Natural history and quality of life in patients with Glanzmann thrombasthenia and Bernard Soulier syndrome: an observational study from India
Natural history and quality of life in patients with Glanzmann thrombasthenia and Bernard Soulier syndrome: an observational study from India
Background and 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 mean and median ages of 76 patients (64 GT, 12 BSS) were 18 and 14 years respectively. Epistaxis, Ecchymosis, gingival bleed, gastrointestinal (GI) 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, there were 13 deaths reported due to bleeding mainly due to inaccessibility to treatment or treatment products. However, the relationship between quality of life (QoL) scores and ISTH-BAT score was weak.
Interpretation and conclusion: the need for optimal treatment strategies to improve QoL and providing timely access to specific treatment products to prevent mortality is underscored.
Bernard Soulier syndrome, Glanzmann Thrombasthenia, Inherited platelet function disorders, Natural history, Quality of life
Kharat, Shruti Vilas
a36e49be-c40f-49bb-aec0-00809598f896
Kshirsagar, Shrinath
11ed53ac-0f13-49eb-9bc3-d5b50d7deaa6
Patil, Kranti
42f3207b-fd7a-42cf-b378-0e2dbfa69195
Saini, Gurpreet Kaur
5b977594-85f4-4644-8564-4612407494ad
Jivani, Fiza Rafiq
67b511b6-8ad7-451f-8386-24e7e3e67ce3
Kamble, Aniket
1c2cc014-d5f9-4d4c-b650-24195c526d50
Rangarajan, Savita
9a5e4c7e-55ba-4a3a-b5f6-f1e269d927c3
Joshi, Samir Vinayak
a5c7031a-ba02-44db-b302-041b109fc75d
Shetty, Shrimati
76320a03-908c-4872-9b09-e66865dc5bb8
Kharat, Shruti Vilas
a36e49be-c40f-49bb-aec0-00809598f896
Kshirsagar, Shrinath
11ed53ac-0f13-49eb-9bc3-d5b50d7deaa6
Patil, Kranti
42f3207b-fd7a-42cf-b378-0e2dbfa69195
Saini, Gurpreet Kaur
5b977594-85f4-4644-8564-4612407494ad
Jivani, Fiza Rafiq
67b511b6-8ad7-451f-8386-24e7e3e67ce3
Kamble, Aniket
1c2cc014-d5f9-4d4c-b650-24195c526d50
Rangarajan, Savita
9a5e4c7e-55ba-4a3a-b5f6-f1e269d927c3
Joshi, Samir Vinayak
a5c7031a-ba02-44db-b302-041b109fc75d
Shetty, Shrimati
76320a03-908c-4872-9b09-e66865dc5bb8
Kharat, Shruti Vilas, Kshirsagar, Shrinath, Patil, Kranti, Saini, Gurpreet Kaur, Jivani, Fiza Rafiq, Kamble, Aniket, Rangarajan, Savita, Joshi, Samir Vinayak and Shetty, Shrimati
(2025)
Natural history and quality of life in patients with Glanzmann thrombasthenia and Bernard Soulier syndrome: an observational study from India.
Indian Journal of Medical Research.
Abstract
Background and 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 mean and median ages of 76 patients (64 GT, 12 BSS) were 18 and 14 years respectively. Epistaxis, Ecchymosis, gingival bleed, gastrointestinal (GI) 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, there were 13 deaths reported due to bleeding mainly due to inaccessibility to treatment or treatment products. However, the relationship between quality of life (QoL) scores and ISTH-BAT score was weak.
Interpretation and conclusion: the need for optimal treatment strategies to improve QoL and providing timely access to specific treatment products to prevent mortality is underscored.
Text
Natural history and quality of life in patients with Glanzmann thrombasthenia and Bernard Soulier syndrome: an observational study from India
- Accepted Manuscript
More information
Accepted/In Press date: 10 July 2025
e-pub ahead of print date: 13 October 2025
Keywords:
Bernard Soulier syndrome, Glanzmann Thrombasthenia, Inherited platelet function disorders, Natural history, Quality of life
Identifiers
Local EPrints ID: 504563
URI: http://eprints.soton.ac.uk/id/eprint/504563
ISSN: 0971-5916
PURE UUID: 405b159d-3c19-410e-8956-6cb71228a951
Catalogue record
Date deposited: 15 Sep 2025 16:44
Last modified: 15 Oct 2025 04:01
Export record
Contributors
Author:
Shruti Vilas Kharat
Author:
Shrinath Kshirsagar
Author:
Kranti Patil
Author:
Gurpreet Kaur Saini
Author:
Fiza Rafiq Jivani
Author:
Aniket Kamble
Author:
Samir Vinayak Joshi
Author:
Shrimati Shetty
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics
