Congenital anomaly of the inferior vena cava and factor V Leiden mutation predisposing to deep vein thrombosis

Vasc Health Risk Manag. 2014 Nov 4:10:609-13. doi: 10.2147/VHRM.S66283. eCollection 2014.

Abstract

A previously healthy 21-year-old man presented with back pain, bilateral extremity pain, and right lower extremity weakness, paresthesias, and swelling. Sonographic examination revealed diffuse deep vein thrombosis (DVT) in the femoral and popliteal venous system. CT imaging revealed hypoplasia of the hepatic inferior vena cava (IVC) segment with formation of multiple varices and collateral veins around the kidneys. Hematologic workup also discovered a factor V Leiden mutation, further predisposing the patient to DVT. The rare, often overlooked occurrence of attenuated IVC, especially in the setting of hypercoagulable state, can predispose patients to significant thrombosis.

Keywords: deep vein thrombosis (DVT); inferior vena cava (IVC); lower extremities; thrombophilic; venography.

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Activated Protein C Resistance / complications*
  • Activated Protein C Resistance / diagnosis
  • Activated Protein C Resistance / drug therapy
  • Activated Protein C Resistance / genetics
  • Anticoagulants / therapeutic use
  • DNA Mutational Analysis
  • Factor V / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation*
  • Phlebography / methods
  • Predictive Value of Tests
  • Risk Factors
  • Tomography, X-Ray Computed
  • Ultrasonography
  • Vascular Malformations / complications*
  • Vascular Malformations / diagnosis
  • Vena Cava, Inferior / abnormalities*
  • Vena Cava, Inferior / diagnostic imaging
  • Venous Thrombosis / diagnosis
  • Venous Thrombosis / drug therapy
  • Venous Thrombosis / etiology*
  • Venous Thrombosis / genetics
  • Young Adult

Substances

  • Anticoagulants
  • factor V Leiden
  • Factor V

Supplementary concepts

  • Thrombophilia due to Activated Protein C Resistance