Pulmonary embolism and inferior vena cava agenesis: An unusual association

Background: Inferior vena cava agenesis is a rare congenital anomaly, generally associated with thrombophilic conditions, and a predisposing factor for deep venous thrombosis (DVT), rarely complicated by pulmonary embolism, in a young population with atypical clinical features and frequent absence of risk factors.

Methods: We report the case of a 30-year-old woman who developed a right iliac DVT, initially presenting as a low back pain and complicated by a pulmonary embolism, 8 months after a sleeve gastrectomy. Chest CT angiography revealed abnormalities that led to the diagnosis of inferior vena cava agenesis. Thrombophilic screening showed a heterozygous prothrombin gene mutation G20210A and hyperhomocysteinemia. The patient was treated with rivaroxaban with good results after 2 years of follow-up.

Conclusions: In young patients without risk factors developing a deep venous thrombosis, an inferior vena cava anomaly should be considered. Although no therapeutic consensus has been currently established, inferior vena cava agenesis seems to be associated with a high prevalence of thrombophilic disorders. Screening could be useful, particularly in patients with a thrombotic family history.