10.4081/btvb.2024.134
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 [...].
application/pdf
2785-5309
134
1
en
Mariangela Scavone
https://creativecommons.org/licenses/by-nc/4.0
Bleeding, Thrombosis and Vascular Biology
 congenital platelet function disorders
ReDIP, the Italian network for the diagnosis of congenital platelet function disorders
Text.Serial.Journal
https://www.btvb.org/btvb
3
Letters
2024-04-22
2024-03-31
2024-03-01
2024-04-22
Bleed Thromb Vascul Biol
Mariangela Scavone
2024/04/22
10.4081/btvb.2024.134
Dipartimento di Scienze della Salute, Università degli Studi di Milano
2785-5309
1
 congenital platelet function disorders
en
Cattaneo M. Congenital disorders of platelet function. In: AD Michelson, ed. Platelets, 3rd editon. San Diego, CA: Elsevier/Academic Press; 2013. pp 1019-47
ReDIP, the Italian network for the diagnosis of congenital platelet function disorders
https://www.btvb.org/btvb/article/download/134/103
3
                                                                                                 LETTER TO THE EDITOR

ReDIP, the Italian network for the diagnosis of congenital platelet
function disorders


Dear Editor,

     Congenital platelet function disorders (cPFD) are associated
with an increased risk of mucocutaneous bleeding of various lev-
els of severity; they may be classified based on abnormalities of
platelet components that share common characteristics:1 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 are
grouped in a sixth category of miscellaneous abnormalities.1 Al-          independent ReDIP website has been created to facilitate contacts
though the prevalence of every single disorder is low, it has been        and exchange of information: https://www.retepiastrinopatie.it/.
shown that the overall frequency of cPFD might exceed that of             The smooth operation of ReDIP not only will allow the identifi-
von Willebrand Disease (VWD),2 which was historically consid-




                                                                                                     ly
                                                                          cation of a greater number of cPFD patients and, consequently,
ered the most frequent congenital abnormality of hemostasis.3             their improved clinical management, but it will also act as a cat-




                                                                                             on
     The diagnosis of cPFD is complex because it requires the per-        alyst for the cultural growth of all participating centers, aligning
formance of specific tests that are not generally available in rou-       their activities with state-of-the-art standards, and increase the
tine laboratories and require the involvement of expert and               awareness of cPFD in the medical community as well as in the
dedicated personnel in specialized centers. Careful assessment of         general population at large.




                                                                                       e
the bleeding history is extremely important and could be done
using the International Society of Thrombosis and Haemostasis
Bleeding Assessment Tool score,4 although it is not specific for
                                                                                us
                                                                          References
cPFD.5 The suspicion of defects of primary hemostasis (such as             1. Cattaneo M. Inherited platelet-based bleeding disorders. J
                                                                          al
cPFD or VWD) could be raised by the prevalence of mucocuta-                   Thromb Haemost 2003:1628-36.
neous bleedings over other types of bleedings. Global tests of pri-
                                                              ci

                                                                           2. Quiroga T, Goycoolea M, Panes O, et al. High prevalence of
mary hemostasis, such as the bleeding time and the platelet                   bleeders of unknown cause among patients with inherited mu-
function analyzer -100 closure time are not very sensitive and spe-
                                                            er


                                                                              cocutaneous bleeding. A prospective study of 280 patients and
cific and are therefore not very useful.6 A two-step diagnostic strat-        299 controls. Haematologica 2007;92:357-65.
egy for cPFD is suggested.7 The first step, based on screening
                                                           m



                                                                           3. Rodeghiero F, Castaman G, Dini E. Epidemiological investi-
tests, should help raise a diagnostic hypothesis, while the second            gation of the prevalence of von Willebrand's disease. Blood
step, based on specific tests, challenges the validity of the diag-
                                                 om




                                                                              1987;69:454-9.
nostic hypothesis. In the first diagnostic step, laboratory tests eval-    4. Rodeghiero F, Tosetto A, Abshire T, et al. ISTH/SSC bleeding
uating platelet aggregation and secretion should be implemented,              assessment tool: a standardized questionnaire and a proposal
which are generally available in laboratories that are specialized            for a new bleeding score for inherited bleeding disorders. J
                                           -c




in the diagnosis of cPFD. The second diagnostic step involves                 Thromb Haemost 2010;8:2063-5.
many heterogeneous laboratory tests, such as flow cytometry,               5. Lowe GC, Lordkipanidzé M, Watson SP, et al. Utility of the
                                  on




western blot, immunoprecipitation analyses, immunofluores-                    ISTH bleeding assessment tool in predicting platelet defects
cence, measurement of platelet granule content, measurement of                in participants with suspected inherited platelet function dis-
                             N




platelet eicosanoids, electron microscopy, DNA analysis, ligand               orders. J Thromb Haemost 2013;11:1663-8.
binding assays, and many others, which, due to their heterogeneity         6. Podda GM, Bucciarelli P, Lussana F, et al. Usefulness of PFA-
and complexity, may not all be available even in specialized cen-             100 testing in the diagnostic screening of patients with sus-
ters. A DNA-based diagnostic approach has a potentially very im-              pected abnormalities of hemostasis: comparison with the
portant role in the investigation of patients with cPFD.                      bleeding time. J Thromb Haemost 2007;5:2393-8.
     The complexity of the diagnostic work-up for cPFD ac-                 7. Cattaneo M. Congenital disorders of platelet function. In: AD
counts for the paucity of specialized centers and for the inability           Michelson (eds). Platelets, 3rd edition. San Diego, CA: Else-
to reach a definite diagnosis in about 40% of patients presenting             vier/Academic Press; 2013:1019-47.
with congenital mucocutaneous bleedings not associated with
known abnormalities of von Willebrand factor or other plasmatic                                                         Marco Cattaneo
adhesive proteins that are involved in platelet adhesion and/or                    Fondazione Arianna Anticoagulazione, Bologna, Italy
platelet aggregation. To improve our diagnostic performance,                  Dipartimento di Scienze della Salute, Università degli Studi
we think that an effort should be made to bring together all the                                                         di Milano, Italy
centers that are devoted to the diagnosis of cPFD, independently
of the complexity and variety of laboratory techniques that are                                                           Claudia Ghali
available in each of them.                                                    Dipartimento di Scienze della Salute, Università degli Studi
     With this aim in mind, it has been recently organized a diag-                                                       di Milano, Italy
nostic network for cPFD (ReDIP, Rete Diagnostica Italiana per
Piastrinopatie congenite) in Italy. ReDIP aims at taking a census                                                   Mariangela Scavone
of as many as possible Italian centers that are involved in the di-           Dipartimento di Scienze della Salute, Università degli Studi
agnosis of cPFD and favor their interaction and collaboration. An                                                        di Milano, Italy


                                           Bleeding, Thrombosis and Vascular Biology 2024; 3:134
