Personalized medicine in rheumatology: the paradigm of serum autoantibodies.
Personalized medicine in rheumatology: the paradigm of serum autoantibodies.
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DOI：
10.1007/s13317-017-0098-1
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发表时间：
2017-12
期刊：
影响因子：
--
通讯作者：
Selmi C
中科院分区：
文献类型：
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作者：
Sirotti S;Generali E;Ceribelli A;Isailovic N;De Santis M;Selmi C
人类基因组测序现在被公认为是个性化医疗的起点。尽管如此，每个人都是独一无二的，尽管基因型相同，但同一种疾病可能会出现不同的表型，不一致的单卵双胞胎就是很好的例证。为了识别这些差异，能够识别和预测患者结果的生物标志物的最简单和最熟悉的例子之一是血清自身抗体。在这篇综述中，我们将描述个性化医疗的概念，并讨论抗核抗体（ANA），抗瓜氨酸肽抗体（ACPA），罕见的自身抗体和抗药抗体（ADA）的预测，预后和预防作用，以评估这些如何有助于识别不同的疾病免疫表型，并选择最佳的治疗和监测风湿病患者在日常实践中的选择。ANA的重要性在于预测系统性硬化症和系统性红斑狼疮的临床表现及其与恶性肿瘤的关系。ACPA在类风湿关节炎中具有预测作用，它们与RA患者中更侵袭性疾病的发展、关节外表现和过早死亡相关;此外，它们能够预测治疗反应。罕见的自身抗体与不同的疾病表现有关，也与癌症的发病率较高。ADA水平的测定可能有助于TNF-α抑制剂临床疗效下降的患者评估正确的治疗。由此产生的方案支持血清自身抗体作为自身免疫性疾病个性化医疗的基石。
The sequencing of the human genome is now well recognized as the starting point of personalized medicine. Nonetheless, everyone is unique and can develop different phenotypes of the same disease, despite identical genotypes, as well illustrated by discordant monozygotic twins. To recognize these differences, one of the easiest and most familiar examples of biomarkers capable of identifying and predicting the outcome of patients is represented by serum autoantibodies. In this review, we will describe the concept of personalized medicine and discuss the predictive, prognostic and preventive role of antinuclear antibodies (ANA), anti-citrullinated peptide antibodies (ACPA), rare autoantibodies and anti-drug antibodies (ADA), to evaluate how these can help to identify different disease immune phenotypes and to choose the best option for treating and monitoring rheumatic patients in everyday practice. The importance of ANA resides in the prediction of clinical manifestations in systemic sclerosis and systemic lupus erythematosus and their association with malignancies. ACPA have a predictive role in rheumatoid arthritis, they are associated with the development of a more aggressive disease, extra-articular manifestations and premature mortality in RA patients; moreover, they are capable of predicting therapeutic response. Rare autoantibodies are associated with different disease manifestations and also with a greater incidence of cancer. The determination of ADA levels may be useful in patients where the clinical efficacy of TNF-α inhibitor has dropped, for the assessment of a right management. The resulting scenario supports serum autoantibodies as the cornerstone of personalized medicine in autoimmune diseases.