https://m2.mtmt.hu/ hun 2026-10-25 11:53 JournalArticle 35754845 APPROVED true 0 false 2026-07-28T09:18:20.409+0000 2026-04-20T12:30:57.803+0000 2025-02-12T07:34:07.726+0000 true 10069641 Csűry-Bagaméry Beáta /api/admin/10069641 Admin false 2026-01-23T09:10:53.998+0000 2026-01-23T09:10:53.998+0000 true true true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Bravo-Pérez, Carlos How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant true true /api/journal/10001276 REVIEWED true false 10001276 false 10001276 true 1538-7933 1538-7836 Journal FOREIGN S1538-7836(25)00058-3 S1538-7836(25)00058-3 2025 Antithrombin deficiency represents one of the most severe inherited thrombophilias. Albeit a rare disorder, available knowledge suggests that antithrombin deficiency is underestimated due to limitations of current diagnostic algorithms. The high clinical variability of this patient population may be another cause of underdiagnosis. Heterozygous type I (quantitative) variants are normally associated with a severe thrombophilic phenotype, whilst heterozygous type II (qualitative) variants are heterogeneous, including heparin binding site (HBS) defects, which are mild/moderate and the most prevalent. Antithrombin Budapest 3 (p.Leu131Phe) is the most frequent type II/HBS deficiency in Europe, particularly in Roma population, with a remarkable existence of homozygous subjects.Clinical features, diagnostic procedures, and management of patients with severe antithrombin deficiency, leveraging the study of cases homozygous for the antithrombin Budapest 3 variant.Patients were selected from 699 subjects with antithrombin deficiency, recruited over 25 years in reference centers from Spain, Belgium, and Hungary.Guided by two illustrative cases with homozygous antithrombin Budapest 3, we report the spectrum and clinical management of patients suffering from this disorder. These cases, with very low antithrombin activity (<20%), and juvenile and recurrent venous thromboembolism, recapitulate numerous issues that one might encounter when treating patients with antithrombin deficiency. In addition, special clinical scenarios for which no formal evidence-based guidelines exist might be found more frequently in these patients, including heparin resistance, vena cava anomalies and obstetric complications. Expert proposals on the optimal management of these controversial areas, as well as future perspectives are also formulated. 2025 true true true false false NONE 2026-07-28 false 7 0 7 5 0 7 7 7 7 7 7 5 5 5 2 0 7 5 7 5 0 6 6 Folyóiratcikk Journal Article 24 7 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2025 0 3 1 3 1 2026 0 4 4 4 4 D1 false 10022095 false false false 2025-12-11T07:41:37.862+0000 Klinikai Laboratóriumi Kutató Tanszék (DE / ÁOK / LMI) 2 17 1 6 0 true Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 123263941 /api/authorship/123263941 1 0.16666667 true false false Bravo-Pérez Carlos true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 123263942 /api/authorship/123263942 2 0.16666667 false false false Corral Javier true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 123263943 /api/authorship/123263943 3 0.16666667 false false false Orlando Christelle true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 123263944 /api/authorship/123263944 4 0.16666667 false false false Ignjatovic Vera true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 123263945 /api/authorship/123263945 5 0.167 false false false Author 10037967 /api/author/10037967 Ilonczai Péter true 10037967 true Ilonczai Péter true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 123263946 /api/authorship/123263946 6 0.167 false true false Author 10022095 /api/author/10022095 Bereczky Zsuzsanna true 10022095 true Bereczky Zsuzsanna true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 28387203 /api/publicationidentifier/28387203 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.1016/j.jtha.2025.01.015 https://doi.org/10.1016/j.jtha.2025.01.015 false true PublicationIdentifier 29830989 /api/publicationidentifier/29830989 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001483464800001 https://www.webofscience.com/wos/woscc/full-record/001483464800001 false true PublicationIdentifier 29830990 /api/publicationidentifier/29830990 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true 85218889241 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85218889241 false true PublicationIdentifier 28387202 /api/publicationidentifier/28387202 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true 39933654 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39933654&dopt=Abstract false true Keyword 620 /api/keyword/620 true 620 true Keyword 1105885 /api/keyword/1105885 true 1105885 true Keyword 1260307 /api/keyword/1260307 true 1260307 true Keyword 1843457 /api/keyword/1843457 true true Keyword 1843458 /api/keyword/1843458 true true SjrRating 11602421 /api/sjrrating/11602421 141 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2701 /api/classificationexternal/2701 true 2701 true D1 DIRECT true true /api/publication/35754845 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Bravo-Pérez Carlos </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Corral Javier </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Orlando Christelle </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ignjatovic Vera </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10037967"><a href="/gui2/?type=authors&mode=browse&sel=10037967" target="_blank">Ilonczai Péter (<span class="authorship-author-name">Ilonczai Péter</span> <span class="authorAux-mtmt"> belgyógyászat</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10022095"><a href="/gui2/?type=authors&mode=browse&sel=10022095" target="_blank">Bereczky Zsuzsanna (<span class="authorship-author-name">Bereczky Zsuzsanna</span> <span class="authorAux-mtmt"> véralvadás</span>) </a> </span> <span class="author-affil"><span title="Debreceni Egyetem">DE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/<span title="Laboratóriumi Medicina Intézet">LMI</span>/Klinikai Laboratóriumi Kutató Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35754845" target="_blank">How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant</a></div> <div> <span class="journal-title">JOURNAL OF THROMBOSIS AND HAEMOSTASIS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1538-7933">1538-7933</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1538-7836">1538-7836</a>)</span>: <span class="journal-volume"></span> <span class="page"> Paper S1538-7836(25)00058-3. </span> <span class="year">(2025)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1016/j.jtha.2025.01.015" target="_blank" href="https://doi.org/10.1016/j.jtha.2025.01.015"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001483464800001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001483464800001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="85218889241" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85218889241"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:black" title="39933654" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39933654&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Hematology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 7</span> | Független: 5 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 7 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;7 | DOI jelölt:&nbsp;7 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35754845&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 6 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 35754845</span> | <span class="status-data status-APPROVED"> Nyilvános </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Utolsó módosítás: 2026.04.20. 14:30 Csűry-Bagaméry Beáta (DE/ÁOK/LMI/KLKT admin5) </div> </div></div>