EFFECT OF HEREDITARY THROMBOPHILIA ON ARTERIAL THROMBOSIS

Ferda Can , Tansu Büyükgül , Nuray Yılmaz Cakmak , Ihsan Ates , Vehap Topcu , Said Furkan Yıldırım , Sema Akıncı
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Abstract

Objective

Screening for hereditary thrombophilia is recommended for venous thrombosis, but there is conflicting information about the causal relation with arterial thrombosis. In this study, in order to clarify these conflicting results and recommendations, it was aimed to determine whether there is a relation between arterial thrombosis and hereditary thrombophilia tests, to determine whether the treatment plan changes according to the test results of patients with hereditary thrombophilia panel, and t

Methodology

In this single-centre, non-intervention, retrospective cohort study, 200 patients over the age of 18 who were performed hereditary thrombophilia tests by various clinics between 12/02/2019 and 01/07/2022 were included. The patients had no history of disease predisposing to thrombosis, no rheumatological disease, negative antiphospholipid antibodies, and arterial thrombosis. As a control group, 50 patients without arterial and venous thrombosis were included.

Results

When the patient group with arterial thrombosis was compared with the control group, no difference was found in the risk of thrombosis in terms of factor V Leiden, prothrombin, Factor XIII, MTHFR 677, MTHFR 1298, PAI-1 gene mutation (p=0.084, p=0.82, p=1, p=0.65, p=0.064, p=1, respectively). In our study, no significant difference was found in the increased risk of thrombosis in the detection of thrombophilic gene tests in arterial thrombosis compared with the control group.

Conclusion

In our study, thrombophilia gene panel screening was not considered necessary in patients with arterial thrombosis, and it was observed that factor V Leiden, prothrombin, Factor XIII, MTHFR 677, MTHFR 1298, PAI-1 gene mutations in the hereditary thrombophilia panel did not lead to an increased risk of arterial thrombosis. Hereditary thrombophilia testing is not recommended in patients with arterial thrombosis according to current guidelines.

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遗传性血栓性疾病对动脉血栓形成的影响
目的:建议对静脉血栓形成进行遗传性血栓性疾病筛查,但关于其与动脉血栓形成的因果关系,存在相互矛盾的信息。为了澄清这些相互矛盾的结果和建议,本研究旨在确定动脉血栓形成与遗传性血栓性疾病检测之间是否存在关系,确定治疗方案是否会根据遗传性血栓性疾病患者的检测结果而发生变化,以及确定治疗方案与动脉血栓形成之间的因果关系。这些患者无血栓形成易感疾病史、无风湿病、抗磷脂抗体阴性、无动脉血栓形成。结果与对照组相比,动脉血栓患者组在因子 V Leiden、凝血酶原、因子 XIII、MTHFR 677、MTHFR 1298、PAI-1 基因突变方面的血栓风险没有差异(分别为 p=0.084、p=0.82、p=1、p=0.65、p=0.064、p=1)。在我们的研究中,与对照组相比,在动脉血栓形成中检测嗜血栓基因检测增加血栓形成风险方面没有发现明显差异。结论在我们的研究中,我们认为动脉血栓患者不需要进行血栓性疾病基因面板筛查,并且观察到遗传性血栓性疾病基因面板中的因子 V Leiden、凝血酶原、因子 XIII、MTHFR 677、MTHFR 1298、PAI-1 基因突变不会导致动脉血栓风险增加。根据现行指南,不建议动脉血栓患者进行遗传性血栓性疾病检测。
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来源期刊
CiteScore
2.40
自引率
4.80%
发文量
1419
审稿时长
30 weeks
期刊最新文献
PRELIMINARY RESULTS FROM A MULTICENTER PHASE 2/3 STUDY OF NEXT-GENERATION SICKLE HEMOGLOBIN POLYMERIZATION INHIBITOR OSIVELOTOR (GBT021601) FOR THE TREATMENT OF PATIENTS WITH SICKLE CELL DISEASE DOENÇA HEMOLÍTICA DO FETO E DO RECÉM-NASCIDO POR ALOIMUNIZAÇÃO RH - INQUIRIÇÃO NARRATIVA OFICINA DA MEMÓRIA:PROPOSTA DE REABILITAÇÃO COGNITIVA EM PACIENTES QUE VIVEM COM DOENÇA FALCIFORME LASERTERAPIA NO TRATAMENTO COADJUVANTE DA DOR DA NECROSE ASSÉPTICA DA CABEÇA DO FÉMUR NA DOENÇA FALCIFORME; RELATOS DE CASO ENERGIZE: A GLOBAL PHASE 3 STUDY OF MITAPIVAT DEMONSTRATING EFFICACY AND SAFETY IN ADULTS WITH ALPHA- OR BETA-NON–TRANSFUSION-DEPENDENT THALASSEMIA
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