Hereditary and acquired thrombophilia in patients with upper extremity deep-vein thrombosis

Summary

The prevalence of coagulation disorders in patients with upper extremity deep-vein thrombosis (UE-DVT) is unknown due to only a few observational studies of limited size reporting varying results. Therefore, we aimed to evaluate the prevalence of thrombophilia in patients with UE-DVT compared to patients with lower extremity deep vein thrombosis (LE-DVT). One hundred fifty consecutive patients (15 to 91 years of age) with UE-DVT were recruited from the MAISTHRO (MAin-ISar-THROmbosis) registry. Three hundred LE-DVT patients matched for gender and age served as controls. Thrombophilia screening included tests for the factor V Leiden mutation, the prothrombin G20210A mutation, antiphospholipid antibodies and factor VIII (FVIII), protein C, protein S and antithrombin activities. At least one thrombophilia was present in 34.2% of UE-DVT and 39.2% in UE-DVT that was unrelated to venous catheters relative to 55.3% in LE-DVT patients (p<0.001). In particular, a persistently elevated FVIII is less likely to be found in UE-DVT patients than in those with LE-DVT and is the only thrombophilia that is differentially expressed after controlling for established VTE risk factors [OR 0.46, (95% CI 0.25–0.83)]. Although less prevalent than in LE-DVT patients, thrombophilia is a common finding in patients with UE-DVT, especially in those with thrombosis that is unrelated to venous catheters.

Keywords

Upper extremity DVT - thrombophilia - factor VIII - venous catheters - malignancy

• References

• 1 Spencer FA, Emery C, Lessard D, Goldberg RJ, for the, Worcester Venous, Thromboembolism Study. Upper extremity deep vein thrombosis: a community-based perspective. Am J Med 2007; 120: 678-684.
• 2 Zell L, Kindermann W, Marschall F. et al. Paget-Schroetter syndrome in sports activities. Case study and literature review. Angiology 2001; 52: 337-342.
• 3 van Stralen KJ, Blom JW, Doggen CJM. et al. J Thromb Haemost. 2005; 03: 2110-2111.
• 4 Parziale JR, Akelman E, Weiss AC. et al. Thoracic outlet syndrome. Am J Orthoped 2000; 29: 353-360.
• 5 Joffe HV, Goldhaber SZ. Upper-extremity deep vein thrombosis. Circulation 2002; 106: 1874-1880.
• 6 Blom JW, Doggen CJM, Soanto S. et al. Old and new risk factors for upper extremity deep venous thrombosis. J Thromb Haemost 2005; 03: 2471-2478.
• 7 Chan WS, Ginsberg JS. A review of upper extremity deep vein thrombosis in pregnancy: unmasking the ‘ART’ behind the clot. J Thromb Haemost 2006; 04: 1673-1677.
• 8 Bauersachs RM, Manolopoulos K, Hoppe I. et al. More on: the ‘ART’ behind the clot: solving the mystery. J Thromb Haemost 2007; 05: 438-439.
• 9 Hendler MF, Meschengieser SS, Blanco AN. et al. Primary upper-extremity deep vein thrombosis: high prevalence of thrombophilic defects. Am J Hematol 2004; 76: 330-337.
• 10 Martinelli I, Cattaneo M, Panzeri D. et al. Risk factors for deep venous thrombosis of the upper extremities. Ann Intern Med 1997; 126: 707-711.
• 11 Prandoni P, Polistena P, Bernardi E. et al. Upper-extremity deep vein thrombosis. Risk factors, diagnosis, and complications. Arch Intern Med 1997; 157: 57-62.
• 12 Lindhoff-Last E, Bauersachs R, Jesgarz J. et al. The german thrombophilia registry. Ann Hematol 2001; 80 (Suppl. 01) A43.
• 13 van Rooden CJ, Tesselaar MET, Osanto S. et al. Deep vein thrombosis associated with central venous catheters - a review. J Thromb Haemost 2005; 03: 2409-2419.
• 14 Baarslag HJ, Koopman MMW, Reekers JA. et al. Diagnosis and management of deep vein thrombosis of the upper extremity: a review. Eur Radiol 2004; 14: 1263-1274.
• 15 Linnemann B, Schindewolf M, Zgouras D. et al. Are patients with thrombophilia and previous venous thromboembolism at higher risk to arterial thrombosis?. Thromb Res 2008; 121: 743-750.
• 16 Brandt JT, Triplett DA, Alving B, Scharrer I. Criteria for the diagnosis of lupus anticoagulants: an update. On behalf of the Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibody of the Scientific and Standardisation Committee of the ISTH. Thromb Haemost 1995; 74: 1185-1190.
• 17 Miyakis S, Lockshin MD, Atsumi T. et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 04: 295-306.
• 18 Bombeli T, Basic A, Fehr J. Prevalence of hereditary thrombophilia in patients with thrombosis in different venous systems. Am J Hematol 2002; 70: 126-132.
• 19 Heron E, Lozinguez O, Alhenc-Gelas M. et al. Hypercoagulable states in primary upper-extremity deep vein thrombosis. Arch Intern Med 2000; 160: 382-386.
• 20 Martinelli I, Battaglioli T, Bucciarelli P. et al. Risk factors and recurrence of primary deep vein thrombosis of the upper extremities. Circulation 2004; 110: 566-570.
• 21 Ruggeri M, Castaman G, Tosetto A. et al. Low prevalence of thrombophilic coagulation defects in patients with deep vein thrombosis of the upper limbs. Blood Coagul Fibrinolysis 1997; 08: 191-194.
• 22 Leebeek FWG, Stadhouders NAM, van Stein D. et al. Hypercoagulability states in upper-extremity deep venous thrombosis. Am J Hematol 2001; 67: 15-19.
• 23 Kamphuisen PW, Eikenboom JCJ, Bertina RM. Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol 2001; 21: 731-738.
• 24 Bank I, van de Poel HW, Coppens M. et al. Absolutes annual incidences of first events of venous thromboembolism and arterial vascular events in individuals with elevated FVIII:c. Thromb Haemost 2007; 98: 1040-1044.
• 25 Munoz FJ, Mismitti P, Poggio R. et al. for the RIETE investigators Clinical outcome of patients with upper-extremity deep vein thrombosis. Results from the RIETE registry. Chest 2008; 133: 143-148.
• 26 Constans J, Salmi LR, Sevestre-Pietri MA. et al. A clinical prediction score for upper extremity deep venous thrombosis. Thromb Haemost 2008; 99: 202-207.
• 27 Seddighzadeh A, Shetty R, Goldhaber SZ. Venous thromboembolism in patients with active cancer. Thromb Haemost 2007; 98: 656-661.
• 28 Anderson FA, Spencer FA. Risk factors for venous thromboembolism. Circulation. 2003 107. I-9-I-16.
• 29 Schambeck CM, Bruhn HD, Schambeck CM, Hach-Wunderle V. ämostaseologie für die Praxis. Schattauer, Stuttgart; Germany: 2007
• 30 Joffe HV, Kucher N, Tapson VF. et al. Upper-extremity deep vein thrombosis: a prospective registry of 592 patients. Circulation 2004; 110: 1605-1611.
• 31 Hughes ES. Venous obstruction in upper extremity (Paget-Schroetter’s syndrome). Review of 320 cases. Int Abstr Surg 1949; 88: 89-127.
• 32 Ellis MH, Manor Y, Witz M. Risk factors and management of patients with upper limb deep vein thrombosis. Chest 2000; 117: 43-49.
• 33 Vayá A, Mira Y, Mateo J. et al. Prothrombin G20210A and oral contraceptive use increase upper-extremity deep vein thrombotic risk. Thromb Haemost 2003; 89: 452-458.