Inferior Vena Cava Agenesis and Deep Vein Thrombosis in the Young: A Review of the Literature and Local Experience

Antonella Tufano; Francesca Cannavacciuolo; Adriana Gianno; Anna Maria Cerbone; Sara Mangiacapra; Antonio Coppola; Maria Amitrano

doi:10.1055/s-0037-1603363

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2017; 43(08): 827-835
DOI: 10.1055/s-0037-1603363

Review Article

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Inferior Vena Cava Agenesis and Deep Vein Thrombosis in the Young: A Review of the Literature and Local Experience

Antonella Tufano

¹Regional Reference Centre for Coagulation Disorders, Department of Clinical Medicine and Surgery, Federico II University Hospital, Napoli, Italy

,

Francesca Cannavacciuolo

²Unit of Angiology, Department of Internal Medicine. AORN “G. Moscati,” Avellino, Italy

,

Adriana Gianno

¹Regional Reference Centre for Coagulation Disorders, Department of Clinical Medicine and Surgery, Federico II University Hospital, Napoli, Italy

,

Anna Maria Cerbone

¹Regional Reference Centre for Coagulation Disorders, Department of Clinical Medicine and Surgery, Federico II University Hospital, Napoli, Italy

,

Sara Mangiacapra

²Unit of Angiology, Department of Internal Medicine. AORN “G. Moscati,” Avellino, Italy

,

Antonio Coppola

¹Regional Reference Centre for Coagulation Disorders, Department of Clinical Medicine and Surgery, Federico II University Hospital, Napoli, Italy

,

Maria Amitrano

²Unit of Angiology, Department of Internal Medicine. AORN “G. Moscati,” Avellino, Italy

› Author Affiliations

Abstract

Congenital agenesis of the inferior vena cava (AIVC) is a rare vascular abnormality with a prevalence of 0.0005 to 1% in the general population. This condition is found in almost 5% of young patients (younger than 30 years) with proximal, typically bilateral, deep venous thrombosis (DVT) of the lower limbs, often in the absence of apparent risk factors. However, AIVC in young patients with DVT is probably underestimated because AIVC cannot be detected by the standard DVT diagnostic workup. Inherited thrombophilia has been reported in patients with AIVC-associated DVT, as an additional risk factor, but its role is poorly investigated. The best therapeutic strategy and the optimal duration of anticoagulant treatment of DVT in patients with AIVC are still unclear. Here, we describe 14 young patients (2 females and 12 males, mean age at first DVT: 27.8 ± 10.1 years), with color Doppler ultrasound (US) and abdominal computed tomography scan confirmed AIVC-associated DVT and discuss their characteristics in the framework of a literature review on this topic. Our patients were mainly males (10/12) and experienced proximal DVT events, not complicated by pulmonary embolism. DVT-precipitating factors were detected only in five cases, the two female patients (oral contraceptives and puerperium), and three male patients (one after leg fracture and two after abdominal surgery). Thrombophilic abnormalities were found in eight patients (heterozygous factor V Leiden mutation, n = 3; mild/moderate hyperhomocysteinemia, n = 3; reduced protein C activity, n = 1; antiphospholipid syndrome, n = 1). The majority of patients (13/14) were treated with long-term oral anticoagulant therapy and elastic stockings (ES), with a very low rate of DVT recurrence (1/14, mean follow-up 7 years). These clinical characteristics were largely consistent with those of 161 patients identified by review of the literature. On the whole, although many aspects are still poorly known, our case series and literature review suggest that a search should be undertaken for AIVC in young patients with proximal idiopathic, particularly when bilateral, DVT, which should then be treated with prolonged anticoagulation and ES.

Keywords

agenesis of inferior vena cava - deep vein thrombosis - thrombophilia - anticoagulation

Full Text

References

References
1 Sneed D, Hamdallah I, Sardi A. Absence of the retrohepatic inferior vena cava: what the surgeon should know. Am Surg 2005; 71 (06) 502-504
2 Spentzouris G, Zandian A, Cesmebasi A. , et al. The clinical anatomy of the inferior vena cava: a review of common congenital anomalies and considerations for clinicians. Clin Anat 2014; 27 (08) 1234-1243
3 Ruggeri M, Tosetto A, Castaman G, Rodeghiero F. Congenital absence of the inferior vena cava: a rare risk factor for idiopathic deep-vein thrombosis. Lancet 2001; 357 (9254): 441
4 Minniti S, Visentini S, Procacci C. Congenital anomalies of the venae cavae: embryological origin, imaging features and report of three new variants. Eur Radiol 2002; 12 (08) 2040-2055
5 Cho BC, Choi HJ, Kang SM. , et al. Congenital absence of inferior vena cava as a rare cause of pulmonary thromboembolism. Yonsei Med J 2004; 45 (05) 947-951
6 Gil RJ, Pérez AM, Arias JB, Pascual FB, Romero ES. Agenesis of the inferior vena cava associated with lower extremities and pelvic venous thrombosis. J Vasc Surg 2006; 44 (05) 1114-1116
7 Nanda S, Bhatt SP, Turki MA. Inferior vena cava anomalies-a common cause of DVT and PE commonly not diagnosed. Am J Med Sci 2008; 335 (05) 409-410
8 García-Fuster MJ, Forner MJ, Flor-Lorente B, Soler J, Campos S. Inferior vena cava malformations and deep venous thrombosis [in Spanish]. Rev Esp Cardiol 2006; 59 (02) 171-175
9 Malaki M, Willis AP, Jones RG. Congenital anomalies of the inferior vena cava. Clin Radiol 2012; 67 (02) 165-171
10 Chee Y-L, Culligan DJ, Watson HG. Inferior vena cava malformation as a risk factor for deep venous thrombosis in the young. Br J Haematol 2001; 114 (04) 878-880
11 Lambert M, Marboeuf P, Midulla M. , et al. Inferior vena cava agenesis and deep vein thrombosis: 10 patients and review of the literature. Vasc Med 2010; 15 (06) 451-459
12 Van Veen J, Hampton KK, Makris M. Kilt syndrome?. Br J Haematol 2002; 118 (04) 1199-1200
13 Sagban TA, Scharf RE, Wagenhäuser MU. , et al. Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis. Orphanet J Rare Dis 2015; 10: 3
14 Koc Z, Oguzkurt L. Interruption or congenital stenosis of the inferior vena cava: prevalence, imaging, and clinical findings. Eur J Radiol 2007; 62 (02) 257-266
15 Porter D, Rundback JH, Miller S. Sharp recanalization using a subintimal reentry device, angioplasty, and stent placement for severely symptomatic iliofemoral deep venous thrombosis secondary to congenital aplasia of the inferior vena cava. J Vasc Interv Radiol 2010; 21 (11) 1765-1769
16 Broholm R, Jørgensen M, Just S, Jensen LP, Bækgaard N. Acute iliofemoral venous thrombosis in patients with atresia of the inferior vena cava can be treated successfully with catheter-directed thrombolysis. J Vasc Interv Radiol 2011; 22 (06) 801-805
17 Nseir W, Mahamid M, Abu-Rahmeh Z, Markel A. Recurrent deep venous thrombosis in a patient with agenesis of inferior vena cava. Int J Gen Med 2011; 4: 457-459
18 La Spada M, Stilo F, Carella G. , et al. Thrombectomy and surgical reconstruction for extensive iliocaval thrombosis in a patient with agenesis of the retrohepatic vena cava and atresia of the left renal vein. Ann Vasc Surg 2011; 25 (06) 839.e1-839.e4
19 O'Connor DB, O'Brien N, Khani T, Sheehan S. Superficial and deep vein thrombosis associated with congenital absence of the infrahepatic inferior vena cava in a young male patient. Ann Vasc Surg 2011; 25 (05) 697.e1-697.e4
20 Ganguli S, Kalva S, Oklu R. , et al. Efficacy of lower-extremity venous thrombolysis in the setting of congenital absence or atresia of the inferior vena cava. Cardiovasc Intervent Radiol 2012; 35 (05) 1053-1058
21 Londra L, Tobler K, Wu J, Kolp L. Mayer-rokitansky-kuster-hauser syndrome associated with severe inferior vena cava stenosis. Case Rep Obstet Gynecol 2014; 2014: 745658
22 Lamparello BM, Erickson CR, Kulthia A, Virparia V, Thet Z. Congenital anomaly of the inferior vena cava and factor V Leiden mutation predisposing to deep vein thrombosis. Vasc Health Risk Manag 2014; 10: 609-613
23 Paddock M, Robson N. The curious case of the disappearing IVC: a case report and review of the aetiology of inferior vena cava agenesis. J Radiol Case Rep 2014; 8 (04) 38-47
24 Haskal ZJ, Potosky DR, Twaddell WS. Percutaneous endovascular creation of an inferior vena cava in a patient with caval agenesis, Budd-Chiari syndrome, and iliofemorocaval thrombosis. J Vasc Interv Radiol 2014; 25 (01) 63-69
25 Epperla N, Usoltseva N. Unprovoked deep venous thrombosis in a young adult associated with membranous obstruction of inferior vena cava. BMJ Case Rep 2014; 2014: bcr2014206214 . doi: 10.1136/bcr-2014-206214
26 Sitwala PS, Ladia VM, Brahmbhatt PB, Jain V, Bajaj K. Inferior vena cava anomaly: a risk for deep vein thrombosis. N Am J Med Sci 2014; 6 (11) 601-603
27 Alderman BE, de Boisanger J, Bottomley T. Hypoplasia of the inferior vena cava in a young man presenting with extensive deep venous thrombosis. BMJ Case Rep 2015; 2015: bcr2015211849 doi: 10.1136/bcr-2015-211849
28 Muscianese L, Seese RR, Graham W, Williams JH. Congenital atresia of the inferior vena cava and antithrombin III deficiency in a young adult: compounding risk factors for deep vein thrombosis. BMJ Case Rep 2015; 2015: bcr2014205729 doi: 10.1136/bcr-2014-205729
29 Reslan OM, Raffetto JD, Addis M, Sundick S. Congenital absence of inferior vena cava in a young patient with iliofemoral deep venous thrombosis treated with ultrasound-accelerated catheter-directed thrombolysis: case report and review of the literature. Ann Vasc Surg 2015; 29 (08) 1657.e9-1657.e15
30 Parsa P, Lane III JS, Barleben AR, Owens EL, Bandyk D. Congenital agenesis of inferior vena cava: a rare cause of unprovoked deep venous thrombosis. Ann Vasc Surg 2015; 29 (05) 1017.e15-1017.e18
31 Ali B, Ali Rana M, Langsfeld M, Marek J. A rare cause of claudication treated with IVC reconstruction: A case report. Int J Surg Case Rep 2015; 14: 69-71
32 Haddad RA, Saadaldin M, Kumar B, Bachuwa G. Deep Vein Thrombosis Provoked by Inferior Vena Cava Agenesis. Case Rep Vasc Med 2015; 2015: 651436
33 Koppisetty S, Smith AG, Dhillon RK. Incidental finding of inferior vena cava atresia presenting with deep venous thrombosis following physical exertion. Case Rep Emerg Med 2015; 2015: 146304
34 Bami S, Vazquez Y, Chorny V, Goldfisher R, Amodio J. Deep venous thrombosis of the leg, associated with agenesis of the infrarenal inferior vene cava and hypoplastic left kidney (KILT syndrome) in a 14-year-old child. Case Rep Pediatr 2015; 2015: 864047
35 Halparin J, Monagle P, Newall F. Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males. Thromb Res 2015; 135 (04) 648-651
36 Man L, Hendricks N, Maitland H. IVC agenesis: a rare cause of deep vein thrombosis. J Thromb Thrombolysis 2016; 41 (03) 541-543
37 Laurian C, Zaitouna M, Mallios A, Marteau V, Gigou F. A novel technique of ilio-portal venous bypass to relieve symptoms of pelvic vein congestion in a patient with inferior vena cava agenesis. Ann Vasc Dis 2016; 9 (01) 55-57
38 Smillie RP, Shetty M, Boyer AC, Madrazo B, Jafri SZ. Imaging evaluation of the inferior vena cava. Radiographics 2015; 35 (02) 578-592
39 Sánchez Fernández GL, Reiss UM, de Alarcón PA. Risk of thrombosis with anomalies of the inferior vena cava and factor V Leiden. Pediatr Blood Cancer 2008; 50 (03) 731
40 Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014; 11 (03) 140-156
41 De Stefano V, Chiusolo P, Paciaroni K, Leone G. Epidemiology of factor V Leiden: clinical implications. Semin Thromb Hemost 1998; 24 (04) 367-379
42 Sagban TA, Grotemeyer D, Balzer KM. , et al. Surgical treatment for agenesis of the vena cava: a single-centre experience in 15 cases. Eur J Vasc Endovasc Surg 2010; 40 (02) 241-245