Thrombophilia Testing: A British Society for Haematology Guideline

Overview

Journal Br J Haematol

Specialty Hematology

Date 2022 Jun 1

PMID 35645034

Authors

Deepa J Arachchillage

Lucy Mackillop

Arvind Chandratheva

Jayashree Motawani

Peter MacCallum

Mike Laffan

Affiliations

Soon will be listed here.

Citing Articles

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Clinical characteristics and thrombophilia associated gene variants in Egyptians with unprovoked venous thromboembolism: three centers experience.

Efat A, Shoeib S, Abdelmonem A, Elamawy M, Eleleimy H, Ibrahem R Mol Biol Rep. 2024; 51(1):1013.

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A Nomogram Model Containing Genetic Polymorphisms to Predict Risk of Pulmonary Embolism in Pregnant Women.

Sun H, Zhou L, Lu Y, Li Y, Huo Y, Huang W Int J Womens Health. 2024; 16:1505-1516.

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Venous thromboembolism risk in adults with hereditary thrombophilia: a systematic review and meta-analysis.

Alnor A, Gils C, Vinholt P Ann Hematol. 2024; 103(10):4285-4294.

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Patients with Cushing's syndrome suffer from provoked venous thromboembolism and are anticoagulated in various patterns.

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PMID: 39032510 PMC: 11378132. DOI: 10.1530/EC-23-0557.

References

Timp J, Lijfering W, Flinterman L, van Hylckama Vlieg A, le Cessie S, Rosendaal F . Predictive value of factor VIII levels for recurrent venous thrombosis: results from the MEGA follow-up study. J Thromb Haemost. 2015; 13(10):1823-32. DOI: 10.1111/jth.13113. View

Pengo V, Biasiolo A, Pegoraro C, Cucchini U, Noventa F, Iliceto S . Antibody profiles for the diagnosis of antiphospholipid syndrome. Thromb Haemost. 2005; 93(6):1147-52. DOI: 10.1160/TH04-12-0839. View

Ho W, Hankey G, Quinlan D, Eikelboom J . Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med. 2006; 166(7):729-36. DOI: 10.1001/archinte.166.7.729. View

van Sluis G, Sohne M, Kheir D, Tanck M, Gerdes V, Buller H . Family history and inherited thrombophilia. J Thromb Haemost. 2006; 4(10):2182-7. DOI: 10.1111/j.1538-7836.2006.02139.x. View

Middeldorp S . Inherited thrombophilia: a double-edged sword. Hematology Am Soc Hematol Educ Program. 2016; 2016(1):1-9. PMC: 6142488. DOI: 10.1182/asheducation-2016.1.1. View

Tincani A, Rebaioli C, Andreoli L, Lojacono A, Motta M . Neonatal effects of maternal antiphospholipid syndrome. Curr Rheumatol Rep. 2009; 11(1):70-6. DOI: 10.1007/s11926-009-0010-8. View

Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R . Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005; 106(12):3699-709. PMC: 1895106. DOI: 10.1182/blood-2005-04-1717. View

Michiels J, Berneman Z, Gadisseur A, Lam K, De Raeve H, Schroyens W . Aspirin-responsive, migraine-like transient cerebral and ocular ischemic attacks and erythromelalgia in JAK2-positive essential thrombocythemia and polycythemia vera. Acta Haematol. 2014; 133(1):56-63. DOI: 10.1159/000360388. View

Van Ommen C, Heijboer H, Buller H, HiraSing R, Heijmans H, Peters M . Venous thromboembolism in childhood: a prospective two-year registry in The Netherlands. J Pediatr. 2001; 139(5):676-81. DOI: 10.1067/mpd.2001.118192. View

10.

Cervera R, Serrano R, Pons-Estel G, Ceberio-Hualde L, Shoenfeld Y, de Ramon E . Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: a multicentre prospective study of 1000 patients. Ann Rheum Dis. 2014; 74(6):1011-8. DOI: 10.1136/annrheumdis-2013-204838. View

11.

Boutitie F, Pinede L, Schulman S, Agnelli G, Raskob G, Julian J . Influence of preceding length of anticoagulant treatment and initial presentation of venous thromboembolism on risk of recurrence after stopping treatment: analysis of individual participants' data from seven trials. BMJ. 2011; 342:d3036. PMC: 3100759. DOI: 10.1136/bmj.d3036. View

12.

Revel-Vilk S, Chan A, Bauman M, Massicotte P . Prothrombotic conditions in an unselected cohort of children with venous thromboembolic disease. J Thromb Haemost. 2003; 1(5):915-21. DOI: 10.1046/j.1538-7836.2003.00158.x. View

13.

Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan A, Milosevic J . JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2013; 123(10):1544-51. PMC: 3945864. DOI: 10.1182/blood-2013-11-539098. View

14.

Pahus S, Hansen A, Hvas A . Thrombophilia testing in young patients with ischemic stroke. Thromb Res. 2015; 137:108-112. DOI: 10.1016/j.thromres.2015.11.006. View

15.

Shetty S, Kulkarni B, Pai N, Mukundan P, Kasatkar P, Ghosh K . JAK2 mutations across a spectrum of venous thrombosis cases. Am J Clin Pathol. 2010; 134(1):82-5. DOI: 10.1309/AJCP7VO4HAIZYATP. View

16.

Tait C, Baglin T, Watson H, Laffan M, Makris M, Perry D . Guidelines on the investigation and management of venous thrombosis at unusual sites. Br J Haematol. 2012; 159(1):28-38. DOI: 10.1111/j.1365-2141.2012.09249.x. View

17.

Liu S, Rouleau J, Joseph K, Sauve R, Liston R, Young D . Epidemiology of pregnancy-associated venous thromboembolism: a population-based study in Canada. J Obstet Gynaecol Can. 2009; 31(7):611-620. DOI: 10.1016/S1701-2163(16)34240-2. View

18.

Levy J, Connors J . Heparin Resistance - Clinical Perspectives and Management Strategies. N Engl J Med. 2021; 385(9):826-832. DOI: 10.1056/NEJMra2104091. View

19.

Celkan T, Dikme G . Thrombosis in children: Which test to whom, when and how much necessary?. Turk Pediatri Ars. 2018; 53(1):1-9. PMC: 6070222. DOI: 10.5152/TurkPediatriArs.2018.2586. View

20.

Coppens M . Contraception in women with hereditary thrombophilic defects. Clin Adv Hematol Oncol. 2015; 13(9):566-8. View