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March/April - West Virginia State Medical Association

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Scientific Article |<br />

Congenital Absence of Inferior Vena Cava with<br />

Idiopathic Deep Vein Thrombosis in an Adult<br />

Deepak Hooda, MD, MPH<br />

Fellow, WVU Heart Institute, Morgantown<br />

Karthik Penumetsa, MD<br />

Resident, Department of Medicine, WVU, Morgantown<br />

Timothy Jackson, MD<br />

Section Chief, Associate Professor of Medicine (SOM),<br />

WVU, Morgantown<br />

Wissam Gharib, MD<br />

Associate Professor of Medicine (SOM), WVU Heart<br />

Institute, WVU, Morgantown<br />

Robert J. Beto, MD<br />

Associate Professor of Medicine (SOM), WVU Heart<br />

Institute,WVU, Morgantown,<br />

Bradford E. Warden, MD<br />

Program Director (Cardiology), Associate Professor of<br />

Medicine (SOM), WVU Heart Institute,WVU,<br />

Morgantown<br />

Acknowledgement: Masroor<br />

Abro MD, Fellow WVU Heart<br />

Institute, Morgantown WV.<br />

Corresponding Author: Deepak Hooda, MD MPH, 1<br />

stadium drive, WVU Hospitals, Morgantown WV 26506<br />

deepak.hooda@gmail.com.<br />

Introduction<br />

Deep vein thrombosis (DVT)<br />

is rare in younger patients, with<br />

a prevalence of 1:10,000. 1 In this<br />

patient population congenital<br />

absence of inferior vena cava<br />

(CAIVC) is an anomaly which<br />

has been recognized as a rare<br />

inherited risk factor for DVT. 2 Such<br />

patients are often asymptomatic<br />

and are diagnosed incidentally.<br />

In a young patient with a new DVT<br />

and no risk factors, it is important to<br />

consider congenital anomalies in the<br />

differential diagnoses. We describe<br />

a case of CAIVC and condition<br />

that is often underreported due<br />

to lack of diagnostic accuracy.<br />

except smoking noted gradual<br />

onset of lower back pain and<br />

bilateral lower limb swelling for<br />

the past four weeks. On arrival he<br />

was wheelchair bound. He had no<br />

family history of clotting disorders,<br />

congenital defects or autoimmune<br />

diseases. After admission he<br />

underwent extensive investigation<br />

including a hypercoagulopathy<br />

panel, prothrombinII gene<br />

mutation, Methylenetetrahydrofolate<br />

reductase(MTHFR) gene mutation,<br />

homocystein, factorV leiden<br />

mutation, Beta2 glycoprotein IgA/<br />

IgM, anticardiolipin IgG/IgM, lupus<br />

anticoagulant IgG/IgM, protein C&S<br />

antigen/functional levels, CD55&CD59<br />

antibodies and antithrombinIII<br />

antibodies. These tests were all<br />

negative. Subsequently a Doppler<br />

ultrasound of the lower limbs<br />

revealed extensive bilateral common<br />

femoral, superficial femoral,<br />

popliteal, posterior tibial and greater<br />

saphenous vein thromboses.<br />

A computed tomography (CT)<br />

scan of the abdomen/pelvis with<br />

intravenous contrast revealed<br />

thrombosis of the distal inferior<br />

vena cava (IVC) and iliac veins with<br />

a congenital absence of suprarenal<br />

and intrahepatic segments of<br />

the IVC (Fig1&2) with extensive<br />

collaterals and prominent ascending<br />

lumbar, perivertebral, azygous and<br />

hemiazygous venous systems. The<br />

patient was started on coumadin<br />

for long term anticoagulation.<br />

The patient was followed up in<br />

3 months and subsequently six<br />

months after hospitalization with<br />

complete resolution of symptoms<br />

and bilateral lower limbs swelling.<br />

Discussion<br />

DVT is rare in the young. It may<br />

occur due to underlying acquired<br />

Figure 1.<br />

CT chest abdomen pelvis sagittal view: absent segment of IVC (arrow).<br />

Case report<br />

A twenty-year-old athletic male<br />

with no relevant medical history<br />

28 <strong>West</strong> <strong>Virginia</strong> <strong>Medical</strong> Journal

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