Superficial and Deep Vein Thrombosis

Associated With Congenital Absence of the

Infrahepatic Inferior Vena Cava in a Young
Male Patient
Donal B. O’Connor, Noel O’Brien, Tahir Khani, and Stephen Sheehan, Dublin, Ireland

Background: Congenital absence of the inferior vena cava (AIVC) is a rare vascular anomaly
that may be associated with deep vein thrombosis (DVT). It is underreported and may be
present in up to 5% of young patients with DVT. We report a unique case of simultaneous throm-
bosis of both superficial and deep veins in a patient with AIVC.
Methods and Results: A 20-year-old man presented with a 2-week history of a swollen, pain-
ful, left lower limb. On examination, the left leg and thigh were found to be swollen and varicos-
ities were present along the lower abdominal wall. Ultrasound showed extensive superficial and
deep venous thrombosis of the entire left lower limb. Computed tomography venogram revealed
an infrahepatic AIVC with lower limb drainage through enlarged intrathoracic continuations of the
azygous and hemiazygous veins. The patient was put on oral anticoagulant therapy and was
well at 6-month follow-up.
Conclusion: The hypothesis for DVT in patients with AIVC is that venous drainage of the lower
limbs is inadequate, leading to venous stasis and thrombosis. All young patients presenting with
idiopathic DVT should be investigated for inferior vena cava anomalies with computed tomog-
raphy if ultrasound does not visualize the inferior vena cava.

Congenital absence of the inferior vena cava (AIVC)
is an uncommon but well described vascular
anomaly. It may present as deep vein thrombosis
(DVT) or be diagnosed as an incidental finding on
computed tomography (CT) or magnetic resonance
imaging (MRI). It is a rare risk factor for DVT but
may be underreported because ultrasound (US)
may not be sufficient for diagnosis in some patients.
We report a unique case of AIVC presenting with
concurrent superficial and DVT.
CASE REPORT
A 20-year-old male building laborer presented to the
emergency department with a 2-week history of
Department of Vascular Surgery, Saint Vincent’s University
Hospital, Dublin, Ireland.
Correspondence to: Donal B O’Connor, MD, Department of Vascular
Surgery, Saint Vincent’s University Hospital, Elm Park, Dublin 4,
Ireland, E-mail: donaloconor@yahoo.com
Ann Vasc Surg 2011; 25: 697.e1-697.e4
DOI: 10.1016/j.avsg.2011.02.027
Ó Annals of Vascular Surgery Inc.
progressive pain and swelling in his left lower limb. In
particular, he complained of pain and tenderness in the
left groin. The patient had never had these symptoms
before and had no history of varicose veins or venous
ulceration. He had no other medical or surgical history
and was not taking any medications. On examination,
the left leg and thigh were found to be swollen. There
were prominent tortuous palpable veins over the lower
abdomen and both left and right groins. There was
bruising and tenderness overlying the groin veins. DVT
was diagnosed clinically and duplex ultrasonography
demonstrated extensive thrombosis of the long saphenous
vein superficially and DVT in the popliteal, femoral, and
iliac veins on the left side. The patient’s history showed
no identifiable risk factors for DVT. Suspecting a possible
intra-abdominal malignancy, a CT scan of the abdomen
was ordered. No masses were identified but, unusually,
the inferior vena cava (IVC) was not identified and a CT
venogram was arranged.
CT venogram revealed left lower limb DVT extending
from the medial and lateral plantar veins in the foot into
the calf, popliteal, superficial femoral, deep femoral,
common femoral, and iliac veins. The thrombus extended
into the lumbar veins adjacent to L4 vertebra. Thrombus
was seen throughout the left long saphenous vein and

697.e1
697.e2 Case reports
its tributaries. This extended through collaterals into
superficial varicosities in the anterior abdominal wall
across the midline into the right long saphenous vein
tributaries (Fig. 1A). There was a complete AIVC below
the liver (Fig. 1B). However, no DVT was identified on
the right; the right iliac veins were hypoplastic. Multiple
collateral veins were identified within the erector spinae
muscles and surrounding the lumbar vertebrae
(Fig. 1B). Large intrathoracic continuations of the azygous
and hemiazygous veins were another striking finding
(Fig. 1C). The lower limbs appeared to be draining via
multiple pelvic and lumbar collaterals to these azygous
and hemiazygous systems. The renal veins were also
draining to the azygous and hemiazygous veins. The
hepatic veins were the only section of IVC present at the
liver (Fig. 1D). No cardiac or abdominal visceral anomalies
were identified. There was no evidence of any infrahe-
patic IVC remnant or central vein thrombosis, and we
concluded that the patient had developed superficial and
deep venous thrombosis secondary to a congenital
absence of the IVC.
A thrombophilia screen was negative as was a JAK2
mutation test. The patient was treated with unfractio-
nated heparin for 4 days, which facilitated complete
symptomatic relief. He was put on warfarin therapy for
6 months and recommended to wear thromboembolic
deterrent stockings permanently. The patient was well at
6-month follow-up, with no evidence of recurrent DVT
or lower limb venous ulceration.
DISCUSSION
DVT is a common clinical presentation but is usually
attributed to congenital coagulation abnormalities
or acquired risk factors such as surgery or malig-
nancy.1 The incidence is 1 per 1,000 patient-years,
but this is believed to be even less in those aged
<40 years.2 As a risk factor for DVT, AIVC is believed
to be very rare. A Medline search of reports pub-
lished between 1960 and 2009 found only 23 cases.
This may be an underestimation because conven-
tional compression scanning ultrasonography may
not always detect intra-abdominal venous anoma-
lies. Three studies have reported the incidence of
AIVC to be as high as 5% in patients of age <40 years
presenting with ‘‘idiopathic’’ DVT.3-5
The IVC develops between weeks 6 and 8 of
gestation. The suprarenal portion is formed by the
subcardinal veins and the infrarenal portion by the
supracardinal veins. Aberrant development during
this period may result in IVC anomalies, including
AIVC. Absence of the suprarenal IVC is the more
common abnormality, whereas absence of the
infrarenal or entire infrahepatic, as in the case of
this patient, accounts for only 6% of all cases of
AIVC.6 AIVC may remain asymptomatic and unde-
tected because a collateral deep venous system may
Annals of Vascular Surgery
be sufficiently developed through the azygous and
hemiazygous systems to compensate for such anom-
alies. The hypothesis for DVT in patients with AIVC
is that despite these collaterals, venous drainage of
the lower limbs is inadequate leading to venous
stasis and thrombosis.
Some common features of the clinical presenta-
tion of AIVC have been identified from reviewing
previously published cases. The majority of cases
presented clinically as proximal DVT involving the
iliac and femoral veins. In two cases, venous ulcera-
tion secondary to chronic stasis without DVT devel-
oped.7,8 Patients with DVT associated with AIVC are
significantly younger than those without anatom-
ical anomalies. The mean age in the previously pub-
lished data is 30 years, as compared with 60 years in
a large study of DVT in medical patients.9 More than
half of the cases involved bilateral DVT, which is
higher than expected, particularly because no case
of AIVC to date has been associated with underlying
malignancy. As in the case of the patient presented
in this study, in cases of AIVC, lumbar and spinal
collaterals draining the iliac veins, usually, to prom-
inent azygous and hemiazygous veins, are often
seen on abdominal imaging. There have been three
reports of pulmonary embolus associated with
AIVC. It is hypothesized that enlarged azygous or
hemiazygous veins could act as conduits for emboli
to the pulmonary circulation.10-12
Thrombophilic disorders have been diagnosed in
approximately one-third of cases.13,14 It has been
suggested that AIVC is not because of a congenital
anomaly but instead occurs secondary to a perinatal
thrombosis causing regression of a previously
normal IVC.15 There was no evidence for this in
our patient’s history or radiology. The absence of
any clotting defects or other predisposing history
in both our patient and in other cases3 supports
the theory that AIVC can be a true congenital agen-
esis rather than an acquired defect. AIVC alone may
be a sufficient risk factor for DVT if collaterals are not
sufficiently developed to facilitate adequate blood
return leading to increased pressure and venous
stasis. Physical exertion has been identified as
a risk factor for DVT in patients with AIVC and
precipitated the clinical presentation in five
cases.13-16 Additional congenital anomalies have
been diagnosed in five patients with AIVC and
involved aplasia or hypoplasia of the right kidney.17
This association can be explained by embryogenesis
because the IVC drains the right metanephros and
therefore, complete or partial IVC absence could
affect renal development.
To our knowledge, this is the first reported case of
simultaneous superficial and DVT associated with
Vol. 25, No. 5, July 2011
Fig. 1. Contrast-enhanced computed tomography showing
(A) thrombus in the left long saphenous vein (arrow), left
femoral vein (arrow head ), and the right long saphenous
vein tributaries (white arrow); (B) complete absence of the
infrahepatic inferior vena cava besides the aorta (arrow
pointing to aorta). Enlarged collateral veins are seen around
AIVC. It is possible that the initial thrombosis
occurred in the deep veins with secondary exten-
sion to the superficial system. The patient had signif-
icant thrombus in the common femoral vein.
Occlusion of the saphenofemoral junction likely
precipitated the extension of thrombus into the
long saphenous vein and tributaries. This superficial
thrombosis was particularly symptomatic. The
patient developed anterior abdominal wall collat-
erals as a consequence of AIVC, and these facilitated
the extension of thrombus to the right limb superfi-
cial veins.
US is the investigation of choice for any patient
with suspected DVT and can help visualize the iliacs
and intra-abdominal IVC. However, it may not
always permit examination of the retroperitoneal
veins, especially in obese patients, and will therefore
miss some cases of AIVC. CT or magnetic resonance
imaging can readily diagnose AIVC.12,18 We would
like to propose that all patients with proximal DVT
Case reports 697.e3
the lumbar vertebra (arrow heads); (C) coronal reconstruc-
tion showing the enlarged intrathoracic azygous (arrow)
and hemiazygous (white arrow) veins; (D) the only portion
of inferior vena cava present at the liver (arrow head ).
Azygous (arrow) and hemiazygous (white arrow) veins can
be seen beside the aorta.
without obvious risk factors should undergo abdom-
inal CT venogram to exclude AIVC if US has not
adequately demonstrated the IVC. Patients should
also be screened for thrombophilic disorders.
Oral anticoagulation is recommended for all
patients, but there is no evidence regarding optimal
duration of treatment. Patients have been treated
for 6-24 months without recurrence after 2 years
of follow-up.3,5 However, there have been two
reports of DVT recurrence after 1 and 2 years of
therapy.12 There are no studies with long-term
follow-up of patients, on or off treatment. Patients
with extensive DVT should also be followed up clin-
ically in case they develop stasis ulcers.
To date, surgical management has been reserved
for the treatment of nonhealing ulcers. The two
successfully managed cases involved prosthetic
reconstruction of an absent infrarenal IVC7 and
a prosthetic graft bypass from the iliac to intratho-
racic azygous vein.8
697.e4 Case reports
Although rare, AIVC should be considered in all
younger patients with DVT in the absence of predis-
posing risk factors. Such patients require investiga-
tion with abdominal CT if the IVC is not visualized
with US.
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