Advances in approaches to diagnose endometriosis

Abstract

Endometriosis is a common, underdiagnosed, systemic inflammatory, and endocrine pain disorder that impacts the quality of life of millions of persons with a uterus globally. It is associated with chronic pelvic pain and an increased risk of subfertility. It has also been associated with cardiovascular disease, depression, thyroid and autoimmune disorders, ovarian and breast cancers, and poor pregnancy outcomes. Treatment of endometriosis-related pain and infertility can be medical and/or surgical, although misdiagnosis due to symptoms that overlap with other conditions and reliance on definitive diagnosis by histologic confirmation of endometriosis at surgery have contributed to a prolonged diagnosis-to-treatment timeline. A paradigm shift in endometriosis diagnosis is underway, with greater reliance on clinical and family history, physical examination, and imaging, without surgical confirmation, and then proceeding with medical and/or surgical therapies, although any one diagnostic approach alone is insufficient. Although there are no validated, specific molecular biomarkers for endometriosis, recent candidates have promise for diagnosing the disease and facilitating symptom management. This review presents current and evolving approaches to diagnose endometriosis with the goal of expediting the diagnosis-to-treatment timeframe, so patients can have confidence in a diagnosis for their symptoms, expectations set about disease management across the lifespan, and a patient-centered treatment plan promptly initiated. To provide context, the review begins with a summary of disease characteristics, followed by genetic and environmental risks for developing endometriosis, the central role of estrogen and inflammation in the pathophysiology of pain and infertility relevant to the disease and biomarker discovery, and nonsurgical approaches that are increasingly being acknowledged by professional organizations across the globe to be of value in the diagnosis of this enigmatic disease with diverse manifestations.