Endometriosis: A Long-Overlooked Disease at a Turning Point

Written by Aamir Wahhab

“Torture Grips” by Em Cooper offers a visual representation of endometriosis pain, described by the artist as “like torture [...] like somebody is gripping, squeezing, cutting, prodding, stabbing you inside and won’t let go.” Her work captures the lived experience of millions of people enduring chronic pelvic pain associated with this often invisible condition.

Endometriosis is a chronic condition that affects about 1 in 10 people with a uterus, yet it remains one of the most delayed diagnoses in medicine.¹ On average, patients wait 7 to 10 years to receive a diagnosis.² During that time, symptoms such as pelvic pain, painful periods, fatigue, and infertility are often dismissed, leading to significant impacts on daily life.³

The disease occurs when tissue similar to the lining of the uterus grows outside of it, most commonly on the ovaries, fallopian tubes, and pelvic lining.³ These lesions respond to hormonal cycles, triggering inflammation, scarring, and chronic pain.

Despite affecting over 190 million individuals worldwide, endometriosis has historically received limited attention in research and clinical care. This context makes recent advances in our understanding of the disease, its diagnosis, and management all the more important for patients or providers alike.

A Broader Understanding of the Disease

Endometriosis has traditionally been viewed as a hormone-driven condition, with the mainstay of treatment focusing on lowering estrogen levels. While this approach can help control symptoms, it does not fully explain why the disease varies so widely between patients.

Research now points to a broader biological underpinning in endometriosis involving dysfunction of the immune system.⁴ Normally, misplaced tissue would be cleared by the immune system. In endometriosis, this process is less effective, allowing lesions to persist and drive ongoing inflammation.

Endometriosis is also increasingly described as a neuroinflammatory condition, where inflammation interacts with pain-related nerve pathways.^5,6 This helps explain why pain can become chronic and sometimes persist even after lesions are treated.

Moreover, we now understand that symptoms of endometriosis are not limited to pelvic pain. Many patients experience gastrointestinal symptoms, fatigue, headaches, and mood changes.³ These overlapping features reinforce the understanding of endometriosis as a disease that affects multiple systems in the body.

Moving Toward Earlier, Less Invasive Diagnosis

Diagnosis remains one of the greatest challenges in endometriosis care. Until recently, a confirmed diagnosis required laparoscopy, a surgical procedure that allows visualization of the abdominal and pelvic organs. However, this procedure is not only invasive and expensive, but also contributes to significant delays in diagnosis.

Researchers are now developing non-invasive diagnostic tools, particularly blood-based tests.⁷ These tests measure substances in the blood that can signal the presence of disease. Several markers are under investigation, including:

• CA-125, a protein that can be elevated in endometriosis, although it is not specific enough on its own

• Inflammatory markers, such as IL-6, IL-8, and TNF-α, which reflect ongoing inflammation

• MicroRNAs (miRNAs), small molecules that regulate gene expression and appear to show distinct patterns in endometriosis

• Proteomic panels, which combine multiple proteins in the blood to improve accuracy

  
  

Newer approaches use multi-marker panels to increase diagnostic performance. While early findings are promising, no test is yet reliable enough for routine clinical use and further validation is needed.

Imaging-based diagnostic tests are also advancing. Improved MRI techniques, particularly when paired with artificial intelligence, are enhancing the detection of deeper or less obvious lesions.⁸

Together, these developments could significantly reduce the time to diagnosis by enabling earlier, less invasive detection. Ultimately, these developments would lower reliance on surgery and allow patients to begin treatment sooner.

Rethinking Treatment Approaches

Treatment of endometriosis has traditionally relied on hormonal suppression and surgery, both of which have limitations. Symptoms can recur after surgery, and hormonal therapies may cause side effects or limit fertility.³

Research is shifting toward therapies that target the underlying biology of the disease. These include approaches focused on inflammation, immune signaling, and pain pathways, as well as limiting the growth of blood vessels and nerve fibers that help sustain lesions.⁹

There is also growing interest in drug repurposing, where existing medications are tested for endometriosis, potentially speeding up access to new treatments.¹⁰

Toward More Personalized Care

Another significant challenge in the treatment of endometriosis is that it can present very differently across patients. What works for one individual may be futile in another.

Recent advances in genetic research suggest that endometriosis may not be a single condition, but a group of related forms.¹¹ In other words, patients who seem to have the same disease may actually have different underlying causes, which could affect how they respond to treatment. 

Moreover, large genetic studies have also identified links between endometriosis and other conditions, including chronic pain disorders, gastrointestinal diseases, and depression.³ Together, these insights may help guide more individualized treatment strategies in the future.

In research settings, scientists are also developing organoids, or lab-grown models of a patient’s tissue.¹² These models allow researchers to test how individuals might respond to different therapies, offering a glimpse into more personalized care.

The Future of Endometriosis

Endometriosis is finally receiving the attention it deserves. While recent advances represent meaningful progress, important gaps in research and clinical care remain. 

Endometriosis continues to be underfunded relative to its prevalence and impact on patients’ quality of life. Many patients still face long delays in diagnosis and limited access to specialized care. These challenges reflect broader issues in how women’s health conditions have historically been dismissed, underfunded, and understudied. 

Sustaining this momentum will require continued investment in research, improved access to care, and ongoing advocacy to ensure that emerging scientific advances translate into meaningful improvements in patient outcomes. 

The millions of people living with endometriosis deserve more than delayed diagnoses and limited treatment options. They deserve timely recognition, effective therapies, and care that reflects the full complexity of their disease.

References

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12. Boretto M, Maenhoudt N, Luo X, et al. Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening. Nature cell biology. 2019;21(8):1041-1051.