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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...

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Autores principales: Sagban, Tolga Atilla, Scharf, Rüdiger E, Wagenhäuser, Markus U, Oberhuber, Alexander, Schelzig, Hubert, Grabitz, Klaus, Duran, Mansur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
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.
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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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