Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/161397
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dc.contributor.authorBaiges Aznar, Anna-
dc.contributor.authorMorena-Barrio, María Eugenia de la-
dc.contributor.authorTuron, Fanny-
dc.contributor.authorMiñano, Antonia-
dc.contributor.authorFerrusquía, José Alberto-
dc.contributor.authorMagaz Martínez, Marta-
dc.contributor.authorReverter Calatayud, Juan Carlos-
dc.contributor.authorVicente, Vicente-
dc.contributor.authorHernández Gea, Virginia-
dc.contributor.authorCorral, Javier-
dc.contributor.authorGarcía Pagán, Juan Carlos-
dc.date.accessioned2020-05-19T17:03:17Z-
dc.date.available2020-12-29T06:10:19Z-
dc.date.issued2019-12-29-
dc.identifier.issn1168-1177-
dc.identifier.urihttp://hdl.handle.net/2445/161397-
dc.description.abstractSplanchnic vein thromboses (SVT) are a rare condition that can be life-threatening. The most severe thrombophilia associated to SVT is antithrombin (AT) deficiency, usually caused by SERPINC1 mutations. Although transitory AT deficiencies and congenital disorders of the N-glycosylation pathways (CDG) have been recently reported as causes of AT deficiency, the current AT clinical screening still only includes anti-FXa activity. This study aims to 1) improve the detection of antithrombin deficiency in SVT and 2) characterize the features of antithrombin deficiency associated with SVT.The study was performed in 2 cohorts: 1) 89 SVT patients with different underlying etiologies but in whom AT deficiency had been ruled out by classical diagnostic methods; and 2) 271 unrelated patients with confirmed AT deficiency and venous thrombosis. Antithrombin was evaluated by functional (anti-FXa and anti-FIIa) and immunological methods (ELISA, crossed immunoelectrophoresis, western blot), and SERPINC1 sequencing was performed.In 4/89 patients (4.5%) additional alterations in AT were found (two had SERPINC1 mutations, one had a specific variant causing transient AT deficiency and one patient had CDG). In 11 of the 271 patients (4.1%) with AT deficiency and thrombosis, thrombosis was located at the splanchnic venous territory.AT deficiency may be underdiagnosed by current clinical screening techniques. Therefore, a comprehensive AT evaluation should be considered in cases of rethrombosis or doubtful interpretation of anti-FXa activity levels. SVT is a relatively common localization of the thrombotic event in patients with congenital AT deficiency.© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.ca
dc.format.extent9 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoengca
dc.relation.isformatofVersió postprint del document publicat a: https://doi.org/10.1111/liv.14342-
dc.relation.ispartofLiver International, 2020, vol. 40, num. 5, p. 1168-1177-
dc.relation.urihttps://doi.org/10.1111/liv.14342-
dc.rights(c) John Wiley & Sons, 2019-
dc.sourceArticles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)-
dc.subject.classificationTrombosi-
dc.subject.classificationMutació (Biologia)-
dc.subject.otherThrombosis-
dc.subject.otherMutation (Biology)-
dc.titleCongenital antithrombin deficiency in patients with splanchnic vein thrombosisca
dc.typeinfo:eu-repo/semantics/articleca
dc.typeinfo:eu-repo/semantics/acceptedVersion-
dc.date.updated2020-05-19T11:35:01Z-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
dc.identifier.idimarina6014031-
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

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