Abstract Number: PB1489
Meeting: ISTH 2020 Congress
Background: Inherited platelet disorders (IPDs) are a heterogeneous group of congenital rare diseases, characterized by variable bleeding. IPDs comprise both inherited thrombocytopenia (IT) and/or inherited platelet function disorders (IPFDs). Even under expert analysis, diagnosis of IPD remains a challenge due to clinical and molecular heterogeneity. Bleeding assessment tools (BATs) are recommended to evaluate the bleeding phenotype (BP).
Aims: Evaluate the BP in our IPDs patients by the ISTH-BAT and compare the BP between ITs and IPFDs, and investigate potential association between ISTH-BAT bleeding score (BS) and findings in platelet function tests.
Methods: We performed a retrospective study of 138 patients recruited in the multicenter Spanish Project in IPD of the Society of Thrombosis and Haemostasis (SETH). BP was related to bleeding score (BS) as evaluated by the ISTH-BAT. Platelet phenotyping included blood cells count, blood film, light transmission aggregometry (LTA), and we also assessed genetic diagnosis by means of HTS (high-throughput sequencing) targeted gene panel.
Results: Sixty six percent of the patients were female; median age was 31 (0-71) years; 85 cases (62%) presented with IT, while 53 cases (38%) have IPFDs. Abnormal LTA profile was demonstrated in 69 patients (50%). Median BS was 5 (0-25) and the most common bleeding complication was epistaxis. The BS was higher in adults vs. children’s [6 (0-18) vs. 1 (range, 0-6),p< 0.05], female vs. male [5 (0-25) vs. 3 (0-21),p=0.017] and IPFDs vs. ITs [7 (2-25) vs. 2 (0-21),p< 0.05]. In the cohort of IT patients, higher BS was associated to impaired LTA [8 (0-25) vs. 1 (0-8) in IT with normal LTA profile,p< 0.001].
Conclusions: The BS determined by ISTH-BAT was associated with impaired platelet function. This study suggests that ISTH-BAT could be useful to identified patients with significant abnormalities in platelet function, which are candidates to further platelet phenotyping.
Funding: PI17/01966,GRS2061A/19,FMM AP172142019,Premio López Borrasca 2019.
To cite this abstract in AMA style:Bastida JM, Lozano ML, Marín-Quílez A, Tomás-Menor L, Sevivas T, Rodríguez-Alén A, Butta N, Fernández-Mosteirin N, Aguilar C, Bermejo N, Sierra C, Lozano M, López-Fernández MF, Velasco F, Varo MJ, Alonso MN, Marco P, González Porras JR, Cid A, Rivera J. Usefulness of ISTH-BAT in Clinical Assessment of Inherited Platelet Disorders: Experience of the Spanish National Project [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/usefulness-of-isth-bat-in-clinical-assessment-of-inherited-platelet-disorders-experience-of-the-spanish-national-project/. Accessed October 2, 2023.
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