Department of Gynecology Obstetrics II and Reproductive Medicine, Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Universitaire Paris Centre (HUPC), Centre Hospitalier Universitaire (CHU) Cochin, Paris, France.
Department "Development, Reproduction and Cancer", Institut Cochin, INSERM U1016 (Doctor Vaiman), Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Hum Reprod Update. 2020 Apr 15;26(3):392-411. doi: 10.1093/humupd/dmz049.
Adenomyosis is a benign uterine disorder where endometrial glands and stroma are pathologically demonstrated within the uterine myometrium. The pathogenesis involves sex steroid hormone abnormalities, inflammation, fibrosis and neuroangiogenesis, even though the proposed mechanisms are not fully understood. For many years, adenomyosis has been considered a histopathological diagnosis made after hysterectomy, classically performed in perimenopausal women with abnormal uterine bleeding (AUB) or pelvic pain. Until recently, adenomyosis was a clinically neglected condition. Nowadays, adenomyosis may also be diagnosed by non-invasive techniques, because of imaging advancements. Thus, a new epidemiological scenario has developed with an increasing number of women of reproductive age with ultrasound (US) or magnetic resonance imaging (MRI) diagnosis of adenomyosis. This condition is associated with a wide variety of symptoms (pelvic pain, AUB and/or infertility), but it is also recognised that some women are asymptomatic. Furthermore, adenomyosis often coexists with other gynecological comorbidities, such as endometriosis and uterine fibroids, and the diagnostic criteria are still not universally agreed. Therefore, the diagnostic process for adenomyosis is challenging.
We present a comprehensive review on the diagnostic criteria of adenomyosis, including clinical signs and symptoms, ultrasound and MRI features and histopathological aspects of adenomyotic lesions. We also briefly summarise the relevant theories on adenomyosis pathogenesis, in order to provide the pathophysiological background to understand the different phenotypes and clinical presentation. The review highlights the controversies of multiple existing criteria, summarising all of the available evidences on adenomyosis diagnosis. The review aims also to underline the future perspective for diagnosis, stressing the importance of an integrated clinical and imaging approach, in order to identify this gynecological disease, so often underdiagnosed.
PubMed and Google Scholar were searched for all original and review articles related to diagnosis of adenomyosis published in English until October 2018.
The challenge in diagnosing adenomyosis starts with the controversies in the available pathogenic theories. The difficulties in understanding the way the disease arises and progresses have an impact also on the specific diagnostic criteria to use for a correct identification. Currently, the diagnosis of adenomyosis may be performed by non-invasive methods and the clinical signs and symptoms, despite their heterogeneity and poor specificity, may guide the clinician for a suspicion of the disease. Imaging techniques, including 2D and 3D US as well as MRI, allow the proper identification of the different phenotypes of adenomyosis (diffuse and/or focal). From a histological point of view, if the diagnosis of diffuse adenomyosis is straightforward, in more limited disease, the diagnosis has poor inter-observer reproducibility, leading to extreme variations in the prevalence of disease. Therefore, an integrated non-invasive diagnostic approach, considering risk factors profile, clinical symptoms, clinical examination and imaging, is proposed to adequately identify and characterise adenomyosis.
The development of the diagnostic tools allows the physicians to make an accurate diagnosis of adenomyosis by means of non-invasive techniques, representing a major breakthrough, in the light of the clinical consequences of this disease. Furthermore, this technological improvement will open a new epidemiological scenario, identifying different groups of women, with a dissimilar clinical and/or imaging phenotypes of adenomyosis, and this should be object of future research.
子宫腺肌病是一种良性的子宫疾病,其病理表现为子宫内膜腺体和间质出现在子宫肌层中。其发病机制涉及性激素异常、炎症、纤维化和神经血管生成,尽管提出的机制尚未完全阐明。多年来,子宫腺肌病一直被认为是在子宫切除术后做出的组织病理学诊断,经典的发病部位为围绝经期有异常子宫出血(AUB)或盆腔疼痛的女性。直到最近,子宫腺肌病才成为临床上被忽视的病症。如今,由于影像学的进步,也可以通过非侵入性技术来诊断子宫腺肌病。因此,由于越来越多的生育年龄妇女通过超声(US)或磁共振成像(MRI)诊断为子宫腺肌病,出现了一种新的流行病学情况。这种病症与各种症状(盆腔疼痛、AUB 和/或不孕)相关,但也认识到一些女性无症状。此外,子宫腺肌病常与其他妇科合并症同时存在,如子宫内膜异位症和子宫肌瘤,并且诊断标准仍未达成普遍共识。因此,子宫腺肌病的诊断过程极具挑战性。
我们提出了对子宫腺肌病诊断标准的全面综述,包括临床体征和症状、超声和 MRI 特征以及腺肌病病变的组织病理学特征。我们还简要总结了子宫腺肌病发病机制的相关理论,以便为理解不同的表型和临床表现提供病理生理学背景。该综述突出了多种现有标准的争议,总结了所有关于子宫腺肌病诊断的现有证据。该综述还旨在强调未来诊断的前景,强调综合临床和影像学方法的重要性,以便识别这种经常被漏诊的妇科疾病。
在 PubMed 和 Google Scholar 上搜索截至 2018 年 10 月发表的关于子宫腺肌病诊断的所有原始和综述文章,语言为英语。
诊断子宫腺肌病的挑战始于现有发病理论的争议。理解疾病发生和进展方式的困难也对用于正确识别的特定诊断标准产生了影响。目前,子宫腺肌病可以通过非侵入性方法进行诊断,尽管其临床表现具有异质性和特异性差,但仍可能指导临床医生怀疑该疾病。影像学技术,包括 2D 和 3D US 以及 MRI,可正确识别子宫腺肌病的不同表型(弥漫性和/或局限性)。从组织学角度来看,如果弥漫性子宫腺肌病的诊断是明确的,那么在病变范围较小时,诊断的观察者间重复性较差,导致疾病的患病率差异极大。因此,建议采用综合的非侵入性诊断方法,考虑危险因素谱、临床症状、临床检查和影像学,以充分识别和描述子宫腺肌病。
诊断工具的发展使医生能够通过非侵入性技术准确诊断子宫腺肌病,这是一个重大突破,因为这种疾病的临床后果严重。此外,这种技术改进将开辟一个新的流行病学领域,识别具有不同临床和/或影像学表型的不同女性群体,这应该是未来研究的课题。