Do we need more guidance on thrombophilia testing? Challenges and special considerations

References

• Mannucci PM, Franchini M. The real value of thrombophilia markers in identifying patients at high risk of venous thromboembolism. Expert Rev Hematol. 2014;7(6):757–65. doi: 10.1586/17474086.2014.960385
   PubMed Web of Science ®Google Scholar
• Dahlbäck B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood. 2008;112(1):19–27. doi: 10.1182/blood-2008-01-077909
   PubMed Web of Science ®Google Scholar
• Lippi G, Franchini M. Pathogenesis of venous thromboembolism: when the cup runneth over. Semin Thromb Hemost. 2008;34(8):747–61. doi: 10.1055/s-0029-1145257
   PubMed Web of Science ®Google Scholar
• Middeldorp S, Nieuwlaat R, Baumann Kreuziger L, et al. American society of hematology 2023 guidelines for management of venous thromboembolism: thrombophilia testing. Blood Adv. 2023;7(22):7101–7138. doi: 10.1182/bloodadvances.2023010177
   PubMed Web of Science ®Google Scholar
• Colucci G, Tsakiris DA. Thrombophilia screening revisited: an issue of personalized medicine. J Thromb Thrombolysis. 2020;49(4):618–29. doi: 10.1007/s11239-020-02090-y
   PubMed Web of Science ®Google Scholar
• Connors JM, Longo DL. Thrombophilia testing and venous thrombosis. N Engl J Med. 2017;377(12):1177–87. doi: 10.1056/NEJMra1700365
   PubMed Web of Science ®Google Scholar
• Stevens SM, Woller SC, Bauer KA, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016;41(1):154–164. doi: 10.1007/s11239-015-1316-1
   PubMed Web of Science ®Google Scholar
• Masuda EM, Lee RW, Okazaki IJ, et al. Thrombophilia testing has limited usefulness in clinical decision-making and should be used selectively. J Vasc Surg Venous Lymphat Disord. 2015;3(2):228–35. doi: 10.1016/j.jvsv.2015.01.001
   PubMedGoogle Scholar
• Vossen CY, Walker ID, Svensson P, et al. Recurrence rate after a first venous thrombosis in patients with familial thrombophilia. Arterioscler Thromb Vasc Biol. 2005;25(9):1992–1997. doi: 10.1161/01.ATV.0000174806.76629.7b
   PubMed Web of Science ®Google Scholar
• Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh. 1965;13(2):516–530.
   PubMedGoogle Scholar
• Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981;68(5):1370–73. doi: 10.1172/jci110385
   PubMed Web of Science ®Google Scholar
• Schwarz HP, Fischer M, Hopmeier P, et al. Plasma protein S deficiency in familial thrombotic disease. Blood. 1984 Dec;64(6):1297–1300.
   PubMed Web of Science ®Google Scholar
• Roemisch J, Gray E, Hoffmann JN, et al. Antithrombin: a new look at the actions of a serine protease inhibitor. Blood Coagul Fibrinolysis. 2002;13(8):657–70. doi: 10.1097/00001721-200212000-00001
   PubMed Web of Science ®Google Scholar
• Dahlbäck B, Villoutreix BO. The anticoagulant protein C pathway. FEBS Lett. 2005 Jun 13;579(15):3310–16. doi: 10.1016/j.febslet.2005.03.001
   PubMed Web of Science ®Google Scholar
• Zhang K, Zhang H, Yu D, et al. Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia. Gene. 2023;897:148085. doi: 10.1016/j.gene.2023.148085
   PubMed Web of Science ®Google Scholar
• Caspers M, Pavlova A, Driesen J, et al. Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort. Thromb Haemost. 2012;108(2):247–257.
   PubMed Web of Science ®Google Scholar
• Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64–67. doi: 10.1038/369064a0
   PubMed Web of Science ®Google Scholar
• Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88(10):3698–03. doi: 10.1182/blood.V88.10.3698.bloodjournal88103698
   PubMed Web of Science ®Google Scholar
• Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP WOrking group: routine testing for factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genet Med. 2011;13(1):67–6. doi: 10.1097/GIM.0b013e3181fbe46f
   PubMed Web of Science ®Google Scholar
• Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346(8983):1133–4. doi: 10.1016/s0140-6736(95)91803-5
   PubMed Web of Science ®Google Scholar
• Saemundsson Y, Sveinsdottir SV, Svantesson H, et al. Homozygous factor V Leiden and double heterozygosity for factor V Leiden and prothrombin mutation. J Thromb Thrombolysis. 2013;36(3):324–31. doi: 10.1007/s11239-012-0824-5
   PubMed Web of Science ®Google Scholar
• Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993;90(3):1004–8. doi: 10.1073/pnas.90.3.1004
   PubMed Web of Science ®Google Scholar
• Dahlbäck B. The discovery of activated protein C resistance. J Thromb Haemost. 2003;1(1):3–9. doi: 10.1046/j.1538-7836.2003.00016.x
   PubMed Web of Science ®Google Scholar
• Zivelin A, Griffin JH, Xu X, et al. A single genetic origin for a common caucasian risk factor for venous thrombosis. Blood. 1997 Jan;89(2):397–402.
   PubMed Web of Science ®Google Scholar
• Alakoç YD, Aka PS, Eğin Y, et al. Factor V Leiden in a Urartian, dating back to 1000 BC. Clin Appl Thromb Hemost. 2010;16(6):679–683.
   PubMed Web of Science ®Google Scholar
• Lindqvist PG, Svensson PJ, Dahlbäck B, et al. Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss–a possible evolutionary selection mechanism. Thromb Haemost. 1998;79(1):69–73. doi: 10.1055/s-0037-1614222
   PubMed Web of Science ®Google Scholar
• Clauss A. Gerinnungsphysiologische Schnellmethode zur Bestimmung des fibrinogens [rapid physiological coagulation method in determination of fibrinogen]. Acta Haematol. 1957;17(4):237–46. doi: 10.1159/000205234
   PubMedGoogle Scholar
• Mosesson MW. Dysfibrinogenemia and thrombosis. Semin Thromb Hemost. 1999;25(3):311–319. doi: 10.1055/s-2007-994933
   PubMed Web of Science ®Google Scholar
• Casini A, Blondon M, Lebreton A, et al. Natural history of patients with congenital dysfibrinogenemia. Blood. 2015;125(3):553–61. doi: 10.1182/blood-2014-06-582866
   PubMed Web of Science ®Google Scholar
• Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med. 2000;343(7):457–62. doi: 10.1056/NEJM200008173430702
   PubMed Web of Science ®Google Scholar
• Rosendaal FR. High levels of factor VIII and venous thrombosis. Thromb Haemost. 2000 Jan;83(1):1–2. doi: 10.1055/s-0037-1613745
   PubMed Web of Science ®Google Scholar
• Souto JC, Almasy L, Muñiz-Diaz E, et al. Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol. 2000;20(8):2024–8. doi: 10.1161/01.atv.20.8.2024
   PubMed Web of Science ®Google Scholar
• Kamphuisen PW, Eikenboom JC, Bertina RM. Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol. 2001;21(5):731–738. doi: 10.1161/01.atv.21.5.731
   PubMed Web of Science ®Google Scholar
• Dentali F, Sironi AP, Ageno W, et al. Non-O blood type is the commonest genetic risk factor for VTE: results from a meta-analysis of the literature. Semin Thromb Hemost. 2012;38(5):535–548. doi: 10.1055/s-0032-1315758
   PubMed Web of Science ®Google Scholar
• Wu O, Bayoumi N, Vickers MA, et al. ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J Thromb Haemost. 2008;6(1):62–9. doi: 10.1111/j.1538-7836.2007.02818.x
   PubMed Web of Science ®Google Scholar
• Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987;69(6):1691–1695. doi: 10.1182/blood.V69.6.1691.1691
   PubMed Web of Science ®Google Scholar
• Vandevelde A, Devreese KMJ. Laboratory diagnosis of antiphospholipid syndrome: insights and hindrances. J Clin Med. 2022;11(8):2164. doi: 10.3390/jcm11082164
   PubMed Web of Science ®Google Scholar
• Devreese KMJ, de Groot PG, de Laat B, et al. Guidance from the scientific and standardization committee for lupus anticoagulant/antiphospholipid antibodies of the international society on thrombosis and Haemostasis: update of the guidelines for lupus anticoagulant detection and interpretation. J Thromb Haemost. 2020;18(11):2828–2839. doi: 10.1111/jth.15047
   PubMed Web of Science ®Google Scholar
• Marai I, Tincani A, Balestrieri G, et al. Anticardiolipin and anti-beta-2-glycoprotein I antibodies. Autoimmunity. 2005;38(1):33–8. doi: 10.1080/08916930400022608
   PubMed Web of Science ®Google Scholar
• Pengo V, Bison E, Denas G, et al. Laboratory diagnostics of antiphospholipid syndrome. Semin Thromb Hemost. 2018 Jul;44(5):439–44. doi: 10.1055/s-0037-1601331
   PubMed Web of Science ®Google Scholar
• Pengo V. Additional laboratory tests to improve on the diagnosis of antiphospholipid syndrome. J Thromb Haemost. 2020;18(8):1846–48. doi: 10.1111/jth.14896
   PubMed Web of Science ®Google Scholar
• Mameli A, Barcellona D, Vannini ML, et al. High frequency of inadequate test requests for antiphospholipid antibodies in daily clinical practice. Clin Chem Lab Med. 2011;49(4):695–8. doi: 10.1515/CCLM.2011.111
   PubMed Web of Science ®Google Scholar
• Mameli A, Barcellona D, Vannini ML, et al. A routine silica-based activated partial thromboplastin time (hemosil aPTT-SP™) mostly excludes the presence of lupus anticoagulant. Int J Lab Hematol. 2011;33(5):e12–3.
   PubMed Web of Science ®Google Scholar
• Barbhaiya M, Zuily S, Naden R, et al. ACR/EULAR APS classification criteria collaborators. 2023 ACR/EULAR antiphospholipid syndrome classification criteria. Ann Rheum Dis. 2023;82(10):1258–70. doi: 10.1136/ard-2023-224609
   PubMed Web of Science ®Google Scholar
• Hermann A, Sitdikova G. Homocysteine: biochemistry, molecular biology and role in disease. Biomolecules. 2021 May;11(5):737. doi: 10.3390/biom11050737
   PubMed Web of Science ®Google Scholar
• Perła-Kaján J, Twardowski T, Jakubowski H. Mechanisms of homocysteine toxicity in humans. Amino Acids. 2007;32(4):561–72. doi: 10.1007/s00726-006-0432-9
   PubMed Web of Science ®Google Scholar
• Coppola A, Davi G, De Stefano V, et al. Homocysteine, coagulation, platelet function, and thrombosis. Semin Thromb Hemost. 2000;26(3):243–254.
   PubMed Web of Science ®Google Scholar
• Clarke R, Daly L, Robinson K, et al. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med. 1991;324(17):1149–55. doi: 10.1056/NEJM199104253241701
   PubMed Web of Science ®Google Scholar
• Ray JG. Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease. Arch Intern Med. 1998 Oct;158(19):2101–6. doi: 10.1001/archinte.158.19.2101
   PubMed Web of Science ®Google Scholar
• Cattaneo M. Hyperhomocysteinemia and thrombosis. Lipids. 2001;36(Suppl):S13–26. doi: 10.1007/s11745-001-0677-9
   PubMedGoogle Scholar
• Hensen ADO, Lijfering WM, Cannegieter SC, et al. Hyperhomocysteinaemia and the risk of recurrent venous thrombosis: results from the MEGA follow-up study. Br J Haematol. 2019;187(2):219–26. doi: 10.1111/bjh.16075
   PubMed Web of Science ®Google Scholar
• Lussana F, Betti S, D’Angelo A, et al. Evaluation of the prevalence of severe hyperhomocysteinemia in adult patients with thrombosis who underwent screening for thrombophilia. Thromb Res. 2013;132(6):681–84. doi: 10.1016/j.thromres.2013.09.038
   PubMed Web of Science ®Google Scholar
• Al-Mefty O, Marano G, Raiaraman S, et al. Transient ischemic attacks due to increased platelet aggregation and adhesiveness. Ultrastructural and functional correlation. J Neurosurg. 1979;50(4):449–453. doi: 10.3171/jns.1979.50.4.0449
   PubMed Web of Science ®Google Scholar
• Mammen EF. Sticky platelet syndrome. Semin Thromb Hemost. 1999;25(4):361–5. doi: 10.1055/s-2007-994939
   PubMed Web of Science ®Google Scholar
• Sokol J, Skerenova M, Ivankova J, et al. Association of genetic variability in selected genes in patients with deep vein thrombosis and platelet hyperaggregability. Clin Appl Thromb Hemost. 2018;24(7):1027–32. doi: 10.1177/1076029618779136
   PubMed Web of Science ®Google Scholar
• Sokol J, Biringer K, Skerenova M, et al. Different models of inheritance in selected genes in patients with sticky platelet syndrome and fetal loss. Semin Thromb Hemost. 2015;41(3):330–5. doi: 10.1055/s-0034-1395351
   PubMed Web of Science ®Google Scholar
• Velázquez-Sánchez-de-Cima S, Zamora-Ortiz G, Hernández-Reyes J, et al. Primary thrombophilia in México X: a prospective study of the treatment of the sticky platelet syndrome. Clin Appl Thromb Hemost. 2015;21(1):91–5. doi: 10.1177/1076029613501543
   PubMed Web of Science ®Google Scholar
• Kubisz P, Ruiz-Argüelles GJ, Stasko J, et al. Sticky platelet syndrome: history and future perspectives. Semin Thromb Hemost. 2014;40(5):526–534.
   PubMed Web of Science ®Google Scholar
• Minutti-Zanella C, Villarreal-Martínez L, Ruiz-Argüelles GJ. Primary thrombophilia XVII: a narrative review of sticky platelet syndrome in México. J Clin Med. 2022;11(14):4100. doi: 10.3390/jcm11144100
   PubMed Web of Science ®Google Scholar
• Franchini M, Martinelli I, Mannucci PM. Uncertain thrombophilia markers. Thromb Haemost. 2016;115(1):25–30. doi: 10.1160/TH15-06-0478
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Kearon C, Akl EA, Comerota AJ, et al. Antithrombotic therapy for VTE disease: antithrombotic therapy and prevention of thrombosis, 9th ed: American college of chest physicians evidence-based clinical practice guidelines. Chest. 2012;141(2 Suppl):e419–e496. doi: 10.1378/chest.11-2301
   Web of Science ®Google Scholar
• Hicks LK, Bering H, Carson KR, et al. Five hematologic tests and treatments to question. Hematology Am Soc Hematol Educ Program. 2014;2014(1):599–603. doi: 10.1182/asheducation-2014.1.599
   PubMedGoogle Scholar
• Streiff MB, Agnelli G, Connors JM, et al. Guidance for the treatment of deep vein thrombosis and pulmonary embolism. J Thromb Thrombolysis. 2016;41(1):32–67. doi: 10.1007/s11239-015-1317-0
   PubMed Web of Science ®Google Scholar
• Arachchillage DJ, Mackillop L, Chandratheva A, et al. Thrombophilia testing: a British society for haematology guideline. Br J Haematol. 2022;198(3):443–458.
   PubMed Web of Science ®Google Scholar
• Engbers MJ, van Hylckama Vlieg A, Rosendaal FR, et al. Venous thrombosis in the elderly: incidence, risk factors and risk groups. J Thromb Haemost. 2010;8(10):2105–12. doi: 10.1111/j.1538-7836.2010.03986.x
   PubMed Web of Science ®Google Scholar
• Prandoni P, Noventa F, Ghirarduzzi A, et al. The risk of recurrent venous thromboembolism after discontinuing anticoagulation in patients with acute proximal deep vein thrombosis or pulmonary embolism. A prospective cohort study in 1,626 patients. Haematologica. 2007;92(2):199–205. doi: 10.3324/haematol.10516
   PubMed Web of Science ®Google Scholar
• Ebraheem M, Alzahrani I, Crowther M, et al. Extended DOAC therapy in patients with VTE and potential risk of recurrence: a systematic review and meta-analysis. J Thromb Haemost. 2020;18(9):2308–17. doi: 10.1111/jth.14949
   PubMed Web of Science ®Google Scholar
• Croles FN, Nasserinejad K, Duvekot JJ, et al. Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis. BMJ. 2017 Oct;359:j4452.
   PubMedGoogle Scholar
• Simcox LE, Ormesher L, Tower C, et al. Thrombophilia and pregnancy complications. Int J Mol Sci. 2015;16(12):28418–28. doi: 10.3390/ijms161226104
   PubMed Web of Science ®Google Scholar
• Barcellona D, Grandone E, Marongiu F. Hormones and thrombosis: the dark side of the moon. Blood Transfus. 2023 Apr 27. doi: 10.2450/BloodTransfus.535
   Google Scholar
• Vandenbroucke JP, Rosing J, Bloemenkamp KW, et al. Oral contraceptives and the risk of venous thrombosis. N Engl J Med. 2001;344(20):1527–1535.
   PubMed Web of Science ®Google Scholar
• van Vlijmen EF, Wiewel-Verschueren S, Monster TB, et al. Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. J Thromb Haemost. 2016;14(7):1393–1403. doi: 10.1111/jth.13349
   PubMed Web of Science ®Google Scholar
• Lidegaard Ø, Milsom I, Geirsson RT, et al. Hormonal contraception and venous thromboembolism. Acta Obstet Gynecol Scand. 2012;91(7):769–78.
   PubMed Web of Science ®Google Scholar
• Lidegaard Ø. Hormonal contraception, thrombosis and age. Expert Opin Drug Saf. 2014;13(10):1353–1360.
   PubMed Web of Science ®Google Scholar
• Middeldorp S. Is thrombophilia testing useful? Hematology Am Soc Hematol Educ Program. 2011;2011:150–155. doi: 10.1182/asheducation-2011.1.150
   PubMed Web of Science ®Google Scholar
• Walter FM, Emery J. ‘Coming down the line’– patients’ understanding of their family history of common chronic disease. Ann Fam Med. 2005;3(5):405–414. doi: 10.1370/afm.368
   PubMed Web of Science ®Google Scholar
• Cosmi B, Legnani C, Bernardi F, et al. Value of family history in identifying women at risk of venous thromboembolism during oral contraception: observational study. BMJ. 2001;322(7293):1024–1025.
   PubMedGoogle Scholar
• Mantha S, Karp R, Raghavan V, et al. Assessing the risk of venous thromboembolic events in women taking progestin-only contraception: a meta-analysis. BMJ. 2012;345(aug07 2):e4944. doi: 10.1136/bmj
   PubMedGoogle Scholar
• Sammaritano LR. Which hormones and contraception for women with APS? Exogenous hormone use in women with APS. Curr Rheumatol Rep. 2021;23:44. doi: 10.1007/s11926-021-01006-w
   PubMedGoogle Scholar
• Rey E, Kahn SR, David M, et al. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet. 2003;361(9361):901–908. doi: 10.1016/S0140-6736(03)12771-7
   PubMed Web of Science ®Google Scholar
• Tormene D, Grandone E, De Stefano V, et al. Obstetric complications and pregnancy-related venous thromboembolism: the effect of low-molecular-weight heparin on their prevention in carriers of factor V Leiden or prothrombin G20210A mutation. Thromb Haemost. 2012;107(3):477–84. doi: 10.1160/TH11-07-0470
   PubMed Web of Science ®Google Scholar
• Bender Atik R, Christiansen OB, Elson J, et al. ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open. 2018;2018(2):hoy004. doi: 10.1093/hropen/hoy004
   PubMedGoogle Scholar
• Manning R, Iyer J, Bulmer JN, et al. Are we managing women with recurrent miscarriage appropriately? A snapshot survey of clinical practice within the United Kingdom. J Obstet Gynaecol. 2021 Jul;41(5):807–14.
   PubMedGoogle Scholar
• Grandone E, Tiscia GL, Mastroianno M, et al. M. Findings from a multicentre, observational study on reproductive outcomes in women with unexplained recurrent pregnancy loss: the OTTILIA registry. Hum Reprod. 2021;36(8):2083–90. doi: 10.1093/humrep/deab153
   PubMed Web of Science ®Google Scholar
• Regan L, Rai R, Saravelos S, et al. Royal college of obstetricians and gynaecologists. Recurrent MiscarriageGreen-top guideline No. 17. BJOG. 2023;130(12):e9–e39. doi: 10.1111/1471-0528.17515
   PubMedGoogle Scholar
• Middeldorp S. Inherited thrombophilia: a double-edged sword. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):1–9. doi: 10.1182/asheducation-2016.1.1
   PubMedGoogle Scholar
• Prisco D, Marcucci R, Bertini L, et al. Cardiovascular and thrombophilic risk factors for central retinal vein occlusion. Eur J Intern Med. 2002;13(3):163–9. doi: 10.1016/s0953-6205(02)00025-0
   PubMedGoogle Scholar
• Rogers S, McIntosh RL, Cheung N, et al. International eye disease consortium. The prevalence of retinal vein occlusion: pooled data from population studies from the United States, Europe, Asia, and Australia. Ophthalmol. 2010;117(2):313–19.e1.
   PubMed Web of Science ®Google Scholar
• Jaulim A, Ahmed B, Khanam T, et al. Branch retinal vein occlusion: epidemiology, pathogenesis, risk factors, clinical features, diagnosis, and complications. An update of the literature. Retina. 2013;33(5):901–10. doi: 10.1097/IAE.0b013e3182870c15
   PubMed Web of Science ®Google Scholar
• Nicholson L, Talks SJ, Amoaku W, et al. Retinal vein occlusion (RVO) guideline: executive summary. Eye (Lond). 2022;36(5):909–12. doi: 10.1038/s41433-022-02007-4
   PubMed Web of Science ®Google Scholar
• Romiti GF, Corica B, Borgi M, et al. Inherited and acquired thrombophilia in adults with retinal vascular occlusion: a systematic review and meta-analysis. J Thromb Haemost. 2020;18(12):3249–66. doi: 10.1111/jth.15068
   PubMed Web of Science ®Google Scholar
• European Association for the Study of the Liver. Electronic address: [email protected]. EASL Clinical Practice Guidelines: Vascular diseases of the liver. J Hepatol. 2016;64(1):179–202. doi: 10.1016/j.jhep.2015.07.040
   PubMed Web of Science ®Google Scholar
• Ageno W, Dentali F, Squizzato A. How I treat splanchnic vein thrombosis. Blood. 2014;124(25):3685–91. doi: 10.1182/blood-2014-07-551515
   PubMed Web of Science ®Google Scholar
• Camerlo S, Ligato J, Rosati G, et al. Shedding light on the pathogenesis of splanchnic vein thrombosis. Int J Mol Sci. 2023;24(3):2262. doi: 10.3390/ijms24032262
   PubMed Web of Science ®Google Scholar
• Ageno W, Riva N, Schulman S, et al. Long-term clinical outcomes of splanchnic vein thrombosis: results of an international registry. JAMA Intern Med. 2015;175(9):1474–80. doi: 10.1001/jamainternmed.2015.3184
   PubMed Web of Science ®Google Scholar
• Janssen HL, Meinardi JR, Vleggaar FP, et al. Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. Blood. 2000;6(7):2364–2368.
   Google Scholar
• Thatipelli MR, McBane RD, Hodge DO, et al. Survival and recurrence in patients with splanchnic vein thromboses. Clin Gastroenterol Hepatol. 2010;8(2):200–5. doi: 10.1016/j.cgh.2009.09.01.9
   PubMed Web of Science ®Google Scholar
• Ageno W, Riva N, Schulman S, et al. IRSVT study group. Antithrombotic treatment of splanchnic vein thrombosis: results of an international registry. Semin Thromb Hemost. 2014;40(1):99–105.
   PubMed Web of Science ®Google Scholar
• Darwish Murad S, Plessier A, Hernandez-Guerra M, et al. EN-Vie (European network for vascular disorders of the liver). Etiology, management, and outcome of the Budd-Chiari syndrome. Ann Intern Med. 2009;151(3):167–175.
   PubMedGoogle Scholar
• Dentali F, Squizzato A, Brivio L, et al. JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood. 2009;113(22):5617–5623.
   PubMed Web of Science ®Google Scholar
• De Stefano V, Vannucchi AM, Ruggeri M, et al. Splanchnic vein thrombosis in myeloproliferative neoplasms: risk factors for recurrences in a cohort of 181 patients. Blood Cancer J. 2016;6(11):e493. doi: 10.1038/bcj.2016.103
   PubMedGoogle Scholar
• Moll S. Thrombophilia: clinical-practical aspects. J Thromb Thrombolysis. 2015;39(3):367–378. doi: 10.1007/s11239-015-1197-3
   PubMed Web of Science ®Google Scholar
• Baglin T, Gray E, Greaves M, et al. British committee for standards in haematology. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149(2):209–20. doi: 10.1111/j.1365-2141.2009.08022.x
   PubMed Web of Science ®Google Scholar
• Abdel-Wahab N, Talathi S, Lopez-Olivo MA, et al. Risk of developing antiphospholipid antibodies following viral infection: a systematic review and meta-analysis. Lupus. 2018;27(4):572–83. doi: 10.1177/0961203317731532
   PubMed Web of Science ®Google Scholar
• Devreese KMJ, Linskens EA, Benoit D, et al. Antiphospholipid antibodies in patients with COVID-19: a relevant observation? J Thromb Haemost. 2020;18(9):2191–2201. doi: 10.1111/jth.14994
   PubMed Web of Science ®Google Scholar
• Chiarantini E, Valanzano R, Liotta AA, et al. Hemostatic abnormalities in inflammatory bowel disease. Thromb Res. 1996 Apr 15;82(2):137–46. doi: 10.1016/0049-3848(96)00060-6
   PubMed Web of Science ®Google Scholar
• Minuk L, Lazo-Langner A, Kovacs J, et al. Normal levels of protein C and protein S tested in the acute phase of a venous thromboembolic event are not falsely elevated. Thromb J. 2010;8(1):10.
   PubMedGoogle Scholar
• Favaloro EJ, Lippi G. Interference of direct oral anticoagulants in haemostasis assays: high potential for diagnostic false positives and false negatives. Blood Transfus. 2017;15(6):491–94. doi: 10.2450/2017.0301-16
   PubMed Web of Science ®Google Scholar
• Exner T, Rigano J, Favaloro EJ. The effect of DOACs on laboratory tests and their removal by activated carbon to limit interference in functional assays. Int J Lab Hematol. 2020;42(Suppl 1):41–48. doi: 10.1111/ijlh.13196
   PubMedGoogle Scholar
• Pastori D, Menichelli D, Cammisotto V, et al. Use of direct oral anticoagulants in patients with antiphospholipid syndrome: a systematic review and comparison of the international guidelines. Front Cardiovasc Med. 2021;8:715878. doi: 10.3389/fcvm.2021.715878
   PubMed Web of Science ®Google Scholar
• Wu O, Robertson L, Twaddle S, et al. Thrombosis: risk and economic assessment of thrombophilia screening (TREATS) study. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol. 2005;131(1):80–90.
   PubMed Web of Science ®Google Scholar
• Yeo S, Kim H, Lee J, et al. Retinal vascular occlusions in COVID-19 infection and vaccination: a literature review. Graefes Arch Clin Exp Ophthalmol. 2023 Jul;261(7):1793–1808. doi: 10.1007/s00417-022-05953-7
   PubMed Web of Science ®Google Scholar
• Cote-Olijnyk M, Fowlkes S, Assouline S. Chronic myelogenous leukemia presenting as central retinal vein occlusion. Leuk Lymphoma. 2020;61(10):2515–18. doi: 10.1080/10428194.2020.1775203
   PubMed Web of Science ®Google Scholar
• Seyerle AA, Laurie CA, Coombes BJ, et al. Whole genome analysis of venous thromboembolism: the trans-omics for precision medicine program. Circ Genom Precis Med. 2023;16(2):e003532. doi: 10.1161/CIRCGEN.121.003532
   PubMed Web of Science ®Google Scholar
• Martin-Fernandez L, Gavidia-Bovadilla G, Corrales I, et al. Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis. PloS One. 2017;12(4):e0176301. doi: 10.1371/journal.pone.0176301
   PubMed Web of Science ®Google Scholar
• Lotta LA, Tuana G, Yu J, et al. Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis. J Thromb Haemost. 2013;11(7):1228–1239. doi: 10.1111/jth.12291
   PubMed Web of Science ®Google Scholar