Snapshot A 1-month-old infant is brought to his pediatrician. He has been having multiple mini nosebleeds. His parents have also noticed some bleeding along his gums. On physical exam, his extremities are spotted with petechiae and purpura. Suspicious of a congenital bleeding disorder, the pediatrician orders labs. A complete blood count comes back with normal platelet count but increased bleeding time. Introduction Impaired platelet aggregation from genetic deficiency of GpIIb/IIIa Genetics autosomal recessive Pathogenesis ↓ GpIIb/IIIa (a platelet integrin) recall that GpIIb/IIIa is a receptor on platelets fibrinogen interacts with GpIIb/IIIa between two platelets, helping platelet aggregation recall abciximab inhibits this receptor defect in platelet plug formation Key lab finding normal platelet count ↑ bleeding time Presentation Symptoms from platelet abnormalities mucocutaneous microhemorrhages bleeding from mucous membranes epistaxis petechiae/purpura Evaluation ↑ Bleeding time normal PT/PTT Complete blood count normal platelet count normal platelet morphology Differential Diagnosis Bernard-Soulier (↓ platelet count, ↑ bleeding time, and ↓ GpIb) ITP (↓ platelet count, ↑ bleeding time, and anti-GpIIb/IIIa antibodies) TTP (↓ platelet count, ↑ bleeding time, and defet/deficient ADAMTS 13) Treatment Platelet transfusions with HLA-matched and leukocyte depleted blood products Supportive care iron and folate supplementation Prognosis, Prevention, and Complications Prognosis good with supportive care Complications uncontrolled bleeding
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.HE.13.17) A 4-year-old male is evaluated for frequent epistaxis and mucous membrane bleeding. Physical examination shows diffuse petechiae on the patient’s distal extremities. Peripheral blood smear shows an absence of platelet clumping. An ELISA binding assay reveals that platelet surfaces are deficient in GIIb/IIIa receptors. Serum platelet count is normal. Which of the following is the most likely diagnosis? Tested Concept QID: 101327 Type & Select Correct Answer 1 Hemophilia A 6% (12/211) 2 Thrombotic thrombocytopenic purpura 4% (8/211) 3 Bernard-Soulier disease 9% (20/211) 4 Idiopathic thrombocytopenic purpura 6% (12/211) 5 Glanzmann’s thrombasthenia 75% (158/211) M 2 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review tested concept