Thrombophilia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2]

Overview

Thrombophilia is a prothrombotic state due to an underlying process. Inherited thrombophilias must be differentiated from acquired thrombophilias, as it may influence the selection and duration of anticoagulation. Inherited thrombophilias should be suspected in patients with the certain clinical presentations.[1][2] Screening for inherited thrombophilias is controversial and should be performed in the appropriate clinical context.[3]

Differential Diagnosis

  • Thrombophilia is a prothrombotic state due to an underlying process
  • Inherited thrombophilias must be differentiated from acquired thrombophilias, as it may influence the selection and duration of anticoagulation
  • Inherited thrombophilias must be differentiated from other diseases that cause the following clinical presentations:[1][2]
    • Family history of thrombosis, especially at an early age (< 45 years)
    • Unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis)
    • Recurrent thrombosis including Deep venous thrombosis, Pulmonary embolus, or superficial venous thrombosis
    • Thrombosis at multiple sites, or unusual locations including in cerebral, hepatic, portal, mesenteric, and renal veins
    • Thrombosis in arteries with the abscence of arterial disease
    • History of fetal loss
    • History of warfarin skin necrosis

References

  1. 1.0 1.1 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
  2. 2.0 2.1 Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
  3. Middeldorp S (2011). "Evidence-based approach to thrombophilia testing". J Thromb Thrombolysis. 31 (3): 275–81. doi:10.1007/s11239-011-0572-y. PMC 3056012. PMID 21340752.

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