Diagnosis of Endometriosis

Endometriosis can be a cruel and a devastating disease, leading to chronic pain and infertility in millions of women. Early and correct diagnosis is essential to select an appropriate treatment. Both underdiagnosis and overdiagnosis of endometriosis may have serious consequences: underdiagnosis may deprive the patients of appropriate therapies, whereas overdiagnosis may lead to unnecessary treatments associated with significant side effects and risks. Furthermore, the word endometriosis carries significant negative connotations, and wrong diagnosis may unnecessarily stigmatize the patient. Unfortunately, the correct diagnosis of endometriosis is often elusive; not only because of the inherent limitations of the current diagnostic armamentarium but also because the definition of endometriosis is controversial. According to the pathologic criteria, definition requires histologic detection of ectopic endometrial stroma and glands beyond the myometrium. This strict definition has two weaknesses. First, in some patients with clinically obvious and even severe disease, biopsy specimens may reveal only fibrosis, hemosiderin staining, or only one of the histologic components of the endometrium. In such instances, strict pathologic criteria fail to recognize a broad spectrum of histologic appearances of endometriotic lesions and natural evolution of lesions in the course of disease. 9 Paradoxically, the second problem with the strict pathologic criterion may seem the obverse of the first one and is caused by frequent detection of endometrial glands and stroma in entirely asymptomatic and fertile women. Thus, it has been estimated that the prevalence of asymptomatic but pathologically confirmed endometriosis in apparently healthy women undergoing tubal sterilization ranges from 6% to 43%. 36 , 39 , 41 , 48 Furthermore, microscopic foci of endometriosis were found in normal-appearing peritoneum, even in women with no evidence of gross endometriosis elsewhere. 51 , 54 It is conceivable that sufficient sampling may reveal microscopic lesions in most if not all women. Such microscopic endometriosis can hardly be considered a disease, especially in the absence of symptoms. In view of the above considerations, there is a growing skepticism and caution in diagnosing endometriosis on the bases of microscopic or minimal lesions, especially when the patient is asymptomatic. 30 , 46 , 86 The lack of a true “gold standard” test for endometriosis behooves us to exercise caution and to arrive at the diagnosis by careful interpretation of objective surgical and pathologic findings in the context of patient's clinical presentation. This article presents a framework for a diagnostic process whereby the patients selected on the bases of their clinical assessment (population at risk) are further evaluated by laboratory tests, imaging modalities, laparoscopy, and histologic studies.