University of Michigan-Pulmonary and Critical Care, 1500 E. Medical Center Drive, 3916 Taubman, Ann Arbor, MI 48109, USA.
Am J Respir Crit Care Med. 2010 Sep 1;182(5):598-604. doi: 10.1164/rccm.200912-1843CC. Epub 2010 Jun 3.
Significant heterogeneity of clinical presentation and disease progression exists within chronic obstructive pulmonary disease (COPD). Although FEV(1) inadequately describes this heterogeneity, a clear alternative has not emerged. The goal of phenotyping is to identify patient groups with unique prognostic or therapeutic characteristics, but significant variation and confusion surrounds use of the term "phenotype" in COPD. Phenotype classically refers to any observable characteristic of an organism, and up until now, multiple disease characteristics have been termed COPD phenotypes. We, however, propose the following variation on this definition: "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes (symptoms, exacerbations, response to therapy, rate of disease progression, or death)." This more focused definition allows for classification of patients into distinct prognostic and therapeutic subgroups for both clinical and research purposes. Ideally, individuals sharing a unique phenotype would also ultimately be determined to have a similar underlying biologic or physiologic mechanism(s) to guide the development of therapy where possible. It follows that any proposed phenotype, whether defined by symptoms, radiography, physiology, or cellular or molecular fingerprint will require an iterative validation process in which "candidate" phenotypes are identified before their relevance to clinical outcome is determined. Although this schema represents an ideal construct, we acknowledge any phenotype may be etiologically heterogeneous and that any one individual may manifest multiple phenotypes. We have much yet to learn, but establishing a common language for future research will facilitate our understanding and management of the complexity implicit to this disease.
慢性阻塞性肺疾病(COPD)患者的临床表现和疾病进展存在显著异质性。虽然 FEV1 不能充分描述这种异质性,但目前还没有明确的替代指标。表型分析的目的是确定具有独特预后或治疗特征的患者群体,但 COPD 中“表型”术语的使用存在很大差异和混淆。表型通常是指生物体的任何可观察特征,到目前为止,已经有多种疾病特征被称为 COPD 表型。然而,我们对该定义提出了如下变化:“单个或多种疾病特征,用于描述 COPD 患者之间与临床相关结局(症状、加重、治疗反应、疾病进展速度或死亡)相关的差异。”这个更集中的定义允许为临床和研究目的将患者分类为不同的预后和治疗亚组。理想情况下,共享独特表型的个体最终也将被确定具有相似的潜在生物学或生理学机制,以指导可能的治疗。因此,任何提出的表型,无论是通过症状、影像学、生理学还是细胞或分子指纹定义的,都需要经过迭代验证过程,在确定其与临床结局的相关性之前,确定“候选”表型。尽管这种方案代表了一种理想的构建,但我们承认任何表型都可能具有病因异质性,并且任何个体都可能表现出多种表型。我们还有很多需要学习,但建立一个共同的语言用于未来的研究将有助于我们理解和管理这一疾病所隐含的复杂性。