Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jan 1;35(1):32-36.
doi: 10.1097/MBC.0000000000001270. Epub 2023 Nov 29.

Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy

Simone Canovi  1 , Maria Cristina Leone  2 , Luca Depietri  3 , Maria Rosaria Veropalumbo  3 , Annalisa Pilia  1 , Maria Granito  2 , Antonio Bonanno  1 , Annamaria Casali  2 , Rossana Colla  1 , Angelo Ghirarduzzi  3
Affiliations

Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy

Simone Canovi et al. Blood Coagul Fibrinolysis. .

Abstract

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.

PubMed Disclaimer

References

    1. 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.
    1. 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.
    1. 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.
    1. 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.
    1. 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.

LinkOut - more resources