TY - JOUR
T1 - Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects
AU - Blaauwgeers, Maaike W.
AU - Kruip, Marieke J. H. A.
AU - Beckers, Erik A. M.
AU - Coppens, Michiel
AU - Eikenboom, Jeroen
AU - van Galen, Karin P. M.
AU - Tamminga, Rienk Y. J.
AU - Urbanus, Rolf T.
AU - Schutgens, Roger E. G.
PY - 2020/7/14
Y1 - 2020/7/14
N2 - 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.
AB - 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.
KW - GUIDELINES
KW - DISORDERS
KW - SYMPTOMS
KW - ADULT
U2 - 10.1002/ajh.25910
DO - 10.1002/ajh.25910
M3 - Article
SN - 0361-8609
VL - 95
SP - 1142
EP - 1147
JO - American Journal of Hematology
JF - American Journal of Hematology
IS - 10
ER -