Deep venous thrombosis caused by inferior vena cava atresia and hereditary thrombophilia

Shelonitda S Rose1, Yaqoob Ali, Amit Kumar

  • 1Division of Hematology, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA. rosesh@umdnj.edu

Insights

Inferior vena cava (IVC) atresia, a congenital anomaly, is a risk factor for deep vein thrombosis (DVT) in young adults. Early diagnosis with advanced imaging and consideration of thrombophilia are crucial for managing recurrent DVT.

Area of Science:

  • Vascular Medicine
  • Radiology
  • Genetics

Background:

  • Inferior vena cava (IVC) atresia is an uncommon congenital anomaly that can predispose individuals to deep vein thrombosis (DVT).
  • Idiopathic DVT in young patients necessitates a thorough investigation into potential underlying causes, including congenital vascular abnormalities.

Observation:

  • This study presents two cases of young adults with lower extremity DVT attributed to IVC atresia.
  • One patient had multiple thrombophilic risk factors, while the other had a prothrombin gene mutation, an association not previously reported.

Findings:

  • Contrast-enhanced CT or MR angiography are essential for diagnosing IVC atresia and other congenital IVC anomalies.
  • IVC atresia, particularly when combined with hereditary thrombophilia, significantly increases the risk of recurrent DVT.

Implications:

  • Early identification of IVC atresia in young patients with idiopathic DVT is critical for appropriate management.
  • Patients with IVC atresia and thrombophilia may require long-term anticoagulation therapy to prevent recurrent thrombotic events.

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