Cihat UZUNKÖPRÜ, Esra BAŞKURT, Tea BEQİROSKİ

Genç inmeli hastalarda trombofili durumunun kısa dönem sonlanım ile ilişkisi

Amaç: İskemik inme genç kişilerde ciddi sağlık sorunlarına yol açan bir durumdur. Bu çalışmada da genç iskemik inmeli hastalarda trombofili polimorfizmlerinin iskemik inme ve diğer risk faktörleri ile ilişkisi incelenmiştir. Gereç ve Yöntem: Çalışmaya 50 yaş altında toplam 64 adet iskemik inme geçiren hasta dahil edildi. Hastaların Bilgisayarlı Tomografi Anjiografi, Holter Elektrokardiografi, Transtorasik Ekokardiyografi, trombofili durumları ile baseline ve 1. ay Modifiye Rankin Skalaları kayıt altına alındı. Hastaların trombofili durumları ile kısa dönem iyilik hali arasındaki ilişki değerlendirilmiştir. Bulgular: Çalışmamıza 64 hasta (38 erkek, % 59.4) dahil edildi. Hastaların ortalama yaşı 42,48 ± 6,73 idi. En sık görülen polimorfizm MTHFRA1298T mutasyonu (% 18.8 homozigot, % 43.7 heterozigot) idi. İkinci sıklıkta MTHFRC677T mutasyonu ve üçüncü olarak da Faktör 5 Leiden mutasyonu (% 21.8 homozigot ve % 34.4 heterozigot) gözlendi. Hastaların % 7,8'inde atriyal fibrilasyon, % 17,2'sinde patent foramen ovale ve % 7,8'inde artmış pulmoner arter basıncı (> 30 mmHg) izlendi. Genç yetişkinlerde trombofili varlığı ve PFO’nun iskemik inme ile ilişkisi saptanmadı. Sonuç: Genç inmeli hastalarda birçok trombofili polimorfizmi mevcuttur ancak iskemik inme ile ilişkisi saptanmamıştır. Bu hastalarda iskemik inme ile ilişkili birçok klasik risk faktörü tespit edilmiş olup uygun şekilde tedavi edilmelidir. Diğer önemli bir faktör de patent foramen ovale varlığı olup iskemik inme ile ilişkisinin değerlendirilmesi için daha fazla çalışmaya ihtiyaç vardır.

Anahtar Kelimeler:

iskemik inme, trombofili, patent foramen ovale, atriyal fibrilasyon

Relationship between thrombophilia status and short-term outcome in young adults with ischemic stroke

Purpose: Ischemic stroke is a serious health condition in patients with young adults. This study aims to determine thrombophilia polymorphisms in young patients with ischemic stroke and associations with other risk factors. Materials and Methods: We evaluated 64 patients with ischemic stroke under 50 years old. Computerized Tomography Angiography, Holter Electrocardiography, Transthoracic Echocardiography, thrombophilia status, and Modifying Rankin Scale (MRS) in baseline and first month findings were recorded. We analysed the association between thrombophilia status and short-term outcome in young adults with ischemic stroke. Results: 64 patients (38 male, 59.4%) were included in our study. The mean age of the patients were 42.486.73. The thrombophilia status showed that the most frequent polymorphism was MTHFRA1298T mutation (18.8% homozygous, 43.7% heterozygous). The second was MTHFRC677T and the third polymorphism was Factor 5 Leiden mutation, of 21.8% was homozygous and 34.4% was heterozygous mutation. 7.8% of the patients have atrial fibrillation, 17.2% of them have patent foramen ovale, and 7.8% have elevated pulmonary artery pressure (>30 mmHg). Thrombophilia status and PFO were not associated with IS in young adults. Conclusion: Young patients with ischemic stroke have several thrombophilial polymorphism; however, we did not detect any association with IS. Young patients with ischemic stroke have also many classic risk factors which should be treated appropriately. Patent foramen ovale is another remarkable pathology and more researches are needed to realize its relation with ischemic stroke in young adults.

Keywords:

Ischemic stroke, thrombophilia, atrial fibrillation, patent foramen ovale,

PDF

___

1. Stack CA, Cole JW. Ischemic stroke in young adults. Curr Opin Cardiol. 2018;33:594-604.
2. Wang W, Jiang B, Sun H, Ru X, Sun D, Wang L et al. Prevalence, incidence, and mortality of stroke in china: results from a nationwide population-based survey of 480 687 adults. Circulation. 2017;135:759- 71.
3. Virani SS, Alonso A, Benjamin EJ, Bittencourt MS, Callaway CW, Carson AP et al.; American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee. Heart Disease and Stroke Statistics2020 Update: A Report From the American Heart Association. Circulation. 2020;141:e139-e596.
4. Giroud M, Lemesle M, Gouyon JB, Nivelon JL, Milan C, Dumas R. Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: a study of incidence and clinical features from 1985 to 1993. J Clin Epidemiol. 1995;48:1343-8.
5. deVeber GA, Kirton A, Booth FA, Yager JY, Wirrell EC, Wood E et al. Epidemiology and outcomes of arterial ischemic stroke in children: The Canadian Pediatric Ischemic Stroke Registry. Pediatr Neurol. 2017;69:58-70.
6. Kittner SJ, McCarter RJ, Sherwin RW, Sloan MA, Stern BJ, Johnson CJ et al. Black-white differences in stroke risk among young adults. Stroke. 1993;24:13- 15.
7. van Alebeek ME, Arntz RM, Ekker MS et al. Risk factors and mechanisms of stroke in young adults: The FUTURE Study. J Cereb Blood Flow Metab. 2018;38:1631-41.
8. Putaala J, Metso AJ, Metso TM, Konkola N, Kraemer Y, Haapaniemi E et al. Analysis of 1008 consecutive patients aged 15 to 49 with first-ever ischemic stroke: the Helsinki young stroke registry. Stroke. 2009;40:1195-203.
9. Putaala J. Ischemic Stroke in Young Adults. Continuum (Minneap Minn). 2020;26:386-414.
10. Pahus SH, Hansen AT, Hvas AM. Thrombophilia testing in young patients with ischemic stroke. Thromb Res. 2016;137:108-12.
11. De Stefano V, Chiusolo P, Paciaroni K, Casorelli I, Rossi E, Molinari M et al. Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood. 1998;91:3562-5.
12. Hamedani AG, Cole JW, Mitchell BD, Kittner SJ. Meta-analysis of factor V Leiden and ischemic stroke in young adults: the importance of case ascertainment. Stroke. 2010;41:1599-603.
13. Fekih-Mrissa N, Mrad M, Klai S, Mansour M, Nsiri B, Gritli N, Mrissa R. Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients. J Stroke Cerebrovasc Dis. 2013;22:465-9.
14. Janssen AW, de Leeuw FE, Janssen MC. Risk factors for ischemic stroke and transient ischemic attack in patients under age 50. J Thromb Thrombolysis. 2011;31:85-91.
15. Hamedani AG, Cole JW, Mitchell BD, Kittner SJ. Meta-analysis of factor V Leiden and ischemic stroke in young adults: the importance of case ascertainment. Stroke. 2010;41:1599-603.
16. Schellekens MMI, van Alebeek ME, Arntz RM, Synhaeve NE, Maaijwee NAMM, Schoonderwaldt HC et al. Prothrombotic factors do not increase the risk of recurrent ischemic events after cryptogenic stroke at young age: the FUTURE study. J Thromb Thrombolysis. 2018;45:504-11.
17. Hathidara MY, Saini V, Malik AM. Stroke in the Young: a Global Update. Curr Neurol Neurosci Rep. 2019;19:91.
18. Morris JG, Singh S, Fisher M. Testing for inherited thrombophilias in arterial stroke: can it cause more harm than good? Stroke. 2010;41:2985-90.
19. Chatterjee T, Gupta N, Choudhry VP, Behari M, Saxena R, Ashraf MZ. Prediction of ischemic stroke in young Indians: is thrombophilia profiling a way out? Blood Coagul Fibrinolysis. 2013;24:449-53.
20. Omran SS, Lerario MP, Gialdini G, Merkler AE, Moya A, Chen ML et al. Clinical impact of thrombophilia screening in young adults with ischemic stroke. J Stroke Cerebrovasc Dis. 2019;28:882-9.
21. Pahus SH, Hansen AT, Hvas AM. Thrombophilia testing in young patients with ischemic stroke. Thromb Res. 2016;137:108-12.
22. Smajlović D. Strokes in young adults: epidemiology and prevention. Vasc Health Risk Manag. 2015;24:157-64.
23. Ferro JM, Massaro AR, Mas JL. Aetiological diagnosis of ischaemic stroke in young adults. Lancet Neurol. 2010;9:1085-96.
24. Florez JC, Ay H, Van Cott EM, Buonanno FS. Patent foramen ovale and hypercoagulability as combined risk factors for stroke. J Stroke Cerebrovasc Dis. 2003;12:114-8.
25. Šaňák D, Hutyra M, Kral M, Bartkova A, Zapletalova J, Fedorco M et al. Paroxysmal atrial fibrillation in young cryptogenic ischemic stroke: A 3-week ECG Holter monitoring study. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015;159:283-7.
26. Šaňák D, Hutyra M, Král M, Bártková A, Zapletalová J, Fedorco M et al. Atrial fibrillation in young ischemic stroke patients: an underestimated cause? Eur Neurol. 2015;73:158-63.
27. Goeggel Simonetti B, Mono ML, Huynh-Do U, Michel P, Odier C, Sztajzel R et al. Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS). J Neurol. 2015;262:2025-32.