Overview Snapshot A 3-week-old boy is brought to the pediatrician to undergo a circumcision. Despite the procedure being uncomplicated, the bleeding has not subsided after a few hours. Complete blood count is significant for a platelet count of 85,000/mm3. Peripheral blood smear is shown. Platelet aggregation studies show no response to ristocetin. This was not corrected with the addition of normal plasma. With the addition of ADP, normal aggregation was observed. Introduction Autosomal recessive platelet disorder deficiency of GPIb receptor for vWF → impaired platelet adhesion Epidemiology very rare affects males and females equally Presentation Symptoms epixtasis mucosal bleeding easy bruising menorrhagia Evaluation Complete blood cell count thrombocytopenia Peripheral smear giant platelets Bleeding time usually prolonged PT and PTT normal Platelet aggregation studies ristocetin - no aggregation no correction with the addition of normal plasma it is corrected in von Willebrand disease adenosine diphosphate (ADP) - aggregation epinephrine - aggregation collagen - aggregation Differential Glanzmann thrombasthenia Idiopathic thrombocytopenic purpura (ITP) von Willebrand disease Treatment Supportive avoid anti-platelet medication Surgery of life-threatening bleed platelet transfusion Prognosis, Prevention, and Complications Varying bleeding severity throughout life