Endometriosis: Expert Answers to 7 Crucial Questions on Diagnosis
The notorious delay in diagnosis associated with this condition stems in part from its ability to mimic other diseases. The expert answers provided here are designed to help guide your assessment of the patient and achieve a timelier diagnosis.
Linda C. Giudice, MD, PhD, is the Robert B. Jaffe, MD, Endowed Professor in the Reproductive Sciences and Chair of Obstetrics, Gynecology, and Reproductive Sciences at the University of California, San Francisco. She reports that she receives support from NIH/NICHD for research on endometriosis pathophysiology and diagnostic classified development. Steven R. Goldstein, MD, is Professor of Obstetrics and Gynecology at New York University School of Medicine and Director of Gynecologic Ultrasound and Co-Director of Bone Densitometry at New York University Medical Center in New York City. He reports that he has an equipment loan with Philips Ultrasound. John R. Lue, MD, MPH, is Associate Professor and Chief of the Section of General Obstetrics and Gynecology and Medical Director of Women’s Ambulatory Services at the Medical College of Georgia and Georgia Regents University in Augusta, Georgia. He reports no financial relationships relevant to this article. Pamela Stratton, MD, is Chief of the Gynecology Consult Service, Program in Reproductive and Adult Endocrinology, at the Eunice Kennedy Shriver National Institute of Child Health and Human Development in Bethesda, Maryland. She reports no financial relationships relevant to this article. Janelle Yates is the Senior Editor of OGB Management, in which this article first appeared (2015;27[4]:38-40, 42-46).
2. HAVE ANY BIOMARKERS PROVED TO BE USEFUL DIAGNOSTIC TOOLS? Any biomarker proven to reliably identify endometriosis would be a boon to medicine, as it would provide a noninvasive or minimally invasive alternative to diagnostic laparoscopy, the current gold standard. Regrettably, the search for such a biomarker has produced “disappointing results,” says Dr. Giudice.
“Recent systematic reviews of all proposed endometriosis-related biomarkers over the past 25 years in serum, plasma, urine, and endometrium could not identify an unequivocally clinically useful biomarker or panel of biomarkers,” she notes.7,8 “This is due mainly to low numbers of subjects, small populations for validations, cycle/hormonal- and disease stage–dependence, poorly defined controls, and low sensitivity and specificity.”
One hopeful development: “Whole genome transcriptomics of archived endometrial tissue and machine learning found several classifiers to diagnose and stage endometriosis with high accuracy that were validated on an independent sample set,” says Dr. Giudice.9 “However, these data now warrant a prospective, multisite study for further validation.”
