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Clinical Review State of the Art Review

Pathophysiology, diagnosis, and management of endometriosis

BMJ 2022; 379 doi: https://doi.org/10.1136/bmj-2022-070750 (Published 14 November 2022) Cite this as: BMJ 2022;379:e070750
  1. Andrew W Horne, professor of gynaecology and reproductive sciences1,
  2. Stacey A Missmer, professor of obstetrics, gynaecology, and reproductive biology, adjunct professor of epidemiology23
  1. 1EXPPECT Edinburgh and MRC Centre for Reproductive Health, University of Edinburgh, Edinburgh, UK
  2. 2Michigan State University, Grand Rapids, MI, USA
  3. 3Harvard T.H. Chan School of Public Health, Boston, MA, USA
  1. Correspondence to: A W Horne andrew.horne{at}ed.ac.uk

ABSTRACT

Endometriosis affects approximately 190 million women and people assigned female at birth worldwide. It is a chronic, inflammatory, gynecologic disease marked by the presence of endometrial-like tissue outside the uterus, which in many patients is associated with debilitating painful symptoms. Patients with endometriosis are also at greater risk of infertility, emergence of fatigue, multisite pain, and other comorbidities. Thus, endometriosis is best understood as a condition with variable presentation and effects at multiple life stages. A long diagnostic delay after symptom onset is common, and persistence and recurrence of symptoms despite treatment is common. This review discusses the potential genetic, hormonal, and immunologic factors that lead to endometriosis, with a focus on current diagnostic and management strategies for gynecologists, general practitioners, and clinicians specializing in conditions for which patients with endometriosis are at higher risk. It examines evidence supporting the different surgical, pharmacologic, and non-pharmacologic approaches to treating patients with endometriosis and presents an easy to adopt step-by-step management strategy. As endometriosis is a multisystem disease, patients with the condition should ideally be offered a personalized, multimodal, interdisciplinary treatment approach. A priority for future discovery is determining clinically informative sub-classifications of endometriosis that predict prognosis and enhance treatment prioritization.

Footnotes

  • Series explanation: State of the Art Reviews are commissioned on the basis of their relevance to academics and specialists in the US and internationally. For this reason they are written predominantly by US authors

  • Contributors: AWH and SAM contributed equally to the planning, analysis, and writing of the article. AWH is the guarantor.

  • Funding: AWH is supported by an MRC Centre Grant (MRC G1002033) and an NIHR Project Grant (NIHR129801).

  • Competing interests: We have read and understood BMJ policy on declaration of interests and declare the following interests: AWH’s institution (University of Edinburgh) has received payment for consultancy and grant funding from Roche Diagnostics to assist in the early development of a possible blood diagnostic biomarker for endometriosis. AWH has received grant funding from the MRC and NIHR for endometriosis research; he is a board member of the World Endometriosis Society and Society for Endometriosis and Uterine Disorders, is co-editor in chief of Reproduction and Fertility, has been a member of the NICE and ESHRE Endometriosis Guideline Groups, and is a trustee and medical adviser to Endometriosis UK. SAM has received payment for consultancy and grant funding from AbbVie, LLC, for population based research unrelated to product development and has received grant funding from the US National Institutes of Health, US Department of Defense, and the Marriott Family Foundations for endometriosis research. SAM is a board member of the World Endometriosis Society, World Endometriosis Research Foundation, American Society for Reproductive Medicine Endometriosis Special Interest Group, and the European Society for Human Reproduction and Embryology Special Interest Group on Endometriosis and Endometrial Disorders; a member of the Interdisciplinary Network on Female Pelvic Health of the Society for Women’s Health Research; and is a statistical advisory board member for Human Reproduction and field chief editor for Frontiers in Reproductive Health.

  • Provenance and peer review: Commissioned; externally peer reviewed.

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