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

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.

Deep Venous Thrombosis and a Very Rare Finding: Inferior Vena Cava Infra-renal Segment Agenesis

“…Conservative therapy with anticoagulation, compression stockings and management of complications seem to be the mainstay of treatment, but invasive surgical interventions with an endovascular approach or even prosthetic replacement of the IVC have also been reported, with successful results [1,5] .…”

“…Congenital malformation and agenesis of the inferior vena cava (IVC) are extremely rare vascular anomalies, being present in only 0.0005–1% of the general population [1] . The absence of the infra-renal segment of IVC seems to be the rarest anomaly [2,3] , with KILT syndrome (kidney anomaly, IVC anomaly and leg thrombosis) also beingvery uncommon [1] . Frequently, these are incidental findings on imaging studies but have been reported during abdominal surgery or when difficulties arise during femoral catheterization.…”

Inferior vena cava filter misplacement in the right ovarian vein and successful removal by loop-snare technique in a patient with inferior vena cava agenesis

“…Given the rarity of IVC agenesis, there are no clinical trials to determine the best treatment strategy 5 . The mainstay of treatment is conservative; lifelong warfarin anticoagulation to prevent venous thrombosis or recurrence is recommended.…”

Inferior Vena Cava agenesis presenting as deep vein thrombosis in an eight year-old girl

“…The diagnosis of AVCI may be overlooked as ultrasonography might miss the diagnosis. High level of suspicion for AVCI and further investigation with CT/MRI angiography is needed in young patients with DVT, particularly bilateral, with or without the presence of other obvious cause for DVT [2,4]. There are two main hypotheses for the etiology of AVCI.…”

“…Three main types of AVCI have been described: agenesis of the suprarenal IVC, which is associated with cardiac and visceral anomalies (type 1), absence of the infrarenal IVC (type 2), and absence of the entire IVC, which results from failure in development of all three vein systems and is not associated with other congenital anomalies (type 3). According to the second hypothesis, AVCI is the result of intrauterine or perinatal thrombosis [1][2][3]6].…”