Congenital inferior vena cava hypoplasia and mutiple venous thrombosis possibly caused by inherited coagulopathies disorders

Abstract

Introduction: Inferior Vena Cava(IVC) hypoplasia is a rare anomaly that may be Associated with Deep Venous Thrombosis(DVT), particularly in pediatric patients. However, this case is special due to association of multiple venous malformations, renal agenesis, deep vein thrombosis and pulmonary embolism (PE) with late diagnosis at a child with inherited thrombophilia. Clinical case: This paper reports the case of a 10 year-old-female patient, who was hospitalised for dispneea, loss of weight and asthenia. No risk factors for deep venous thrombosis were evident, in particular, no immobilization, surgery, known coagulopathy, or family history. Phisical examination revealed dulness to percution and diminished breath sounds of the right hemithorax, abdominal distension with presence of shifting dullness. Labs results showed, microcytic anemia(Hb=10.2 g/dl), inflammatory syndrome(ESR=30 mm/h) and normal-range coagulation parameters. Imaging was performed (chest x ray, followed by abdominal ultrasound, CT, echocardiography), revealing: pleural effusion, free intraperitoneal fluid, hepatomegaly, left pulmonary artery thrombus, interruption of the IVC with azygos-like continuation containing thrombus, right renal vein plexiform malformation with thrombi, cavernoma of the portal vein, right renal infarction, left renal agenesis. Thrombophilia profile: mutations of MTHFR C677T, PAI1 4g/5g, EPCR-G4678C and factor XIII V34L.Treatment: anticoagulation indefinitely at target INR 2-3 Discussions: The exact role of coexisting thrombophilic gene mutations is far from being completely understood. There have been reported in english literature 62 patients with IVC agenesis and DVT with typical caracteristics. Also, we found that IVC malformation in association with thrombophilia it's an infrequent condition. Conclusion: DVT and PE should be included in differential diagnoses even at pediatric ages. We should keep in mind these associations, coagulopathies beeing possible causes of various malformations. With the new imaging techniques, these anomalies can be diagnosed non-invasively. The absence of IVC segments can be discovered incidentaly or as a result of a thrombotic event. In this case, because of the additive risk of coagulopathy and venous malformations, careful prophylaxis for recurrent DVT after treatment of complications is recommended lifelong.