Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.

Autor:	Bravo-Pérez C; Hospital Universitario Morales Meseguer, Murcia, Spain; Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain. Electronic address: carlos.bravop@um.es., Blanco A; Hospital Universitario Morales Meseguer, Murcia, Spain., Revilla N; Hospital Universitario Ramón y Cajal, Madrid, Spain., Cobos J; Hospital Universitario Ramón y Cajal, Madrid, Spain., Salgado-Parente A; Hospital Universitario Ramón y Cajal, Madrid, Spain., Asenjo S; Hospital Clínico San Carlos, Madrid, Spain., Méndez R; Hospital Clínico San Carlos, Madrid, Spain., Marti-Bonmati L; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bonanad S; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Albillos JC; Hospital Universitario 12 de Octubre, Madrid, Spain., Castro N; Hospital Universitario 12 de Octubre, Madrid, Spain., Marcellini S; Hospital General de Segovia, Segovia, Spain., López Sala P; Hospital Universitario Donostia, San Sebastián, Spain., Lasa M; Hospital Universitario Donostia, San Sebastián, Spain., Bastida JM; Complejo Asistencial Universitario de Salamanca, Salamanca, Spain., Infante MS; Hospital Universitario Infanta Leonor, Madrid, Spain., Corral MA; Hospital Nuestra Señora de Sonsoles, Ávila, Spain., Pagan J; Hospital Universitario Morales Meseguer, Murcia, Spain; Hospital Reina Sofía, Murcia, Spain., Llamas P; Fundación Jimenez Diaz, Madrid, Spain., Rodríguez-Sevilla JJ; Hospital del Mar, Barcelona, Spain., Rodríguez-Alen A; Hospital Virgen de la Salud, Toledo, Spain., Sevivas TS; Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Morello D; Hospital Clínico Universitario de Valencia, Valencia, Spain., Villar CG; Hospital Puerta del Mar, Cádiz, Spain., Lojo S; Hospital Ribera Povisa, Vigo, Spain., Marco A; Hospital General Universitario de Alicante, Alicante, Spain., Simioni P; General Medicine and Thrombotic and Haemorrhagic Diseases Unit, Department of Medicine-DIMED, University-Hospital of Padova, Padua, Italy., Vicente V; Hospital Universitario Morales Meseguer, Murcia, Spain., Lozano ML; Hospital Universitario Morales Meseguer, Murcia, Spain; Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., de la Morena-Barrio ME; Hospital Universitario Morales Meseguer, Murcia, Spain; Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain., García-Santos JM; Hospital Universitario Morales Meseguer, Murcia, Spain., Corral J; Hospital Universitario Morales Meseguer, Murcia, Spain; Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain.
Jazyk:	angličtina
Zdroj:	The Lancet. Haematology [Lancet Haematol] 2024 Aug; Vol. 11 (8), pp. e606-e616. Date of Electronic Publication: 2024 Jun 12.
DOI:	10.1016/S2352-3026(24)00138-8
Abstrakt:	Background: Inferior vena cava agenesis (IVCA) is a rare anomaly predisposing affected people to lower-limb venous thrombosis with low frequency of pulmonary embolism. Antenatal thrombosis and inherited thrombophilia have been suggested as causes of IVCA. However, there is little evidence on the clinical course and management of this condition. We designed a patient registry to assess the thrombotic risk and features of IVCA. Methods: In this this multicentre, retrospective, observational study, we included patients with IVCA diagnosed by routine imaging from 20 hospitals in Spain (n=18), Portugal (n=1), and Italy (n=1). Patients were identified from a systematic search in radiology databases using data extraction software (cohort A) and alternative searches in medical records for confirmed IVCA (cohort B; option allowed when systematic approaches were unapplicable). Primary outcomes were clinical and imaging features, thrombotic risk, phenotype of IVCA-associated thrombosis, anticoagulant treatment, and the results of thrombophilia testing. Findings: We included patients with IVCA diagnosed by routine imaging studies done between Jan 1, 2010, and Dec 31, 2022. In the systematic search, 4 341 333 imaging exams were screened from the radiology databases of eight centres. 122 eligible patients were enrolled in cohort A. A further 95 patients were identified by screening medical records at 12 centres, of whom 88 were eligible and included in cohort B, making a combined cohort of 210 patients. 96 (46%) of 210 patients were female and 200 (95%) were European or Hispanic. 60 (29%) of 210 patients had hepatic IVC interruption, whereas 150 (71%) had extrahepatic IVCA. In cohort A, 65 (53%) of 122 patients had venous thrombosis, with an estimated annual risk of 1·15% (95% CI 0·89-1·46). Extrahepatic IVCA was associated with a greater risk of venous thrombosis than hepatic IVCA (56 [67%] of 84 patients vs nine [24%] of 38 patients, odds ratio 5·31, 95% CI 2·27-12·43; p<0·0001). Analysis of 126 patients with venous thrombosis pooled from cohorts A and B showed early-onset (median age 34·6 years, IQR 23·3-54·3) and recurrent events (50 [40%] of 126 patients). Patients with extrahepatic IVCA had greater proportions of lower-limb venous thrombosis (95 [87%] of 109 vs nine [53%] of 17, p=0·0010) and recurrence (48 [44%] of 109 vs two [12%] of 17, p=0·015), but lower rates of pulmonary embolism (10 [10%] of 99 vs four [33%] of 12, p=0·044) than did patients with hepatic IVCA. 77 (63%) of 122 patients with thrombosis underwent indefinite anticoagulation. 32 (29%) of 111 patients (29 [34%] of 86 with thrombosis) had coexisting thrombophilias. The recurrence risk was lower for patients receiving indefinite anticoagulation (adjusted odds ratio 0·24, 95% CI 0·08-0·61; p=0·010), and greater for thrombophilias (3·19, 1·09-9·32; p=0·034). Interpretation: This evaluation of a large patient cohort demonstrates the high thrombotic burden of IVCA. We have identified two distinct forms of IVCA, hepatic and extrahepatic, suggesting different underlying mechanisms. Beyond clinical characterisation, we draw attention to this orphan disease and highlight the need for its study and improved care. Funding: Spanish Society of Thrombosis and Haemostasis, Instituto de Salud Carlos III, FEDER, Fundación Séneca. Competing Interests: Declaration of interests We declare no competing interests. (Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies.)
Databáze:	MEDLINE
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