Original Articles
Vol. 1 No. 2 (2022)
Comparison among three different bleeding scores and the thrombin generation assay to assess the different hemorrhagic phenotypes in patients with FVII deficiency
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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.
Received: 16 January 2022
Accepted: 13 May 2022
Accepted: 13 May 2022
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Defining the bleeding risk in patients with FVII-deficiency is not easy. Aim of this study is to define correlation and differences between three different scores and the thrombin generation assay (TGA) in correctly evaluating the hemorrhagic phenotype in a group of FVII-deficient patients. Fifty-seven patients patients with FVII-deficiency whose hemorrhagic phenotype was assessed by Mariani, ISTH/SSC- Bleeding Assessment Tool (BAT) and Di Minno scores, and by the TGA, were enrolled in this study. TGA parameters (LagTime, Peak, ttPeak, ETP - endogenous thrombin potential) highlighted how both LagTime and ttPeak can discriminate major bleeders from the others, while the same conclusion could not be reached by the ETP and Peak. However, no TGA parameter was found to be useful in separating the mild hemorrhagic phenotype from the moderate one. Scores and TGA were found to be able to only define the severe hemorrhagic phenotypes. None of the methods was able to exactly discriminate the other phenotypes. Given these results, there is therefore a risk of either underestimating or overestimating the potential bleeding risk in patients with non-severe FVII-deficiency.
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Citations
Perry DJ. Factor VII Deficiency. Br J Haematol 2002;118:689-700. DOI: https://doi.org/10.1046/j.1365-2141.2002.03545.x
Napolitano M, Siragusa S, Mariani G. Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. J Clin Med 2017;6:38. DOI: https://doi.org/10.3390/jcm6040038
Peyvandi F, Duga S, Akhavan S, et al. Rare coagulation deficiencies. Haemophilia 2002;8:308–21. DOI: https://doi.org/10.1046/j.1365-2516.2002.00633.x
Lapecorella M, Mariani G; International Registry on Congenital Factor VII Deficiency. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia 2008;14:1170-5 DOI: https://doi.org/10.1111/j.1365-2516.2008.01844.x
Mariani G, Herrmann FH, Dolce A, et al. International Factor VII Deficiency Study Group. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005;93:481-7. DOI: https://doi.org/10.1160/TH04-10-0650
Napolitano M, Di Minno MN, Batorova A, et al. Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies. Hemophilia 2016;22:752-9. DOI: https://doi.org/10.1111/hae.12978
Iwaniec T, Zdziarska J, Musiał J, Sanak M. A Retrospective Analysis of Clinical and Laboratory Data of Patients with Factor VII Deficiency: A Single Centre Experience. Hamostaseologie 2019;39:368-76. DOI: https://doi.org/10.1055/s-0039-1693425
Peyvandi F, di Michele D, Bolton-Maggs PHB, et al. Project on Consensus Definitions in Rare Bleeeding Disorders of the Factor VIII/Factor IX Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost 2012;10:1938-43. DOI: https://doi.org/10.1111/j.1538-7836.2012.04844.x
Peyvandi F, Palla R, Menegatti M, et al. European Network of Rare Bleeding Disorders Group. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21. DOI: https://doi.org/10.1111/j.1538-7836.2012.04653.x
Di Minno MN, Dolce A, Mariani G; STER Study Group. Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency. Thromb Haemost 2013;109:1051-9. DOI: https://doi.org/10.1160/TH12-10-0740
Mariani G, Herrmann FH, Bernardi F, et al. Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7). Blood 2000;96:374. DOI: https://doi.org/10.1182/blood.V96.1.374.013k56d_374_374
Mariani G, Herrmann FH, Dolce A, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency Thromb Haemost 2005;93:481-7. DOI: https://doi.org/10.1160/TH04-10-0650
Rodeghiero F, Tosetto A, Abshire T. ISTH/SSC-BAT 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
Elbatarny M, Mollah S, Grabell J, et al. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophilia 2014;20:831–5. DOI: https://doi.org/10.1111/hae.12503
Tripodi A. Thrombin Generation Assay and its application in the clinical laboratory. Clin Chem 2016;62:699-707. DOI: https://doi.org/10.1373/clinchem.2015.248625
Tran HT, Tjønnfjord GE, Holme PA. Use of thromboelastography and thrombin generation assay to predict clinical
phenotype in patients with severe FVII deficiency. Haemophilia 2014;20:141-6. DOI: https://doi.org/10.1111/hae.12256
Hemker HC, Giesen P, Al Dieri R, et al. Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiol Haemost Thromb 2003;33:4-15. DOI: https://doi.org/10.1159/000071636
Toret E, Ay Y, Karapinar TH, et al. Evaluation of Bleeding Phenotype of Inherited Factor VII Deficiency in Children With a Bleeding Assessment Tool and Global Assays. J Pediatr Hematol Oncol 2020;42:e527-30. DOI: https://doi.org/10.1097/MPH.0000000000001564
Tosetto A, Rodeghiero F, Castaman G, et al. A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease. Haemophilia 2011;17:165–6. DOI: https://doi.org/10.1111/j.1365-2516.2010.02381.x
Palla R, Siboni SM, Menegatti M, et al. European Network of Rare Bleeding Disorders (EN-RBD) Group. Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders. Thromb Res 2016;148:128–34. DOI: https://doi.org/10.1016/j.thromres.2016.11.008
How to Cite
1.
Pasca S, Santoro C, Ambaglio C, Napolitano M, Milan M, Natali L, et al. Comparison among three different bleeding scores and the thrombin generation assay to assess the different hemorrhagic phenotypes in patients with FVII deficiency. Bleeding Thromb Vascul Biol [Internet]. 2022 May 23 [cited 2025 Oct. 23];1(2). Available from: https://www.btvb.org/btvb/article/view/12
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