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Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis
BACKGROUND: Congenital absence of the inferior vena cava (AIVC) is a rare malformation which may be associated with an increased risk for deep vein thrombosis (DVT). However, the role of thrombophilia in AIVC and DVT is unknown. METHODS: Between 1982 and 2013 41 patients (12 female, 29 male, mean ag...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308084/ https://www.ncbi.nlm.nih.gov/pubmed/25604085 http://dx.doi.org/10.1186/s13023-014-0223-4 |
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author | Sagban, Tolga Atilla Scharf, Rüdiger E Wagenhäuser, Markus U Oberhuber, Alexander Schelzig, Hubert Grabitz, Klaus Duran, Mansur |
author_facet | Sagban, Tolga Atilla Scharf, Rüdiger E Wagenhäuser, Markus U Oberhuber, Alexander Schelzig, Hubert Grabitz, Klaus Duran, Mansur |
author_sort | Sagban, Tolga Atilla |
collection | PubMed |
description | BACKGROUND: Congenital absence of the inferior vena cava (AIVC) is a rare malformation which may be associated with an increased risk for deep vein thrombosis (DVT). However, the role of thrombophilia in AIVC and DVT is unknown. METHODS: Between 1982 and 2013 41 patients (12 female, 29 male, mean age 28 S.D. 11 years) were detected at the University of Düsseldorf, Germany, with AIVC. Based on medical history, clinical examination, imaging and coagulation studies, we performed on this collective a risk characterisation. Extensive literature research added further 123 published cases during 1993 and 2013. AIVC-patients were compared with iliocaval DVT-patients without AIVC (n = 168) treated during the same period in our clinic (90 female, 78 male, mean age 38 S.D. 17 years). RESULTS: In contrast to classical DVT younger men were more often affected. Factor-V-Leiden-mutation, 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism and hyperhomocysteinemia individually are associated with an increased risk of DVT in patients with AIVC. Aplasia/hypoplasia of the right or left kidney is also associated with IVCA. CONCLUSIONS: AIVC should be considered in young patients who present with DVT involving the vena cava. Analysis of publications with AIVC and our patients yielded a typical spectrum of AIVC-associated DVT characteristics: AIVC occurs in young male adults, is revealed by proximal DVT, not necessarily accused by precipitating factors like immobilisation, and is mostly located bilateral. Hereditary coagulation abnormalities seem to be more often a contributing factor for DVT in AIVC. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-014-0223-4) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4308084 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-43080842015-01-28 Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis Sagban, Tolga Atilla Scharf, Rüdiger E Wagenhäuser, Markus U Oberhuber, Alexander Schelzig, Hubert Grabitz, Klaus Duran, Mansur Orphanet J Rare Dis Research BACKGROUND: Congenital absence of the inferior vena cava (AIVC) is a rare malformation which may be associated with an increased risk for deep vein thrombosis (DVT). However, the role of thrombophilia in AIVC and DVT is unknown. METHODS: Between 1982 and 2013 41 patients (12 female, 29 male, mean age 28 S.D. 11 years) were detected at the University of Düsseldorf, Germany, with AIVC. Based on medical history, clinical examination, imaging and coagulation studies, we performed on this collective a risk characterisation. Extensive literature research added further 123 published cases during 1993 and 2013. AIVC-patients were compared with iliocaval DVT-patients without AIVC (n = 168) treated during the same period in our clinic (90 female, 78 male, mean age 38 S.D. 17 years). RESULTS: In contrast to classical DVT younger men were more often affected. Factor-V-Leiden-mutation, 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism and hyperhomocysteinemia individually are associated with an increased risk of DVT in patients with AIVC. Aplasia/hypoplasia of the right or left kidney is also associated with IVCA. CONCLUSIONS: AIVC should be considered in young patients who present with DVT involving the vena cava. Analysis of publications with AIVC and our patients yielded a typical spectrum of AIVC-associated DVT characteristics: AIVC occurs in young male adults, is revealed by proximal DVT, not necessarily accused by precipitating factors like immobilisation, and is mostly located bilateral. Hereditary coagulation abnormalities seem to be more often a contributing factor for DVT in AIVC. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-014-0223-4) contains supplementary material, which is available to authorized users. BioMed Central 2015-01-21 /pmc/articles/PMC4308084/ /pubmed/25604085 http://dx.doi.org/10.1186/s13023-014-0223-4 Text en © Sagban et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Sagban, Tolga Atilla Scharf, Rüdiger E Wagenhäuser, Markus U Oberhuber, Alexander Schelzig, Hubert Grabitz, Klaus Duran, Mansur Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title | Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title_full | Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title_fullStr | Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title_full_unstemmed | Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title_short | Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
title_sort | elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308084/ https://www.ncbi.nlm.nih.gov/pubmed/25604085 http://dx.doi.org/10.1186/s13023-014-0223-4 |
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