/Surgery
Bleeding diathesis/hemorrhagic diathesis
Bleeding Tendency
Epistaxis/nosebleed
Menorrhagia
Platelet manifestation/defect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Platelet disorder (ex)
Pathophysiology
Pathophysiology/Heterozygous/recessive silent/clinically
Pathophysiology/Absent Platelet VWf Receptor
Pathophysiology/Glycoprotein Complex GP1b/IX defect
Pathophysiology/Platelet glycoprotein 1b deficiency/polymorphism
Pathophysiology/Platelet VonWillebrand Receptor Absent
Pathophysiology/Platelets unable to anchor to endothelium
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Disease with three subtypes
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
Synonyms
Synonym
Synonym/BSS (Bernard-Soulier), Synonym/Giant platelet syndrome, Synonym/Hemorrhagic dystrophic thrombocytopenia, Synonym/Hemorrhagiparous Thrombocytic Dystrophy, Synonym/Macrothrombocytopenia familial/Bernard-Soulier, Synonym/Von Willebrand factor platelet receptor defect
Treatment
Other Treatments
TX/Platelet transfusion
Definition
Be the first to add a definition for Bernard-Soulier Syndrome
External Links Related to Bernard-Soulier Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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