Abstract Number: PB1438
Meeting: ISTH 2020 Congress
Background: Identification of new forms of inherited thrombocytopenia (IT) lead to their growing recognition. Distinguishing IT subgroups by clinical evaluation and platelet (PLT) studies is the first step to diagnosis and may suggest candidate disorders.
Aims: To characterize the most prevalent IT from a Portuguese Coagulopathies Center by the assessment of bleeding score (BS by ISTH-BAT), occlusion time (OT by PFA-200), PLT count, mean platelet volume (MPV) and immature platelet fraction (IPF), and to correlate these findings with IT variants.
Methods: The above-mentioned parameters were evaluated in 113 patients [31 ITGA2B/ITGB3-RT, 19 ANKRD26-RT, 16 TUBB1-RT, 15 ACTN1-RT, 13 MYH9-RD, 11 monoallelic Bernard-Soulier Syndrome (mBSS), 8 biallelic BSS (bBSS)] and 20 healthy controls.For the analysis, group comparisons were performed using Kruskal-Wallis test, followed by pairwise comparisons with Dunn´s post-hoc test (adjusted with Bonferroni method). p< 0.05 was considered statistically significant.
Results: bBSS had significantly higher BS (8) as compared to mBSS (0), TUBB1-RT (0.5) and controls (0). All IT groups had significantly lower PLT counts compared with controls (232×109/L), except TUBB1-RT (120×109/L); the lowest PLT counts were observed in MYH9-RD (25×109/L) and bBSS (45×109/L). ANKRD26-RT had significantly lower MPV (10.4 fL) compared to other groups, except controls (11.1 fL); MYH9-RD showed significantly higher MPV (23.0 fL) compared to all groups, except bBSS (20.95 fL). All IT groups had higher IPF compared to controls (3.95%), except ANKRD26-RT (4.9%); MYH9-RD had the highest IPF values (61.1%). For PFA-Col/ADP and Col/Epi, bBSS (with the longest OT, > 300s), ITGA2B/ITGB3-RT, TUBB1-RT and MYH9-RD were significantly different from controls.
Conclusions: The BS and PLT parameters are useful for differential diagnosis of IT. Particularly, MYH9-RD and bBSS can be suspected based on the lower PLT counts and higher MPVs and OT can helpfully distinguish bBSS from other ITs. BS revealed limitations for subgroup discrimination.
To cite this abstract in AMA style:Gonçalves F, Vasconcelos F, Cruz E, Pereira M, Carmona M, Esteves S, Freitas I, Lima M, Morais S. Clinical, Morphological and Functional Platelet Tests in Inherited Thrombocytopenia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/clinical-morphological-and-functional-platelet-tests-in-inherited-thrombocytopenia/. Accessed October 2, 2023.
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