Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects

Maaike W Blaauwgeers; Marieke J H A Kruip; Erik A M Beckers; Michiel Coppens; Jeroen Eikenboom; Karin P M van Galen; Rienk Y J Tamminga; Rolf T Urbanus; Roger E G Schutgens

doi:10.1002/ajh.25910

Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects

Am J Hematol. 2020 Oct;95(10):1142-1147. doi: 10.1002/ajh.25910. Epub 2020 Jul 14.

Authors

Maaike W Blaauwgeers¹, Marieke J H A Kruip², Erik A M Beckers³, Michiel Coppens⁴, Jeroen Eikenboom⁵, Karin P M van Galen¹, Rienk Y J Tamminga⁶, Rolf T Urbanus^{1

7}, Roger E G Schutgens¹

Affiliations

¹ Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, the Netherlands.
² Department of Haematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
³ Department of Hematology, Maastricht University Medical Center, Maastricht, the Netherlands.
⁴ Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
⁵ Department of Internal Medicine, division of Thrombosis and Haemostasis, Leiden University Medical Center, Leiden, the Netherlands.
⁶ Department of Pediatric Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.
⁷ Van Creveld Laboratory, University Medical Center Utrecht, University Utrecht, Utrecht, the Netherlands.

Abstract

Phenotypic characterization of congenital platelet defects (CPDs) could help physicians recognize CPD subtypes and can inform on prognostic implications. We report the analyses of the bleeding phenotype and diagnostic characteristics of a large cohort of adult patients with a confirmed CPD. A total of 96 patients were analyzed and they were classified as Glanzmann thrombasthenia, Bernard-Soulier syndrome, dense granule deficiency, defects in the ADP or thromboxane A2 (TxA2) pathway, isolated thrombocytopenia or complex abnormalities. The median ISTH-BAT bleeding score was nine (IQR 5-13). Heavy menstrual bleeding (HMB) (80%), post-partum hemorrhage (74%), post-operative bleeds (64%) and post-dental extraction bleeds (57%) occurred most frequently. Rare bleeding symptoms were bleeds from the urinary tract (4%) and central nervous system (CNS) bleeds (2%). Domains with a large proportion of severe bleeds were CNS bleeding, HMB and post-dental extraction bleeding. Glanzmann thrombasthenia and female sex were associated with a more severe bleeding phenotype.