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

T. Kirieieva, T. Pertseva, N. Kravchenko, B. Basina
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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.
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在无端肺栓塞发作的情况下,对血栓形成的基因检测
静脉血栓栓塞(肺栓塞(PE)和深静脉血栓形成(DVT))是世界上第三大心血管综合征,仅次于心脏病发作和中风。估计这种情况的临床概率需要考虑许多因素,包括年龄。但对于日内瓦评分(修订版)、威尔斯肺栓塞标准等量表中年轻患者数据的PE概率,PERC规则可能会产生误导。对于这群人来说,一个新的影响因素出现了——血栓症。我们工作的目的是基于一个年轻男性无端PE发作的临床病例,展示确定谁和何时检测血栓遗传易感性的方法。检测患者的血栓形成是一个很好的方法来开发一个个性化的方法,在情况下处方长期抗凝治疗。此外,患者对先天性疾病的认识有助于提高依从性,这是至关重要的,因为在接下来的5年里,在无因性肺栓塞的情况下,高达50%的病例会再次发作。此外,进一步积累和分析血栓形成遗传风险因素的数据将扩大我们对这一问题的理解,并在未来使我们能够更好地诊断和治疗这种疾病。
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