Thrombophilia history and symptoms

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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] Jaspinder Kaur, MBBS[3]


A positive family history of thrombosis and individual recurrent thrombosis history is suggestive of inherited thrombophilias. Thrombophilia screening may be beneficial in these scenarios.[1][2][3]

History and Symptoms

  • Clinical history:[4]
    • A detailed history consisting of demographics, family history, assessment of risk factors and physical symptoms followed by a standard physical examination is required to differentiate between provoked and unprovoked thromboembolism. A provoking factor is present in up to 70% of patients suffering from venous thromboembolism (VTE).
    • One in three patients reports a positive family history predicting the underlying inherited thrombophilia. Hence, patients should be asked specifically if they have a personal history of venous thromboembolism or a family history of venous thrombosis. [5]
    • Additional acquired risk factors should be clearly documented which includes advancing age, a past history of venous thrombosis, immobility, trauma, surgery, nephrotic syndrome, inflammatory disorders, hormone use, pregnancy, post-partum state and obesity.
    • Based on history and physical exam, the Wells score guides diagnostic workup in first time (VTE) is preferred.
  • Physical signs and symptoms:
    • The signs and symptoms of thrombosis vary depending on the presumed location and acuity.
    • Deep Vein Thrombosis (DVT):[6]
      • Patients often present with isolated extremity swelling, pain, warmth, and erythema at the site of the blockage and describes the pain as “crampy” located in the calf or thigh of the affected lower extremity or any extremity.
      • They may exhibit a decreased range of motion of the extremity, inability to ambulate, or radiation of pain (e.g., into the groin for LE DVT extending to femoral vein).
    • Acute Pulmonary Embolism (PE): [7]
      • Patients may present with pleuritic chest pain, shortness of breath, fatigue, back pain, syncope, or even death if severe cases associated with hemodynamic instability or right heart strain.
      • Signs include tachycardia, tachypnea, fever, and may include oxygen desaturation.
    • Arterial thrombosis: They are most commonly found in cardiac or cerebrovascular vasculature. [8]
      • Coronary arteries: They often report with the classic presentation of “crushing” left-sided chest pain or heaviness with radiation to the left arm or jaw; though atypical presentations can occur frequently.
      • Cerebral arteries: It may present with ischemic stroke symptoms which include acute onset of unilateral or bilateral weakness, headache, confusion, vision changes, dysarthria, dysphagia, paresthesias, difficulty ambulating, or frank paralysis of one or more extremities.

Table 1: Clinical characteristics of patients with thrombophilia [9] [10]

Clinical features


  1. DeLoughery TG. Hemostasis and Thrombosis: Springer International Publishing; 2014.
  2. Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
  3. Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
  4. "Hypercoagulability - StatPearls - NCBI Bookshelf".
  5. März W, Nauck M, Wieland H (2000). "The molecular mechanisms of inherited thrombophilia". Z Kardiol. 89 (7): 575–86. doi:10.1007/s003920070206. PMID 10957782.
  6. Streiff, Michael B.; Agnelli, Giancarlo; Connors, Jean M.; Crowther, Mark; Eichinger, Sabine; Lopes, Renato; McBane, Robert D.; Moll, Stephan; Ansell, Jack (2016). "Guidance for the treatment of deep vein thrombosis and pulmonary embolism". Journal of Thrombosis and Thrombolysis. 41 (1): 32–67. doi:10.1007/s11239-015-1317-0. ISSN 0929-5305.
  7. Streiff MB, Agnelli G, Connors JM, Crowther M, Eichinger S, Lopes R; et al. (2016). "Guidance for the treatment of deep vein thrombosis and pulmonary embolism". J Thromb Thrombolysis. 41 (1): 32–67. doi:10.1007/s11239-015-1317-0. PMC 4715858. PMID 26780738.
  8. "Thrombosis - StatPearls - NCBI Bookshelf".
  9. "Guidelines on the investigation and management of thrombophilia. The British Committee for Standards in Haematology". Journal of Clinical Pathology. 43 (9): 703–709. 1990. doi:10.1136/jcp.43.9.703. ISSN 0021-9746.
  10. Pinjala, R. K.; Reddy, L. R. C.; Nihar, R. P.; Praveen, G. V. A.; Sandeep, M. (2012). "Thrombophilia – How Far and How Much to Investigate?". Indian Journal of Surgery. 74 (2): 157–162. doi:10.1007/s12262-011-0407-2. ISSN 0972-2068.
  11. Smalberg JH, Kruip MJ, Janssen HL, Rijken DC, Leebeek FW, de Maat MP (2011). "Hypercoagulability and hypofibrinolysis and risk of deep vein thrombosis and splanchnic vein thrombosis: similarities and differences". Arterioscler Thromb Vasc Biol. 31 (3): 485–93. doi:10.1161/ATVBAHA.110.213371. PMID 21325670.
  12. Mohanty D, Shetty S, Ghosh K, Pawar A, Abraham P (2001). "Hereditary thrombophilia as a cause of Budd-Chiari syndrome: a study from Western India". Hepatology. 34 (4 Pt 1): 666–70. doi:10.1053/jhep.2001.27948. PMID 11584361.
  13. Bombeli T, Basic A, Fehr J (2002). "Prevalence of hereditary thrombophilia in patients with thrombosis in different venous systems". Am J Hematol. 70 (2): 126–32. doi:10.1002/ajh.10103. PMID 12111785.
  14. Lussana F, Dentali F, Ageno W, Kamphuisen PW (2007). "Venous thrombosis at unusual sites and the role of thrombophilia". Semin Thromb Hemost. 33 (6): 582–7. doi:10.1055/s-2007-985754. PMID 17768690.
  15. Riva N, Ageno W (2017). "Approach to thrombosis at unusual sites: Splanchnic and cerebral vein thrombosis". Vasc Med. 22 (6): 529–540. doi:10.1177/1358863X17734057. PMID 29202678.

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