Genetic testing for thrombophilia in case of unprovoked episode of pulmonary embolism

Authors

DOI:

https://doi.org/10.26641/2307-0404.2021.2.234734

Keywords:

pulmonary embolism, thrombophilia, low risk patient

Abstract

Venous thromboembolism (pulmonary embolism (PE) and deep vein thrombosis (DVT)) is the third among all cardiovascular syndromes in the world, second only to heart attack and stroke. Estimation of clinical probability of this condition takes into account many factors, including age. But in case of PE probability in young patient data of scales such as Geneva Score (Revised), Wells' criteria for pulmonary embolism, the PERC rule may be misleading. For this group a new influential factor emerges – thrombophilia. The aim of our work was to demonstrate the approach to identifying whom and when to test for genetic predisposition for thrombosis, based on a clinical case of young male with unprovoked episode of PE. Testing patients for thrombophilia is a good way to develop a personalised approach in case of prescribing long-term anticoagulant treatment. Moreover, patient’s awareness about congenital condition helps to increase complience which is crucial, due to the fact that in case of unprovoked pulmonary embolism another episode can occur in up to 50 % of cases during the next 5 years. In addition, further accumulation and analysis of data on the amount of genetic risk factors for thrombosis will expand our understanding of this issue and in the future will allow us to better diagnose and treat this condition.

References

Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, Mackie I, Makris M, Nokes T, Perry D, Tait RC, Walker I, Watson H; British Committee for Standards in Haematology. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010 Apr;149(2):209-20. Epub 2010 Jan 28. PMID: 20128794. doi: https://doi.org/10.1111/j.1365-2141.2009.08022.x

Connors JM. Thrombophilia Testing and Venous Thrombosis. N Engl J Med. 2017 Sep 21;377(12):1177-1187. PMID: 28930509. doi: https://doi.org/10.1056/NEJMra1700365

Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M, Lim W, Douketis JD. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016 Jan;41(1):154-64. PMID: 26780744; PMCID: PMC4715840. doi: https://doi.org/10.1007/s11239-015-1316-1

Bates SM, Middeldorp S, Rodger M, James AH, Greer I. Guidance for the treatment and prevention of obstetric-associated venous thromboembolism. J Thromb Thrombolysis. 2016 Jan;41(1):92-128. PMID: 26780741; PMCID: PMC4715853. doi: https://doi.org/10.1007/s11239-015-1309-0

Kireyeva TV., Basina BO., Kravchenko NK. Pneumonia misdiagnosis. Are we loosing time? // The Pharma Innovation Journal. 2019; 8(5): 92-94

Maynard G, Jenkins IH, Merli GJ. Venous throm¬boembolism prevention guidelines for medical inpatients: mind the (implementation) gap. J Hosp Med. 2013 Oct;8(10):582-8. Epub 2013 Aug 27. PMID: 23983041. doi: https://doi.org/10.1002/jhm.2071

Middeldorp S. Inherited thrombophilia: a double-edged sword. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):1-9. PMID: 27913455; PMCID PMC6142488. doi: https://doi.org/10.1182/asheducation-2016.1.1

Momot A.P. The problem of thrombophilia in clinical practice. Journal of Pediatric Hematology and Oncology. 2015;2(1):36-48. Russian. doi: https://doi.org/10.17650/2311-1267-2015-1-36-48

Rana S. Acute pulmonary embolism in young: Case reports. J Assoc Chest Physicians 2017;5:46-50. doi: https://doi.org/10.4103/2320-8775.196657

Raskob GE, Angchaisuksiri P, Blanco AN, Buller H, Gallus A, Hunt BJ, Hylek EM, Kakkar A, Konstantinides SV, McCumber M, Ozaki Y, Wendelboe A, Weitz JI; ISTH Steering Committee for World Thrombosis Day. Thrombosis: a major contributor to global disease burden. Arterioscler Thromb Vasc Biol. 2014 Nov;34(11):2363-71. PMID: 25304324. doi: https://doi.org/10.1161/ATVBAHA.114.304488

Konstantinides SV, Meyer G, Becattini C, Bueno H, Geersing GJ, Harjola VP, Huisman MV, Humbert M, Jennings CS, Jiménez D, Kucher N, Lang IM, Lankeit M, Lorusso R, Mazzolai L, Meneveau N, Áinle FN, Prandoni P, Pruszczyk P, Righini M, Torbicki A, Van Belle E, Zamorano JL. The Task Force for the diagnosis and management of acute pulmonary embolism of the European Society of Cardiology (ESC). 2019 ESC Gui¬delines for the diagnosis and management of acute pulmonary embolism developed in collaboration with the European Respiratory Society (ERS): The Task Force for the diagnosis and management of acute pulmonary embolism of the European Society of Cardiology (ESC). Eur Respir J. 2019 Oct 9;54(3):1901647. PMID: 31473594. doi: https://doi.org/10.1183/13993003.01647-2019

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Published

2021-06-18

How to Cite

1.
Kirieieva T, Pertseva T, Kravchenko N, Basina B. Genetic testing for thrombophilia in case of unprovoked episode of pulmonary embolism. Med. perspekt. [Internet]. 2021Jun.18 [cited 2024Oct.10];26(2):197-201. Available from: https://journals.uran.ua/index.php/2307-0404/article/view/234734

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A CASE FROM PRACTICE