Bernard-Soulier syndrome
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Bernard-Soulier syndrome
Mod8/9_Heme/Onc
Mod8/9_Heme/Onc
Acute intermittent porphyria
Porphyria cutanea tarda
Autoimmune hemolytic anemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemolytic disease of the newborn
Hereditary spherocytosis
Paroxysmal nocturnal hemoglobinuria
Pyruvate kinase deficiency
Sickle cell disease (NORD)
Fanconi anemia
Folate (Vitamin B9) deficiency
Megaloblastic anemia
Vitamin B12 deficiency
Alpha-thalassemia
Anemia of chronic disease
Beta-thalassemia
Iron deficiency anemia
Lead poisoning
Sideroblastic anemia
Aplastic anemia
Diamond-Blackfan anemia
Immune thrombocytopenia
Leukemoid reaction
Polycythemia vera (NORD)
Antiphospholipid syndrome
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Hemophilia
Vitamin K deficiency
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Von Willebrand disease
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Thrombotic thrombocytopenic purpura
Langerhans cell histiocytosis
Mastocytosis (NORD)
Essential thrombocythemia (NORD)
Myelodysplastic syndromes
Myelofibrosis (NORD)
Acute leukemia
Chronic leukemia
Hodgkin lymphoma
Non-Hodgkin lymphoma
Monoclonal gammopathy of undetermined significance
Multiple myeloma
Waldenstrom macroglobulinemia
Asplenia
Ruptured spleen
Extrinsic hemolytic normocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Coagulation disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Platelet disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Leukemias: Pathology review
Lymphomas: Pathology review
Myeloproliferative disorders: Pathology review
Plasma cell disorders: Pathology review
Flashcards
Bernard-Soulier syndrome
0 of 10 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 2 complete
A 9-year-old boy is brought to the emergency department by his parents due to prolonged bleeding following a tooth extraction earlier in the day. Past medical history is noncontributory. Temperature is 37.5°C (99.5°F), pulse is 88/min, respirations are 14/min, and blood pressure is 112/62 mmHg. Physical exam shows gingival bleeding and petechiae. Laboratory testing is obtained, and the results are shown below.
*Reference Range: 2-7 minutes
Which of the following conditions is the patient at greatest risk of developing?
| Laboratory value | Result |
| Hematologic | |
| Hemoglobin | 12 g/dL |
| Hematocrit | 40% |
| Platelet count | 95,000/mm3 |
| Leukocyte count | 9,000/mm3 |
| Coagulation studies | |
| Prothrombin time (PT) | 12 seconds |
| Activated partial thromboplastin time (aPTT) | 29 seconds |
| Bleeding time* | 15 minutes |
Which of the following conditions is the patient at greatest risk of developing?
Key Takeaways
Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia, unusually giant platelets, and prolonged bleeding time. Patients with BSS typically have prolonged or severe bleeding after minor trauma or surgery and may also develop epistaxis, hematomas, and petechiae. The severity of the condition can vary from mild to life-threatening.