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Semin Thromb Hemost 2007; 33(6): 582-587
DOI: 10.1055/s-2007-985754
Copyright © 2007 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Venous Thrombosis at Unusual Sites and the Role of Thrombophilia

Federico Lussana1 , 2 , Francesco Dentali3 , Walter Ageno3 , Pieter W. Kamphuisen1
  • 1Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  • 2Unit of Hematology and Thrombosis Department of Medicine, Surgery and Dentistry Ospedale San Paolo, University of Milano, Milano, Italy
  • 3Department of Clinical Medicine, University of Insubria, Varese, Italy
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Publication History

Publication Date:
04 September 2007 (online)

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ABSTRACT

Thrombophilia includes multiple inherited and acquired risk factors that determine a shift in the balance of procoagulant and anticoagulant factors promoting hypercoagulability, which is associated with an increased risk of venous thromboembolism (VTE). VTE is characterized by more common clinical manifestations, such as deep vein thrombosis of the lower limbs or pulmonary embolism, and less common clinical manifestations affecting cerebral, splanchnic, upper limbs, and retinal veins. The role of inherited thrombophilia in the pathogenesis of VTE at unusual sites is better established in cerebral vein thrombosis, but its role is less clear in splanchnic, upper limbs, and retinal vein thrombosis, in which acquired risk factors such as malignancy, central venous catheters, or systemic diseases also are frequently involved. The complex interactions between different inherited and acquired thrombophilic risk factors and their relationship with endothelium may be considered the pathophysiologic key of underlying phenotypic manifestations of thrombosis. The understanding of these mechanisms might facilitate diagnosis with appropriate investigations and improve therapeutic decision making.

KEYWORDS

Thrombophilia - thrombosis of the upper extremities - retinal vein occlusion - cerebral vein thrombosis - splanchnic vein thrombosis

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Federico LussanaM.D. 

Department of Vascular Medicine, Academic Medical Center, University of Amsterdam

Meibergdreef 9 1105 AZ Amsterdam, The Netherlands

Email: federico.lussana@ao-sanpaolo.it