PB1296 - Clinical presentation and Management of Children with Glanzmann Thrombasthenia : Experience from a Tertiary Care Centre in Saudi Arabia

Background: Glanzmann Thrombasthenia (GT), is a rare inherited disorder of haemostasis characterized by lack of platelet aggregation. Children are generally diagnosed early-on in life due to spontaneous and unexplained mucocutaneous bleeding.

Aims: To describe clinical presentation and management of children with GT

Methods: A retrospective chart review of children diagnosed with GT from January 2002 and December 2022 at Pediatric Non-Malignant Blood Disorders section at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Results: TTotal of 60 children with GT included. Median age at diagnosis of 1.05 (1 month - 8.00) years with 55% (33) male and 45% (27) female. Parental consanguinity observed in 78% (47) and positive family history of bleeding in 68% (41). Majority, 44% (26) referred from Northern region of the Kingdom. Most common presenting symptoms were ecchymosis in 78% (47), followed by epistaxis in 67% (40), mucocutaneous bleeding in 63% (38), nose bleeding in 42% (25). Among male patient’s post-circumcision bleeding observed in 24% (8). Management of GT included tranexamic acid in 98% (59), factor VII in 88% (53), thrombin topical in 78% (47) and transfusion was required in 70% (42) most requiring packed RBC in 85% and 15%, platelet transfusion. Menorrhagia emerged as unique complication among adolescent females requiring hormone replacement therapy in 33% (9). Post-surgical and post-trauma bleeding were major causes of hospitalization in 87% (52) patients. At median follow-up of 11.70 years, latest laboratory values indicate a median haemoglobin of 11.4 g/dL and ferritin level of 22.0 ug/L. One-patient died due to intracranial haemorrhage.

Conclusion(s): In our experience GT is more common in Saudi Arabia particularly in the Northern region due to high prevalence of consanguinity. We propose a regional GT registry that could enable better understanding of this rare disease and assist in standardization of treatment with better prevention and control of the disease.