title: Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis.
abstract: 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.
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. drsagban@yahoo.de.
authors.forename: Tolga Atilla
authors.initials: TA
authors.lastname: Sagban
authors.affiliation: Department for Hemostasis and Transfusion Medicine, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. rudiger.scharf@med.uni-duesseldorf.de.
authors.forename: Rüdiger E
authors.initials: RE
authors.lastname: Scharf
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. markus.wagenhaeuser@med.uni-duesseldorf.de.
authors.forename: Markus U
authors.initials: MU
authors.lastname: Wagenhäuser
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. alexander.oberhuber@med.uni-duesseldorf.de.
authors.forename: Alexander
authors.initials: A
authors.lastname: Oberhuber
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. hubert.schelzig@med.uni-duesseldorf.de.
authors.forename: Hubert
authors.initials: H
authors.lastname: Schelzig
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. klaus.grabitz@med.uni-duesseldorf.de.
authors.forename: Klaus
authors.initials: K
authors.lastname: Grabitz
authors.affiliation: Department of Vascular and Endovascular Surgery, Heinrich Heine University Düsseldorf, Moorenstraße.5, 40225, Düsseldorf, Germany. mansur.duran@med.uni-duesseldorf.de.
authors.forename: Mansur
authors.initials: M
authors.lastname: Duran
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics; D014682:Vena Cava, Inferior / Q000002:abnormalities*; D020246:Venous Thrombosis / Q000209:etiology; D055815:Young Adult