Congenital absence of the infrahepatic segment of the inferior vena cava with deep venous thrombosis in an 8.5‐year‐old boy

Abstract

Key words deep vein thrombosis, inferior vena cava malformation, thrombophilia.In a recent study, the prevalence of interruption or congenital stenosis of the inferior vena cava (IVC) was found to be 0.15%. 1 Embryological formation of IVC occurs between the fourth and eighth weeks of gestation; this period coincides with the development of most organs (spleen, liver, heart, and lungs). Thus, it is not surprising to have asplenia, polysplenia, situs inversus, congenital heart disease, lung and kidney malformation associated with IVC anomalies. 2 The IVC is formed of four segments (in a caudal direction: hepatic, suprarenal, renal and infrarenal). These segments are formed by complex embryological processes involving the formation, fusion and regression of three main paired primitive veins called cardinal veins. Failure of proper development of one or all of these events leads to several congenital anomalies; one of these is the congenital absence of IVC (AIVC). It may be the entire IVC or one of its segments. 2 It is also suggested that absence of the infrarenal segment of the IVC is not embryonic in origin, rather the result of intrauterine or perinatal thrombosis. 3,4 The prevalence of AIVC in deep venous thrombosis (DVT) is about 5%. 5,6 Approximately 90% of previously reported cases involved the absence of the suprarenal segment and 6% involved the renal or infrarenal segment. The combined absence of the suprarenal and infrarenal segments (infrahepatic) is so rare that only 10 cases were reported in the English-language literature prior to 2002. 3 We present a patient who developed right iliofemoral thrombosis at the age of 8.5 years and was found to have this rare infrahepatic AIVC on computed tomography (CT) of the abdomen and magnetic resonance venography. There was no recurrence 16 months after discontinuing the anticoagulant treatment.To the best of our knowledge, this patient is one of the youngest patients reported to develop unprovoked DVT in association with infrahepatic AIVC. Case reportThe patient is currently 10.5 years old. He was seen at the age of 8.5 years because of painful swelling involving the whole right lower limb over a few hours before admission. The skin looked bluish-red and slightly tender. The popliteal arteries and dorsalis pedis arteries felt well in both lower limbs. There was no history of preceding trauma, strenuous exercise, high fever, severe vomiting or diarrhea. There was no family history of venous thrombosis or suggestive of a hypercoagulable state.The patient is the product of in vitro fertilization because of primary infertility for 11 years. It was a twin pregnancy. Delivery was by cesarean section at 36 weeks of gestation because of maternal gestational diabetes. Our patient weighed 1.3 kg at birth, while his co-twin weighed 2.5 kg. Our patient was admitted to the neonatal ward for extreme low birthweight with Apgar scores of 6 and 9 at 1 and 5 min, respectively. Reviewing his chart, he did very well in the neonatal ward and did not develop sepsis, respiratory dist...

Absence of inferior vena cava in 14-year old boy associated with deep venous thrombosis and positive Mycoplasma pneumoniae serum antibodies- a case report

“…AIVC is a rare vascular anomaly and the risk factor for deep venous thrombosis, that occurs predominantly in young adults [ 1 , 2 ]. There are only few descriptions of DVT due to AIVC presentation in children [ 4 - 7 ]. M. pneumoniae infection, popular among school children, might contribute to hypercoagulability and cause thrombosis itself.…”

“…Because the immature coagulation system is not promoting thrombosis, AIVC usually remains asymptomatic in children, manifesting in the early adults, especially in presence of thrombosis risk factors [ 3 ]. Some reports describe cases of DVT due to IVC anomalies in children and adolescents [ 4 - 7 ]. There is no standard management strategy established for patients with DVT due to AIVC.…”

Bilateral Deep Vein Thrombosis Associated with Inferior Vena Cava Agenesis in a Young Patient Manifesting as Low Back Pain

“…Therefore, this condition should be suspected in any young patient presenting with lower limb DVT even in the absence of additional risk factors. 3,8,[11][12][13] Another interesting feature is the pattern of pain reported by our patient. Most cases of bilateral DVT manifested acutely either as lower extremity pain, edema, and erythema or as localized low back pain, which was unilateral in many patients despite bilateral thrombosis.…”

“…Unilateral flank pain may be mistaken for renal diseases by the attending physician, whereas bilateral low back pain without accompanying signs of thrombosis can pose a diagnostic challenge, as discussed previously. 12 The best approach to avoid diagnostic pitfalls consists of having a high index of suspicion, confirming the diagnosis of DVT with US, and identifying the IVC anomaly through CT or MRI scans as appropriate.…”

“…Nevertheless, maintenance of lifelong anticoagulation is controversial and has been recently challenged by the finding that patients with IVC anomalies do not seem to have a higher risk of DVT recurrence after withdrawal of anticoagulant 14 ; even so, many authors still support long-term anticoagulation, particularly if additional risk factors for thrombosis are present. 12 Nonpharmacologic and universally recommended preventive measures include use of compression stockings and lifestyle adjustment for reducing the bleeding risk while under anticoagulation therapy. Surgical intervention employing thrombectomy and bypass grafts are warranted only for those patients with rapid deterioration of chronic venous insufficiency and for those presenting with DVT and concomitant collapse of the collateral venous drainage.…”