Subscribe to Newsletter
Diagnostics Genetics and epigenetics

End o’ the Stigma

Menstrual stigma – “Why are you always so moody?” or “It’s just your period, get over it!” – can negatively affect clinical outcomes and mental health for women experiencing intense menstrual pain. But that’s also the reality for many women battling endometriosis – a highly undiagnosed disease.

Now, a genetic link between the condition and several mental health disorders (depression, anxiety, and eating disorders) has been found by researchers from The Yale School of Medicine, who conducted a large-scale genomic and epidemiological study (1). The results suggest that endometriosis should be considered from a more comprehensive perspective.

It is known that individuals suffering from chronic pain develop psychiatric disorders more often compared with those without. For several diseases, there is biological evidence for this association, but not much is known about endometriosis.

“Given that this debilitating disease affects 10 percent of women worldwide, we think it is important to investigate if we find a similar pattern to improve the quality of life of patients and also raise awareness,” says Dora Koller, postdoctoral fellow at the University of Barcelona, research affiliate at Renato Polimanti’s group at Yale University, and principal author of the study. “I also suffer from endometriosis, which was undiagnosed for 15 years, so I really wanted to know about such unexplored comorbidities of the disease.”

The research team used several methods to analyze samples from >200,000 women, including genetic correlation, Mendelian randomization, pleiotropy, and pathway analyses. The team demonstrated a genetic relationship between endometriosis, anxiety, and eating disorders for the first time, highlighting that chronic pain is not the sole factor explaining this association. In reality – and to the researchers’ surprise – women suffering from these psychiatric disorders might be predisposed to develop endometriosis, but the vice versa remains elusive. 

So does this deeper understanding erase the stigma of the disease? Not entirely, but progress has certainly been made, according to the researchers. “Endometriosis should be viewed as a chronic systemic disease, with manifestations beyond the reproductive system, affecting every aspect of health, and the quality of life of women,” says Koller. “Researchers, healthcare providers and the public should acknowledge that some patients with endometriosis are genetically predisposed to develop adverse mental health outcomes.” 

“We believe that advanced genomic methods will give the answers to many questions clinicians and scientists have about endometriosis. The most important aspects are developing non-invasive diagnostic tests and finding better therapeutic options to cure the disease.”

Receive content, products, events as well as relevant industry updates from The Pathologist and its sponsors.
Stay up to date with our other newsletters and sponsors information, tailored specifically to the fields you are interested in

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. D. Koller et al., JAMA Netw Open, 6, 1 (2023). DOI: 10.1001/jamanetworkopen.2022.51214
About the Author
Markella Loi

Associate Editor at The Analytical Scientist

Register to The Pathologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Pathologist magazine