Snapshot A 2-month-old female baby is seen in the emergency room with frequent nosebleeds and bruising. Her birth history is unremarkable, except for delayed separation of the umbilical cord. On physical exam, there is some blood in his nose. Lab results show normal PT and PTT but increased bleeding time. Her platelets come back at a normal range. Peripheral blood smear shows no clumping of platelets. Introduction Impaired platelet aggregation from genetic deficiency of GpIIb/IIIa Key lab finding normal platelet count ↑ bleeding time ETIOLOGY 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 Genetics autosomal recessive Associated conditions leukocyte adhesion deficiency commonly seen impaired wound healing delayed umbilical cord separation > 30 days recurrent skin and mucosal infections acquired Glanzmann thrombasthenia in those who received multiple platelet transfusions Presentation Symptoms from platelet abnormalities mucocutaneous microhemorrhages bleeding from mucous membranes epistaxis petechiae/purpura STUDIES ↑ bleeding time Normal PT/PTT Complete blood count normal platelet count normal platelet morphology Peripheral blood smear no platelet clumping seen 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 defective/deficient ADAMTS13) Treatment Prevention Avoid anti-platlet agents (aspirin and NSAIDs) Platelet transfusions with HLA-matched and leukocyte depleted blood products No clear evidence but options are recombinant factor VIIa hematopoietic stem cell transplant Supportive care iron and folate supplementation Complications Uncontrolled bleeding Prognosis Good with supportive care Generally, bleeding decreases with age