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Vol. 3 No. 1 (2024)
ReDIP, the Italian network for the diagnosis of congenital platelet function disorders
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 22 April 2024
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Congenital platelet function disorders (cPFD) are associated with an increased risk of mucocutaneous bleeding of various levels of severity; they may be classified based on abnormalities of platelet components that share common characteristics: i) platelet receptors for adhesive proteins; ii) platelet receptors for soluble agonists; iii) platelet granules; iv) signal transduction pathways; v) procoagulant phospholipids; less well characterized PFD aregrouped in a sixth category of miscellaneous abnormalities [...].
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Citations
Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost 2003;:1628-36 DOI: https://doi.org/10.1046/j.1538-7836.2003.00266.x
Quiroga T, Goycoolea M, Panes O, et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 2007;92:357-65 DOI: https://doi.org/10.3324/haematol.10816
Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-9 DOI: https://doi.org/10.1182/blood.V69.2.454.454
Rodeghiero F, Tosetto A, Abshire T, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010;8:2063-5 DOI: https://doi.org/10.1111/j.1538-7836.2010.03975.x
Lowe GC, Lordkipanidzé M, Watson SP et al. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost 2013;11:1663-8 DOI: https://doi.org/10.1111/jth.12332
Podda GM, Bucciarelli P, Lussana F et al. Usefulness of PFA-100 testing in the diagnostic screening of patients with suspected abnormalities of hemostasis: comparison with the bleeding time. J Thromb Haemost. 2007;5:2393-8 DOI: https://doi.org/10.1111/j.1538-7836.2007.02752.x
Cattaneo M. Congenital disorders of platelet function. In: AD Michelson, ed. Platelets, 3rd editon. San Diego, CA: Elsevier/Academic Press; 2013. pp 1019-47 DOI: https://doi.org/10.1016/B978-0-12-387837-3.00050-X
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Cattaneo M, Ghali C, Scavone M. ReDIP, the Italian network for the diagnosis of congenital platelet function disorders. Bleeding Thromb Vascul Biol [Internet]. 2024 Apr. 22 [cited 2025 Nov. 9];3(1). Available from: https://www.btvb.org/btvb/article/view/134
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