Glanzmann thrombasthenia: a multi-center study of demographics, clinical spectrum, and treatment efficacy

Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by quantitative or qualitative defects of platelet integrin GPIIb/IIIa (CD41 and CD61). This study intended to describe the demographics, clinical features, and treatment response of GT patients in several hematology centers in Egypt. A cross-sectional multi-center study involved 87 children (<18 years old) diagnosed with GT. Clinical data were recorded as bleeding manifestations, response to treatment modalities, and laboratory results. The study included eighty-seven children (61 females and 26 males) with a median age of 8 years. Sixty-one children (55.2%) were born to parents who were consanguineous. The median age at presentation was 3 years (birth-14 years). The most frequent initial presenting symptom was epistaxis (39.1%), followed by cutaneous bleeding (29.9%), gastrointestinal bleeding (23%), heavy menstrual bleeding (19.5%), bleeding per gum (10.3%), and post-circumcision bleeding (5.7%), while one patient initially presented with intracranial hemorrhage (1.1%). These also constituted common bleeding sites. Eighty children (92%) received treatment. Platelet transfusions were given to 65 patients, with a response rate of 73.8%, and recombinant factor VII concentrates were given to 71 patients, with a response rate of 90.1%. Type I GT represented most of our patients (79.3%), followed by type III (11.5%) and type II (9.2%). No significant correlation was found between CD41/CD61 expression and other parameters as the patient's age, bleeding frequency, and treatment response. There was no evident difference between the three forms of GT regarding clinical characteristics such as bleeding severity or response to treatment.What is known:center dot Glanzmann thrombasthenia is the most common inherited platelet function abnormality.center dot Treatment is based on general supportive measures, platelet transfusion and recombinant factor VIIa.What is new:center dot Glanzmann thrombasthenia is an underestimated disorder, with a significant delay in diagnosis.center dot Although it has three types, there is no significant variation in bleeding phenotype between them.