Gavriș Claudia Mihaela, Nedelcu Laurențiu Dănuț, Pascu Alina Mihaela
Faculty of Medicine, 'Transilvania University' of Braşov, 500036 Brasov, Romania.
Exp Ther Med. 2021 Mar;21(3):287. doi: 10.3892/etm.2021.9718. Epub 2021 Jan 26.
Thirty-five years after it was first described, antiphospholipid syndrome (APS) is unanimously recognized as a systemic autoimmune disease, a major acquired thrombophilia, which can affect any arterial or venous vascular territory, explaining the great diversity of clinical manifestations. The current classification criteria updated in the International Consensus Statement for Definite Antiphospholipid Syndrome from Sydney cannot explain alone the unpredictable evolution with thrombotic events of the patients diagnosed with APS. Although the link to genetics and epigenetics has not been clearly defined as in other autoimmune diseases, it is clear that a proper stratification of thrombotic risk in the era of personalized medicine must include classic biological markers (antiphospholipid antibodies, aPL), along with the already recognized phenotypes, non-conventional serological markers, and additional genetic risk factors for thrombosis. Moreover, with advancing age, a patient with APS develops other thrombotic risk factors which include: hypertension and dyslipidemia among others. According to the classification criteria, a patient is considered to have a low, moderate or high thrombotic risk. In clinical practice, patients with the same risk score may have completely different evolutions in terms of the recurrence of thrombosis. Concerning this approach, it appears that new non-conventional serological markers, phenotype-assessment and genetic determinants have an increasing importance and should be reconsidered in a proper thrombotic risk evaluation in patients with APS, compared to the initial concept of APS as first defined.
抗磷脂综合征(APS)在首次被描述35年后,已被一致公认为一种全身性自身免疫性疾病,是一种主要的获得性易栓症,可影响任何动脉或静脉血管区域,这解释了其临床表现的多样性。悉尼《国际抗磷脂综合征确诊共识声明》中更新的现行分类标准,无法单独解释APS患者血栓形成事件的不可预测的病情发展。尽管与遗传学和表观遗传学的联系不像其他自身免疫性疾病那样明确,但很明显,在个性化医疗时代,对血栓形成风险进行适当分层必须包括经典生物学标志物(抗磷脂抗体,aPL),以及已被认可的表型、非传统血清学标志物和其他血栓形成的遗传风险因素。此外,随着年龄的增长,APS患者会出现其他血栓形成风险因素,包括高血压和血脂异常等。根据分类标准,患者被认为具有低、中或高血栓形成风险。在临床实践中,具有相同风险评分的患者在血栓形成复发方面可能有完全不同的病情发展。关于这种方法,与最初定义的APS概念相比,新的非传统血清学标志物、表型评估和遗传决定因素似乎越来越重要,应该在对APS患者进行适当的血栓形成风险评估时重新考虑。