Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy.
Journal
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
ISSN: 1473-5733
Titre abrégé: Blood Coagul Fibrinolysis
Pays: England
ID NLM: 9102551
Informations de publication
Date de publication:
30 Nov 2023
30 Nov 2023
Historique:
medline:
6
12
2023
pubmed:
6
12
2023
entrez:
5
12
2023
Statut:
aheadofprint
Résumé
To examine real-life clinical data regarding hereditary factor XI (FXI) deficiency from a secondary care centre. Retrospective review of clinical records for every FXI:C 0.7 IU/ml or less reported from 2012 to 2020. Seventy-nine patients were included. Six (7.6%) had a severe deficiency (FXI:C <0.2 IU/ml). Only 55 (69.6%) patients were referred to the Haemostasis Centre. Among them, six (15%) were subsequently not identified at increased haemorrhagic risk before a surgical/obstetrical procedure. Thirty-three (41.8%) experienced at least one bleeding event, minor (25 patients) and/or major (16 patients). Minor bleedings were predominantly spontaneous and more frequent in women, major events were mainly provoked. No correlation was found between FXI:C and risk of bleeding (P = 0.9153). Lower FXI:C, but not a positive bleeding history, was related with higher likelihood of being referred to the Haemostasis Centre (P = 0.0333). Hereditary FXI deficiency prevalence is likely underestimated, real-life clinical practices outside reference centres could be suboptimal.
Identifiants
pubmed: 38051652
doi: 10.1097/MBC.0000000000001270
pii: 00001721-990000000-00119
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Références
Castaman G, Giacomelli SH, Caccia S, Riccardi F, Rossetti G, Dragani A, et al. The spectrum of factor XI deficiency in Italy. Haemophilia 2014; 20:106–113.
Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006; 12:490–493.
James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency. Haemophilia 2014; 20 Suppl 4:71–75.
Zhang X, Lewandowska M, Aldridge M, Iglay K, Wolford E, Shapiro A. Global epidemiology of factor XI deficiency: a targeted review of the literature and foundation reports. Haemophilia 2023; 29:423–434.
Esteban J, de la Morena-Barrio ME, Salloum-Asfar S, Padilla J, Miñano A, Roldán V, et al. High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: results from the Yecla study. Haemophilia 2017; 23:e488–e496.
Maas DPMSM, Saes JL, Blijlevens NMA, Cnossen MH, den Exter PL, Kruis IC, et al. RBiN study group Treatment of patients with rare bleeding disorders in the Netherlands: real-life data from the RBiN study. J Thromb Haemost 2022; 20:833–844.
Schulman S, Angerås U, Bergqvist D, Eriksson B, Lassen MR, Fisher W, et al. Definition of major bleeding in clinical investigations of antihemostatic medicinal products in nonsurgical patients. J Thromb Haemost 2005; 3:692–694.
Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, et al. ISTH/SSC joint VWF and Perinatal/Pediatric Hemostasis Subcommittees Working Group ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8:2063–2065.
Duga S, Salomon O. Factor XI deficiency. Semin Thromb Hemost 2009; 35:416–425.
Tosetto A, Castaman G, Plug I, Rodeghiero F, Eikenboom J. Prospective evaluation of the clinical utility of quantitative bleeding severity assessment in patients referred for hemostatic evaluation. J Thromb Haemost 2011; 9:1143–1148.