title: [Agenesis of inferior vena cava combined with multiple genetic predisposition in the case of deep venous thrombosis in a young male].
abstract: Deep venous thrombosis in the young age may be a complication of the rare congenital abnormality of the vena cava inferior. Genetic factors predisposing to thrombophilia in coincidence with vena cava malformation put the patients at much higher risk to develop thrombosis. The authors report a case of a 25-year old male who suffered from a massive deep venous thrombosis derived from the vena poplitea involving the vena iliaca communis. The molecular genetic examination of the patient revealed his combined genetic predisposition to venous thrombosis (Heterozygosity for Factor V. Leiden, Heterozygosity for prothrombin G20210A). Authors conclude that it is essential to perform all the relevant molecular genetic examinations to identify the presence of thrombophilic vulnerabilty and radiological imaging procedures in all cases of young patients with deep venous thrombosis if the suspicion of vascular malformation arises. The review of the literature revealed that the vena cava malformation in association with genetic factor predisposing to thrombophilia is an infrequent condition. In the authors knowledge this is the first report presenting a multiple combined genetic predisposition of risk factors in deep venous thrombosis.
authors.affiliation: Pécsi Tudományegyetem, Altalános Orvostudományi Kar, I. Belgyógyázati Klinika.
authors.forename: Tímea
authors.initials: T
authors.lastname: Vidra
authors.forename: Arpád
authors.initials: A
authors.lastname: Szomor
authors.forename: István
authors.initials: I
authors.lastname: Battyáni
authors.forename: Diana
authors.initials: D
authors.lastname: Mühl
authors.forename: Hajna
authors.initials: H
authors.lastname: Losonczy
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007084:Iliac Vein; D018810:Magnetic Resonance Angiography; D008297:Male; D010446:Peptide Fragments / Q000235:genetics; D011152:Popliteal Vein; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014682:Vena Cava, Inferior / Q000002:abnormalities*; D020246:Venous Thrombosis / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D010446:Peptide Fragments; C095381:factor V Leiden; C044183:prothrombin fragment 2; D005165:Factor V; D011516:Prothrombin