Paradigm Shift for Endometriosis and the Potential Role of Genetic Testing – Going Beyond the 2022 ESHRE Guidelines for Endometriosis

Abstract

Abstract Endometriosis is a chronic inflammatory gynecological disease affecting 190 million women or 10% of women of reproductive age worldwide. The disease is marked by the presence of endometrial-like tissue outside the uterus, being associated in many cases with chronic pain and infertility. The current recommendations of international professional societies underline the need for laparoscopy, eventually followed by histological verification, as the gold standard for diagnosis. However, many societies recommend the initiation of specific treatment before obtaining a definitive surgical diagnosis. Various national and international societies have released guidelines for endometriosis assessment based on biomarkers; however, none of these recommendations proved to be clinically useful or able to replace diagnostic laparoscopy. In recent years it was demonstrated that oxidative stress, defined as an imbalance between reactive oxygen species and antioxidants that is directly linked with an increased inflammatory response in the peritoneal cavity, may be involved in the pathophysiology of endometriosis. The identification of a genetic predisposition for endometriosis can identify the patients at risk and may help clinicians promptly initiate therapeutic management of their patients in order to ameliorate their prognosis.