Study of thrombophilia by the clinical laboratory
Keywords:
thrombophilia, clinical laboratoryAbstract
Thrombophilia is defined as an individual predisposition to suffer thromboembolic episodes. Due to high and growing incidence both worldwide and in Cuba of cardiovascular, cerebrovascular and peripheral vascular events whose pathogenesis involves thrombophilia, it becomes necessary an update of the usefulness of clinical laboratory tests used for their study. The review aims to update information on indication and interpretation of clinical laboratory tests useful in the study of thrombophilia. Searches were carried out in the databases PubMed, SciELO, LILACS and ClinicalKey with key words thrombophilia and clinical laboratory, in English and Spanish, the search reveled 120 articles, of which 27 were novel and relevant to the topic. Thrombophilic status should be investigated in any patient who presents venous thrombosis before the age of 45—recurrent or in unusual sites—unexplained neonatal thrombosis, coumarin skin necrosis, resistance to anticoagulant, arterial thrombosis before the age of 30, thrombophilic familiar history, recurrent pregnancy loss, thrombotic thrombocytopenic purpura or systemic lupus erythematosus. Initial tests should be: complete blood count, observation of colored smear of peripheral blood, and activated partial of thromboplastin time. More specific tests will include the genetic study of factor V Leiden, tests to detect antithrombin, protein C or protein S deficiencies; DNA analysis for the G20210A allele of prothrombin, factor VIII and homocysteine measurement, and detection of lupus anticoagulant, anti-β2-glycoprotein I and anticardiolipin antibodies.Downloads
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References
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3. Tauqeer Z, Bracha P, McGeehan B, et al. Hypercoagulability testing and hypercoagulable disorders in young central retinal vein occlusion patients. Ophthalmol Retina. 2022;6(1):37-42. DOI: 10.1016/j.oret.2021.03.009.
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5. Lobo JL, Alonso S, Arenas J, et al. Multidisciplinary Consensus for the Management of Pulmonary Thromboembolism. Arch Bronconeumol. 2022;58(3):246-54. DOI: 10.1016/j.arbres.2021.01.031.
6. Xie J, Prats-Uribe A, Feng Q, et al. Clinical and genetic risk factors for acute incident venous thromboembolism in ambulatory patients with COVID-19. JAMA Intern Med. 2022;182(10):1063-70. DOI: 10.1001/jamainternmed.2022.3858.
7. Bustillo-Santandreu MdJ, Álvarez-López Y, Feíto-Castex TR, et al. Morbi-mortalidad de la enfermedad tromboembólica venosa en el Hospital Universitario “Arnaldo Milián Castro”. Rev Cubana Angiol Cir Vasc [Internet]. 2022 [citado 22/12/2022];23(1). Disponible en: https://revangiologia.sld.cu/index.php/ang/article/view/320/333
8. Arachchillage DJ, Mackillop L, Chandratheva A, et al. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol. 2022;198:443-58. DOI: 10.1111/bjh.18239.
9. López-Sacerio A, Torres-Iribar W, Cruz-Rodríguez J. Enfermedad tromboembólica venosa en hemopatías malignas: un enfoque desde la prevención. Rev Cubana Hematol Immunol Hemoter [Internet]. 2022 [citado 22/12/2022];38(2). Disponible en: https://revhematologia.sld.cu/index.php/hih/article/view/1620
10. Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2020;95(12):1599-613. DOI: 10.1002/ajh.26008.
11. Asakrah S, Davis R, Bhargava P. Practical considerations and testing nuances for the detection of lupus anticoagulant: Do low phospholipid screen results, assay type, and test ratio matter? Am J Clin Pathol. 2021;156(6):1073-82. DOI: 10.1093/ajcp/aqab069.
12. Lee Y, Gu JY, Kim HK. Real-world evidence of lupus anticoagulant testing: simultaneous positivity of diluted Russell's viper venom time and silica clotting time increases thrombotic risk prediction. J Thromb Thrombolysis. 2022;54(2):318-22. DOI: 10.1007/s11239-022-02675-9.
13. Abughanimeh OK, Marar RI, Tahboub M, et al. Hereditary thrombophilia testing among hospitalized patients: Is it warranted? Cureus. 2022;14(5):e24855. DOI: 10.7759/cureus.24855.
14. Takhviji V, Zibara K, Maleki A, et al. A case-control study on factor V Leiden: an independent, gender-dependent risk factor for venous thromboembolism. Thromb J. 2021;19(1):74. DOI: 10.1186/s12959-021-00328-0.
15. Wei Y, He Y, Guo X. Clinical phenotype and genetic analysis of twins with congenital coagulation factor V deficiency. J Pediatr Hematol Oncol. 2022;44(2):e482-6. DOI: 10.1097/MPH.0000000000002261.
16. Ardizzone A, Capra AP, Mondello S, et al. H1299R variant in Factor V and recurrent pregnancy loss: A systematic review and meta-analysis protocol. Genes (Basel). 2022;13(6):1019. DOI: 10.3390/genes13061019.
17. Cepero Llauger K, Pérez Rosales CL, Carnot Uria J, et al. Caracterización de la trombofilia en pacientes con mutación del factor V de Leiden en el Hospital Hermanos Ameijeiras 2011-2021 [Internet]. La Habana: Convención Científica XL Aniversario Hospital Hermanos Ameijeiras; 2022 [citado 22/12/2022]. Disponible en: https://convencionhha.sld.cu/index.php/convxlhha/conv2022/paper/view/199
18. Noiri JI, Matsuzoe H, Nagaya S, et al. A case of venous thromboembolism caused by protein C deficiency due to a novel gene mutation. J Cardiol Cases. 2022;26(5):360-3. DOI: 10.1016/j.jccase.2022.07.012.
19. Brouns SL, Tullemans BM, Bulato C, et al. Protein C or Protein S deficiency associates with paradoxically impaired platelet-dependent thrombus and fibrin formation under flow. Res Pract Thromb Haemost. 2022;6(2):e12678. DOI: 10.1002/rth2.12678.
20. Kashfi S, Farhan Nasser M, Soleiman A, et al. Clot in transit in a patient with protein S deficiency. Eur J Case Rep Intern Med. 2022;9(5). DOI: 10.12890/2022_003355.
21. Zamora González Y, Urrutia Febles Y, Forrellat Barrios M. Trombosis y su relación con la deficiencia de proteínas C y S. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2020 [citado 17/10/2022];36(4):e1175. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892020000400009
22. Kruijt M, Van der Pol LM, Eikenboom J, et al. Unraveling a borderline antithrombin deficiency case with quantitative mass spectrometry. J Thromb Haemost. 2022;20(1):145-8. DOI: 10.1111/jth.15553.
23. Raptopoulou A, Michou V, Mourtzi N, et al. Large-scale screening for factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in Greek population. Health Sci Rep. 2022;5(4):e457. DOI: 10.1002/hsr2.457.
24. Liu A, Phair J, Naymagon L. Utility of hereditary thrombophilia testing among patients with lower extremity deep vein thrombosis. J Vasc Surg Venous Lymphat Disord. 2022;10(4):841-5. DOI: 10.1016/j.jvsv.2022.02.019.
25. Khalife S, Geitani R. Association of inherited thrombophilia with recurrent pregnancy loss in a population of Lebanese women: A Case Control Study. Int J Fertil Steril. 2022;16(3):247-51. DOI: 10.22074/IJFS.2022.540950.1205.
26. Tamayo-Velasco A, Cebeira MJ, Bombín-Canal C, et al. Fibrinogen deficiency with thrombotic manifestations. Eur J Case Rep Intern Med. 2022;9(6). DOI: 10.12890/2022_003400.
27. Deloughery TG, Hunt BJ, Barnes GD, et al. WTD Steering Committee. A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing. Res Pract Thromb Haemost. 2022;6(4):e12739. DOI: 10.1002/rth2.12739.
2. Gill S, Dhull P, Bhardwaj M. Prevalence of inherited procoagulant states in cerebral venous thrombosis and its correlation with severity and outcome. Neurosci Rural Pract. 2022;13(1):67-72. DOI: 10.1055/s-0041-1741488.
3. Tauqeer Z, Bracha P, McGeehan B, et al. Hypercoagulability testing and hypercoagulable disorders in young central retinal vein occlusion patients. Ophthalmol Retina. 2022;6(1):37-42. DOI: 10.1016/j.oret.2021.03.009.
4. Olivo Freites C, Naymagon L. The utility of hereditary thrombophilia testing among patients with unprovoked venous thromboembolism. Int J Lab Hematol. 2022;44(2):393-8. DOI: 10.1111/ijlh.13752.
5. Lobo JL, Alonso S, Arenas J, et al. Multidisciplinary Consensus for the Management of Pulmonary Thromboembolism. Arch Bronconeumol. 2022;58(3):246-54. DOI: 10.1016/j.arbres.2021.01.031.
6. Xie J, Prats-Uribe A, Feng Q, et al. Clinical and genetic risk factors for acute incident venous thromboembolism in ambulatory patients with COVID-19. JAMA Intern Med. 2022;182(10):1063-70. DOI: 10.1001/jamainternmed.2022.3858.
7. Bustillo-Santandreu MdJ, Álvarez-López Y, Feíto-Castex TR, et al. Morbi-mortalidad de la enfermedad tromboembólica venosa en el Hospital Universitario “Arnaldo Milián Castro”. Rev Cubana Angiol Cir Vasc [Internet]. 2022 [citado 22/12/2022];23(1). Disponible en: https://revangiologia.sld.cu/index.php/ang/article/view/320/333
8. Arachchillage DJ, Mackillop L, Chandratheva A, et al. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol. 2022;198:443-58. DOI: 10.1111/bjh.18239.
9. López-Sacerio A, Torres-Iribar W, Cruz-Rodríguez J. Enfermedad tromboembólica venosa en hemopatías malignas: un enfoque desde la prevención. Rev Cubana Hematol Immunol Hemoter [Internet]. 2022 [citado 22/12/2022];38(2). Disponible en: https://revhematologia.sld.cu/index.php/hih/article/view/1620
10. Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management. Am J Hematol. 2020;95(12):1599-613. DOI: 10.1002/ajh.26008.
11. Asakrah S, Davis R, Bhargava P. Practical considerations and testing nuances for the detection of lupus anticoagulant: Do low phospholipid screen results, assay type, and test ratio matter? Am J Clin Pathol. 2021;156(6):1073-82. DOI: 10.1093/ajcp/aqab069.
12. Lee Y, Gu JY, Kim HK. Real-world evidence of lupus anticoagulant testing: simultaneous positivity of diluted Russell's viper venom time and silica clotting time increases thrombotic risk prediction. J Thromb Thrombolysis. 2022;54(2):318-22. DOI: 10.1007/s11239-022-02675-9.
13. Abughanimeh OK, Marar RI, Tahboub M, et al. Hereditary thrombophilia testing among hospitalized patients: Is it warranted? Cureus. 2022;14(5):e24855. DOI: 10.7759/cureus.24855.
14. Takhviji V, Zibara K, Maleki A, et al. A case-control study on factor V Leiden: an independent, gender-dependent risk factor for venous thromboembolism. Thromb J. 2021;19(1):74. DOI: 10.1186/s12959-021-00328-0.
15. Wei Y, He Y, Guo X. Clinical phenotype and genetic analysis of twins with congenital coagulation factor V deficiency. J Pediatr Hematol Oncol. 2022;44(2):e482-6. DOI: 10.1097/MPH.0000000000002261.
16. Ardizzone A, Capra AP, Mondello S, et al. H1299R variant in Factor V and recurrent pregnancy loss: A systematic review and meta-analysis protocol. Genes (Basel). 2022;13(6):1019. DOI: 10.3390/genes13061019.
17. Cepero Llauger K, Pérez Rosales CL, Carnot Uria J, et al. Caracterización de la trombofilia en pacientes con mutación del factor V de Leiden en el Hospital Hermanos Ameijeiras 2011-2021 [Internet]. La Habana: Convención Científica XL Aniversario Hospital Hermanos Ameijeiras; 2022 [citado 22/12/2022]. Disponible en: https://convencionhha.sld.cu/index.php/convxlhha/conv2022/paper/view/199
18. Noiri JI, Matsuzoe H, Nagaya S, et al. A case of venous thromboembolism caused by protein C deficiency due to a novel gene mutation. J Cardiol Cases. 2022;26(5):360-3. DOI: 10.1016/j.jccase.2022.07.012.
19. Brouns SL, Tullemans BM, Bulato C, et al. Protein C or Protein S deficiency associates with paradoxically impaired platelet-dependent thrombus and fibrin formation under flow. Res Pract Thromb Haemost. 2022;6(2):e12678. DOI: 10.1002/rth2.12678.
20. Kashfi S, Farhan Nasser M, Soleiman A, et al. Clot in transit in a patient with protein S deficiency. Eur J Case Rep Intern Med. 2022;9(5). DOI: 10.12890/2022_003355.
21. Zamora González Y, Urrutia Febles Y, Forrellat Barrios M. Trombosis y su relación con la deficiencia de proteínas C y S. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2020 [citado 17/10/2022];36(4):e1175. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892020000400009
22. Kruijt M, Van der Pol LM, Eikenboom J, et al. Unraveling a borderline antithrombin deficiency case with quantitative mass spectrometry. J Thromb Haemost. 2022;20(1):145-8. DOI: 10.1111/jth.15553.
23. Raptopoulou A, Michou V, Mourtzi N, et al. Large-scale screening for factor V Leiden (G1691A), prothrombin (G20210A), and MTHFR (C677T) mutations in Greek population. Health Sci Rep. 2022;5(4):e457. DOI: 10.1002/hsr2.457.
24. Liu A, Phair J, Naymagon L. Utility of hereditary thrombophilia testing among patients with lower extremity deep vein thrombosis. J Vasc Surg Venous Lymphat Disord. 2022;10(4):841-5. DOI: 10.1016/j.jvsv.2022.02.019.
25. Khalife S, Geitani R. Association of inherited thrombophilia with recurrent pregnancy loss in a population of Lebanese women: A Case Control Study. Int J Fertil Steril. 2022;16(3):247-51. DOI: 10.22074/IJFS.2022.540950.1205.
26. Tamayo-Velasco A, Cebeira MJ, Bombín-Canal C, et al. Fibrinogen deficiency with thrombotic manifestations. Eur J Case Rep Intern Med. 2022;9(6). DOI: 10.12890/2022_003400.
27. Deloughery TG, Hunt BJ, Barnes GD, et al. WTD Steering Committee. A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing. Res Pract Thromb Haemost. 2022;6(4):e12739. DOI: 10.1002/rth2.12739.
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Published
2024-04-24
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1.
Suárez-González A, Linares-Morera A, García-Rodríguez M. Study of thrombophilia by the clinical laboratory. Rev Méd Electrón [Internet]. 2024 Apr. 24 [cited 2025 Jan. 23];46:e5185. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/5185
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