Natural history & quality of life in Glanzmann thrombasthenia & Bernard Soulier syndrome: An observational study from India.

Abstract

Background & objectives Inherited platelet function disorders (IPFDs) are not well studied as compared to haemophilia and other bleeding disorders. Present study is aimed to understand the natural history and quality-of-life (QoL) in the two well studied IPFDs i.e. Glanzmann thrombasthenia (GT) and Bernard Soulier syndrome (BSS). Methods This is an ambispective, observational study. Demographics, medical data, mortality due to bleeding, comorbidities and treatment products were recorded. Health related quality of life (HRQoL) was captured using EuroQol five-dimensional questionnaire (EQ-5D), 36-Item short form health survey (SF-36) and functional assessment of chronic illness therapy (FACIT) scales. The severity of bleeding was assessed by annual bleed rate (ABR) and International Society on Thrombosis and Haemostasis - Bleeding assessment tool (ISTH-BAT) score. Results The median (interquartile range; IQR) age of 76 study participants (64 GT, 12 BSS) was 14 yr (9-19 yr). Epistaxis, ecchymosis, gingival bleed, gastrointestinal bleed, and soft tissue bleed were the commonest clinical manifestations. Menorrhagia was seen in all females in the reproductive age group. There was a statistically significant difference in the mean ISTH-BAT scores between GT and BSS (P=0.016). Platelet transfusion was the main mode of treatment; none of the patients in the present series were on activated recombinant factor VII (rFVIIa) therapy. Between 2000 and 2025, 13 deaths were reported (due to bleeding) mainly due to inaccessibility to treatment or treatment products. The relationship between quality of life (QoL) scores and ISTH-BAT score was weak. Interpretation & conclusions The need for optimal treatment strategies to improve QoL and providing timely access to specific treatment products to prevent mortality is underscored.