Epidemiological and clinical characteristics of children and young adults with Glanzmann's thrombasthenia in upper Egypt: a multicenter cross-sectional study.

Abstract

Background: Glanzmann's thrombasthenia (GT) is an inherited rare bleeding disorder characterized by a deficiency or functional defect in the platelet αIIbβ3 integrin. This impairs normal platelet aggregation and leads to prolonged and spontaneous mucocutaneous bleeds.

Objectives: To report disease characteristics of a GT cohort from five tertiary hospitals in Upper Egypt.

Materials and methods: We conducted a retrospective cross-sectional observational study, relying on patients' medical records and interview surveys to collect information from patients diagnosed with congenital GT between October 2023 and April 2024.

Results: We recruited 131 people with GT (PwGT) of different ages, mainly children and adolescents. 73.3% of the study cohort had type I GT, 23.7% had type II GT, and 3% had type III GT. Consanguinity and family history were prevalent in our cohort, with an expected prevalence of more than one per 200,000 in our region. The median value of ADP aggregation was 8%. In type I GT, the median levels of CD41 and CD61 were 0.3%. In contrast, type II GT had median levels of 12% for CD41 and 17% for CD61. The most frequent manifestations were epistaxis (77.1%), subcutaneous bleeds (40.5%), menorrhagia (22.1%), and mucosal bleeds (18.3%). 72.5% of PwGT used rFVIIa and 69.5% used platelet transfusions to treat acute and surgical bleeds, while only 6.9% used tranexamic acid as monotherapy.

Conclusion: Estimating the actual burden of GT in Egypt requires accurate diagnoses, as well as systematic and standardized data collection. The rooted consanguinity pattern in Upper Egypt contributes to a higher prevalence of GT above the country's average.