Congenital absence of inferior vena cava with idiopathic deep vein thrombosis in an adult.
Deep vein thrombosis (DVT) is rare in younger patients, with a prevalence of 1:10,000. (1) In this patient population congenital absence of inferior vena cava (CAIVC) is an anomaly which has been recognized as a rare inherited risk factor for DVT. (2) Such patients are often asymptomatic and are diagnosed incidentally.
In a young patient with a new DVT and no risk factors, it is important to consider congenital anomalies in the differential diagnoses. We describe a case of CAIVC and condition that is often underreported due to lack of diagnostic accuracy.
A twenty-year-old athletic male with no relevant medical history except smoking noted gradual onset of lower back pain and bilateral lower limb swelling for the past four weeks. On arrival he was wheelchair bound. He had no family history of clotting disorders, congenital defects or autoimmune diseases. After admission he underwent extensive investigation including a hypercoagulopathy panel, prothrombinll gene mutation, Methylenetetrahydrofolate reductase(MTHFR) gene mutation, homocystein, factorV leiden mutation, Beta2 glycoprotein IgA/ IgM, anticardiolipin IgG/IgM, lupus anticoagulant IgG/IgM, protein C&S antigen/functional levels, CD55&CD59 antibodies and antithrombinIII antibodies. These tests were all negative. Subsequently a Doppler ultrasound of the lower limbs revealed extensive bilateral common femoral, superficial femoral, popliteal, posterior tibial and greater saphenous vein thromboses.
A computed tomography (CT) scan of the abdomen/pelvis with intravenous contrast revealed thrombosis of the distal inferior vena cava (IVC) and iliac veins with a congenital absence of suprarenal and intrahepatic segments of the IVC (Fig1&2) with extensive collaterals and prominent ascending lumbar, perivertebral, azygous and hemiazygous venous systems. The patient was started on coumadin for long term anticoagulation. The patient was followed up in 3 months and subsequently six months after hospitalization with complete resolution of symptoms and bilateral lower limbs swelling.
DVT is rare in the young. It may occur due to underlying acquired or hereditary risk factors. CAIVC is one such rare genetic risk factor. (3,4)
The development of the infrahepatic-IVC begins between 6-12 weeks of gestation. It involves a complex process comprising 3-pairs of embryogenic veins: posterior cardinal (iliac and confluent), subcardinal (renal and hepatic) and supracardinal (prerenal). Developmental disruptions may result in several variants of partial or complete IVC anomalies. (5)
CAIVC is often reported incidentally since most patients are asymptomatic due to the presence of extensive collateral veins. (6) Patients are more likely to be symptomatic in the presence of other associated anomalies such as congenital heart disease, asplenia, polysplenia or inversion of the bowel. (7)
The diagnostic accuracy of B-mode ultrasonography in CAIVC is limited secondary to its inability to evaluate noncompressible abdominal veins (especially in the retroperitoneal-space). (8) CT scan is a better screening method to better visualize the retroperitoneal space and collateral circulation.
Treatment for patients with CAIVC and DVT is still debatable. Surgical benefit was reported in only two cases. (7,9) Surgical Treatment for Agenesis of the Vena Cava is performed using various surgical approaches with thoraco-abdomino-inguinal incision (such as abdomino-inguinal, thoraco-abdominal and abdominal incision) and constructing arteriovenous fistula in the groin as described in (Diagram 1) creating various anastomoses:
i) Right iliac vein--left persistent IVC
i) Both iliac veins--IVC infrarenal
ii) Both iliac veins--IVC intrarenal
iii) Left iliac vein--right atrium
iv) Right iliac vein--right atrium
v) Both iliac veins--right atrium
vi) IVC-above confluence--IVC-at the level of the renal veins
vii) IVC--right atrium
The major complications are related to peri-op and post-op bleeding with good long term outcomes. The current recommendation is conservative medical management with lifelong anticoagulation using warfarin. (10,11)
In a young patient with DVT and no obvious risk factors, a Doppler ultrasound may not be sufficient. CT scan of the abdomen/pelvis may be indicated as a screening test to rule out congenital IVC anomalies.
Acknowledgement: Masroor Abro MD, Fellow WVU Heart Institute, Morgantown WV.
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(2.) Rosendaal FR.Venous thrombosis: a multicausal disease. Lancet.1999 Apr 3;353(9159):1167-73.
(3.) Ruggeri M, Tosetto A, Castaman G, Rodighiero F: Congenital absence of the inferior vena cava:a rare risk factor for idiopathic deep-vein thrombosis. Lancet. 2001 Feb10; 357(9254):441.
(4.) Chee YL, Dominic J, Watson CG, Watson HG: Inferior Vena Cava malformation as a risk factor for deep-venous thrombosis in the young. British Journal of Haematology. 2001:114:878-880.
(5.) Bass JE, Redvine MD, Kramer LA, Huynh PT, Harris JH: Spectrum of Congenital anomalies of the IVC: cross-sectional imaging findings. Radiographics. 2000 May-Jun;20(3):639-52.
(6.) Z Koc, MD, S Ulusan, MD, L Oguzkurt, MD and E Serin, MD: Symptomatic interrupted IVC: report of a case presenting with haematochezia. Br J Radiol. 2007Jun;80(954):e122-4.
(7.) Arash Mohammadi Tofigh, R. Coscas, F. Koskas and E. Kieffer: Surgical Management of Deep Venous Insufficiency Caused by Congenital Absence of the Infrarenal-IVC. Vascular and Endovascular Surgery. March 1,2008;42(1):58-61.
(8.) Javaid Iqbal, Eswarappa Nagaraju :CAIVC and thrombosis: a case report. JMedCaseReports. 2008 Feb 12;2:46.
(9.) Dougherty MJ, Calligaro KD, DeLaurentis DA.CAIVC presenting in adulthood with venous stasis and ulceration: a surgically treated case. JVascSurg. Jan 1996; 23 (1):141-6.
(10.) Yun SS, Kim JI, Kim KH, et al. DVT caused by CAIVC, combined with hyperhomocysteinemia. AnnVascSurg. 2004;18:124-9.
(11.) T.A. Sagban. Surgical Treatment for Agenesis of the Vena Cava: A Single-Centre Experience in 15 cases. Eur J Vasc Endovasc Surg. 2010; 40: 241-245.
Deepak Hooda, MD, MPH
Fellow, WVU Heart Institute, Morgantown
Karthik Penumetsa, MD
Resident, Department of Medicine, WVU, Morgantown
Timothy Jackson, MD
Section Chief, Associate Professor of Medicine (SOM), WVU, Morgantown
Wissam Gharib, MD
Associate Professor of Medicine (SOM), WVU Heart Institute, WVU, Morgantown
Robert J. Beto, MD
Associate Professor of Medicine (SOM), WVU Heart Institute,WVU, Morgantown,
Bradford E. Warden, MD Program Director (Cardiology), Associate Professor of Medicine (SOM), WVU Heart Institute, WVU, Morgantown
Corresponding Author: Deepak Hooda, MD MPH, 1 stadium drive, WVU Hospitals, Morgantown WV 26506 email@example.com.
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|Title Annotation:||Scientific Article|
|Author:||Hooda, Deepak; Penumetsa, Karthik; Jackson, Timothy; Gharib, Wissam; Beto, Robert J.; Warden, Bradfo|
|Publication:||West Virginia Medical Journal|
|Article Type:||Case study|
|Date:||Mar 1, 2013|
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