Cas clinique

DOI of or

Departmenpital, Dublin,

CorrespondSurgery, SainIrlande, E-ma

Ann Vasc Surghttp://dx.doi.or� Annals of V�Edit�e par ELS

Thrombose veineuse superficielle et profondeli�ee �a une absence cong�enitale de veine caveinf�erieure sous-h�epatique chez un jeunehomme

Donal B. O’Connor, Noel O’Brien, Tahir Khani, Stephen Sheehan, Dublin, Irlande

Rationnelle : L’absence cong�enitale de veine cave inf�erieure (AIVC) est une anomalie vas-culaire rare qui peut etre associ�ee �a des thromboses veineuses profondes (DVT). Elle estsous-rapport�ee et peut etre pr�esente chez jusqu’�a 5% des sujets jeunes ayant une DVT.Nous rapportons un cas isol�e de thrombose simultan�ee des veines superficielles et profondeschez un patient avec AIVC.M�ethodes et R�esultats : Un homme de 20 ans s’est pr�esent�e avec une histoire de deux semai-nes de membre inf�erieur gauche gonfl�e, douloureux. �A l’examen, la jambe et la cuisse gauches�etaient gonfl�ees et des varicosit�es �etaient pr�esentes le long de la paroi abdominale inf�erieure.L’�echo-D€oppler montrait une thrombose veineuse superficielle et profonde �etendue du membreinf�erieur gauche. Le phl�ebo-scanner montrait une AIVC sous-h�epatique avec un drainage dumembre inf�erieur par les veines azygos et h�emi-azygos dilat�ees. Le patient �etait mis sous trai-tement anticoagulant oral et allait bien avec un suivi de six mois.Conclusion : L’hypoth�ese d’une DVT chez les patients avec une AIVC est que le drainage vei-neux des membres inf�erieurs est insatisfaisant, avec une stase et une thrombose veineuses.Tous les jeunes patients se pr�esentant avec une DVT idiopathique devraient etre �etudi�espour des anomalies de la veine cave inf�erieure par tomodensitom�etrie si l’examen duplex nevisualise pas la veine cave inf�erieure.

Congenital absence of the inferior vena cava (AIVC)

is an uncommon but well described vascular ano-

maly. 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)

iginal article: 10.1016/j.avsg.2011.02.027.

t of Vascular Surgery, Saint Vincent’s University Hos-Irlande.

ence : Donal B O’Connor, MD, Department of Vasculart Vincent’s University Hospital, Elm Park, Dublin 4,il: donaloconor@yahoo.com

2011; 25: 697.e1-697.e4g/10.1016/j.acvfr.2012.07.001ascular Surgery Inc.EVIER MASSON SAS

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 pro-

gressive pain and swelling in his left lower limb. In parti-

cular, 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

743.e17

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 the lumbar vertebra (arrow heads); (C)

coronal reconstruction showing the enlarged intra-

thoracic azygous (arrow) and hemiazygous (white arrow)

veins; (D) the only portion of inferior vena cava present

at the liver (arrow head ). Azygous (arrow) and hemi-

azygous (white arrow) veins can be seen beside the aorta.

743.e18 Cas cliniques Annales de chirurgie vasculaire

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 fac-

tors for DVT. Suspecting a possible intra-abdominal mali-

gnancy, 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

its tributaries. This extended through collaterals into

superficial varicosities in the anterior abdominal wall

across the midline into the right long saphenous vein tri-

butaries (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 col-

lateral 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 infra-

hepatic 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 unfractiona-

ted heparin for 4 days, which facilitated complete sympto-

matic 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

Vol. 25, No. 5, 2011 Cas cliniques 743.e19

or acquired risk factors such as surgery or mali-

gnancy.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 published between 1960 and 2009 found

only 23 cases. This may be an underestimation

because conventional compression scanning ultra-

sonography may not always detect intra-abdominal

venous anomalies. 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 ges-

tation. The suprarenal portion is formed by the sub-

cardinal 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 infra-

renal 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 undetected

because a collateral deep venous system may be

sufficiently developed through the azygous and

hemiazygous systems to compensate for such ano-

malies. The hypothesis for DVT in patients with

AIVC is that despite these collaterals, venous drai-

nage 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 deve-

loped.7,8 Patients with DVT associated with AIVC

are significantly younger than those without ana-

tomical anomalies. The mean age in the previously

published 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

prominent 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 nor-

mal 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 agenesis rather

than an acquired defect. AIVC alone may be a suf-

ficient risk factor for DVT if collaterals are not suf-

ficiently 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 pre-

cipitated the clinical presentation in five cases.13-16

Additional congenital anomalies have been diag-

nosed 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 AIVC. It is possible that the initial thrombosis

occurred in the deep veins with secondary exten-

sion to the superficial system. The patient had signi-

ficant 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 collate-

rals as a consequence of AIVC, and these facilitated

the extension of thrombus to the right limb super-

ficial 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, andwill 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

without obvious risk factors should undergo abdo-

minal 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 fol-

low-up of patients, on or off treatment. Patients

743.e20 Cas cliniques Annales de chirurgie vasculaire

with extensive DVT should also be followed up cli-

nically 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 intrathoracic

azygous vein.8

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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