Q&A: Delays in endometriosis diagnosis, treatment ‘multifactorial’

Key takeaways:

• Long delays are common when it comes to diagnosing endometriosis.
• Endometriosis awareness has increased, largely due to social media.

Long delays in endometriosis diagnosis are the result of factors spanning from lack of patient and provider awareness to insurance issues. Physicians should consider endometriosis when patients present with abdominal pain, an expert said.

On average, women in the U.S. have delays of up to 7 to 10 years for an endometriosis diagnosis. One of the biggest reasons for delay is that endometriosis presents with vague symptoms reminiscent of menstrual pain, so it is sometimes misdiagnosed or ignored, according to Jocelyn J. Fitzgerald, MD, assistant professor in the department of obstetrics, gynecology and reproductive sciences in the division of urogynecology and reconstructive pelvic surgery at the University of Pittsburgh.

“Social media has done more for endometriosis awareness than anything that we have done as a profession and anything that we have been able to do through traditional media,” Fitzgerald told Healio.

In an interview with Healio | Women’s Health & OB/GYN, Fitzgerald discussed how physicians can become more aware of endometriosis and its symptoms and how social media has made substantial progress in increasing endometriosis awareness among the public.

Read the interview transcript, edited for clarity, below and/or watch the Healio Video Exclusive series linked here:

• Video 1: ‘Normalized’ pain delays endometriosis diagnosis
• Video 2: Not all therapies offered for endometriosis are appropriate
• Video 3: When it’s ‘endometriosis until proven otherwise’
• Video 4: Social media increases endometriosis awareness, knowledge

[Video 1]

Healio: How common is endometriosis in the U.S. and how long are women waiting for diagnoses and care?

Fitzgerald: There's a lot of speculation that the epidemiology of endometriosis is underestimated. But right now, the number lies somewhere between one in 10 or one in nine women.

The average [delay for diagnosis] in the United States is 7 to 10 years, which is a long time. It's multifactorial. One [reason] is that we, as a medical profession, tend to be dismissive of menstrual or vague abdominal pelvic pain in women. We chalk it up to a lot of normalization of menses or another benign process. The other reason is that there aren't many practitioners who are well versed in symptoms of endometriosis; those that are tend to be subspecialist gynecologists.

There isn't a lot of awareness of endometriosis, though this is changing in internal medicine or emergency medicine or other surgical fields. That leads to a lot of delayed diagnoses. I've had patients say to me, “I thought that it was normal to have these symptoms as a woman and to have abdominal pelvic pain. It's normalized by my family and my friends and by our culture, so I didn't think anything was wrong until it got worse, and then I went to see a specialist.”

This doesn’t even dig into the access issues, how long it takes to get an appointment, insurance issues, transportation issues, the fact that specialists tend to be concentrated in urban areas and also that there's some big billing and pay inequity issues with endometriosis that tend to drive more endometriosis experts into cash-only private practices. So, it can take a long time to see somebody who can get to the bottom of your symptoms.

Healio: What is your take-home message?

Fitzgerald: Any type of physician needs to be aware of endometriosis. It's the classic “medical gaslighting disease,” because it has big, varied symptoms, the patient population is largely assigned female at birth, it’s related to menstruation, but also kind of not, it's poorly funded in terms of its research and also its clinical care, and it's poorly understood. But it can wind up in any organ system, and it can affect patients from head to toe.

I would say that if you have a patient with cyclic vague symptoms, particularly abdominal pelvic pain, but anywhere from their neck to their knees, and you can't figure it out, don't think to yourself, “Oh, I'm just going to send them to gynecology.” Think to yourself. “Endometriosis is on the differential diagnosis.”

The referral pattern for endometriosis management is through minimally invasive gynecologic surgery, which is a fellowship-trained subspecialist in endometriosis. That's the path that I would have you tell the patient to take, not that they shouldn't go through their general OB/GYN, they certainly could, but that's just one more visit that they have to wait for, that they then have to get another referral for. I would say to refer them directly to minimally invasive gynecology or urogynecology.

Even in the house of medicine, a lot of doctors don't know that OB/GYN is eight different fields of medicine, and that we have a lot of subspecialists, and you'll get the patient to the right care a lot faster.

[Video 2]

Healio: How is endometriosis diagnosed and treated?

Fitzgerald: This is a bit of a moving target, but the classic answer for diagnosis is that it has to be a tissue diagnosis, which means that you have to have surgery. It should almost always be a minimally invasive laparoscopic surgery, where a sample of tissue is taken out and sent to the lab for histologic analysis, which means they look under the microscope and see that the tissue that has been removed resembles the uterine lining, which is called the endometrium. It doesn't necessarily mean that that's where that tissue came from, but endometriosis got its name because, under the microscope, those inflammatory areas of tissue that are found in the abdomen laparoscopically resemble the lining of the uterus.

More and more as we get a little bit more sophisticated, there gets to be more awareness of endometriosis and more women go into radiology, we are coming up with more ways to image patients that will give clues as to the diagnosis. Ultrasound and MRI have been getting a little bit more sophisticated, and certain signs or elements of these images are becoming more pathognomonic for endometriosis, but that's very much a work in progress.

The short answer is that endometriosis is diagnosed with surgery.

The gold standard of treatment is excision, which means that the endometriosis is, as safely as possible, surgically removed in its entirety.

That sometimes can be a challenge. Endometriosis can be in any organ in the body, so often a multidisciplinary surgical team is necessary. Although minimally invasive gynecologic surgeons are sophisticated surgeons, many of whom operate from the diaphragm to the pelvic floor and can excise deep infiltrating endometriosis from any abdominal pelvic organ. The other ways endometriosis is treated are with medical treatments, which can range from pain control with anti-inflammatories and diet, stress reduction techniques, exercise, getting enough sleep and things that are known to decrease the inflammatory response in the body, but also medical management that involves hormones, or some sort of hormonal adjuvant therapy.

The classic [hormonal therapy] is a combination oral contraceptive pill, which is thought in some patients to suppress their hormones and might suppress some of the hormonal activity of endometriosis. The studies on how effective it is, particularly for pain, are mixed.

Then there are other medical treatments, like a medication like Orilissa (elagolix, AbbVie), and these medications are called gonadotropin-releasing hormone antagonists, they try to shut down the hormonal pathways of the endometriosis. There aren't a ton of medications that circumvent some sort of hormonal effects, which is a big gripe that patients and providers alike have because these medications have a lot of side effects.

The other way that endometriosis is treated, although this is in most endometriosis specialists’ opinion inappropriate, is with fulguration, which means burning endometriosis. Rarely is that an appropriate treatment. Then there are some surgeons who are not well trained in the management of endometriosis that will offer more radical things off the bat like hysterectomy, removal of tubes and ovaries in young women, and that is more like shared decision-making. I see all the time patients who, frankly, had inappropriate surgeries. They had their uterus and their ovaries removed at a young age, but their endometriosis itself was not excised because they weren't seen by an endometriosis surgeon. That's the spectrum of treatment.

Then of course we do things pre-and post-op, that's often where I come in as a pelvic floor specialist to manage the chronic pain components that endometriosis causes. Endometriosis can cause a tremendous amount of bladder discomfort, bowel discomfort, pelvic floor spasm, which is treated with physical therapy and sometimes injections and other pain medications or relaxation techniques. Just because endometriosis is removed doesn't mean that the effects of the disease are gone. So, we do have a lot of supportive treatments and rehab that we do afterwards.

[Video 3]

Healio: Are certain groups of women more likely to develop endometriosis? If so, why?

Fitzgerald: We do know that endometriosis has a genetic component. Patients who have female family members that have suffered with endometriosis are more likely to have endometriosis themselves.

In terms of demographics, we don’t have great demographic information about certain ethnic groups, for example, who might be more predisposed to endometriosis. A lot of endometriosis research has been done on white women, traditionally. There's been a real misconception that endometriosis is a “white woman's disease,” particularly a more “upper middle class white woman's disease,” and that's very much been disproven. Those are the patients who are able to both access care often in the U.S. and also are more likely to be believed when they come see a provider with their symptoms. They have more resources to follow up and see specialists and get multiple opinions. But there's no truth to the idea that endometriosis is a “white woman's disease,” so we have a long way to go to figure out the genetics of endometriosis.

Healio: What symptoms stand out as being related to endometriosis when physicians should start considering this condition?

Fitzgerald: The most classic are cyclic symptoms, which means the patient develops abdominal pelvic pain monthly, like painful periods, which is the most classic thing. I always say that painful periods that keep you from living your life, keep you from going to school, keep you from going to work, keep you from participating in sports and hobbies and the things that you love to do — that is not normal, even from a young age.

Teenage girls who are unable to participate in their life once a month or they have to miss school — that, in my mind, is endometriosis until proven otherwise.

The other symptoms that are common and often missed by a lot of urogynecologists are recurrent urinary tract infections that have negative urine culture, painful bladder with urgency and frequency that tends to come and go, a lot of pressure in the pelvis that is related to a sensation of needing to urinate and a lot of IBS-like symptoms like irritable bowel and constipation, diarrhea and pain with intercourse is a big one.

Patients who have either insertional pain in sex or deep pain with sex, a lot of pelvic floor tightness, patients who struggle to use the bathroom because they have so much pelvic pain and pelvic floor tension — those are sort of the most classic symptoms.

But anytime I hear something that's cyclic, even if it's something strange in the upper abdomen, I think of endometriosis. Bladder, bowel, sexual symptoms, I always think of endometriosis and then, of course, menstrual symptoms.

But there are a lot of other things that patients frequently report, like pain that radiates through their buttocks and glutes and down their legs, back pain from deep infiltrating endometriosis that's closer to the support muscles of the spine. The symptoms are wide-ranging.

And why is there such a delayed diagnosis? That is a big part of it. The classic symptoms of menstrual pain are not always the ones that bother the patient to the point that it drives them to see a provider. So, they're often misdiagnosed as something else. Endometriosis is tricky in that in that way, in that it can mimic other conditions.

[Video 4]

Healio: Have you had any experience with endometriosis information or misinformation on social media?

Fitzgerald: I tend to fill my algorithm with excellent providers who do provide some good information. Anyone who would claim that you could cure your endometriosis with any kind of supplements — that would be inaccurate. We have no data to support that. Anyone who says that you can cure your pain with any sort of single modality, you need to combine physical therapy with stress relief techniques, medication and maybe with surgery. Anyone who has a one stop shop for endometriosis, to me, that is a red flag.

I struggle with the idea of diagnostic laparoscopy. In patients that have chronic pelvic pain for many years, it was taught in OB/GYN that you could justifiably put a laparoscope in and look in their pelvis for endometriosis. Now that we have experts in endometriosis resection, I would argue that there are few indications for doing that in a patient who should just go for one surgery instead of two. If you're not prepared to operate on the endometriosis that you find or the pathology that you find in the pelvis, and your suspicion was high enough at the beginning that endometriosis was in there, you probably should be referring that patient to a specialist to begin with.

There are some rare circumstances in a well-counseled patient with a savvy provider who doesn't necessarily have the skills to remove the endometriosis, but the patient isn't necessarily prepared for a more radical surgery and just wants to know if they have endometriosis or not.

There are some people online who say that that is an appropriate use of a diagnostic scope and that is up for debate. I personally think that if you're suspicious of endometriosis to the point where you're taking someone to the operating room, but you don't have the skills to remove what you find — there's only so many things that chronic abdominal pelvic pain can be. So, if you're not prepared to treat the endometriosis that you find surgically, then you should just assume the patient has endometriosis and treat them medically anyway. It doesn't change your management. I'm not a huge fan of diagnostic laparoscopy. I don't think that is an appropriate level of care, but that is something that can be discussed between the patient and their provider depending on your goals and their geographic location and transportation, etc.

Healio: Is social media a tool for better awareness of endometriosis?

Fitzgerald: Social media has done more for endometriosis awareness than anything that we have done as a profession and anything that we have been able to do through traditional media.

Endometriosis has been known for hundreds of years, right? I have this textbook of practical gynecology. It's over 100 years old. If you read the chapter on endometriosis, it could practically have been written yesterday. Our knowledge of endometriosis has changed almost none since this book was written in the early 1900s.

But [endometriosis knowledge is] starting to accelerate thanks to hundreds of thousands or millions of people using their voice on social media and endometriosis being something that's part of the cultural conversation, something that women are refusing to let, frankly, destroy their life and sideline them from the things that are important to them.

My clinic is full of patients with endometriosis. If endometriosis was a men's disease — an incurable, debilitating, progressive and chronic abdominal pelvic inflammatory disease that had no cure — we would have had a cure decades ago. Social media has absolutely, 100%, galvanized and accelerated both the scientific community, the medical community and also the patient advocacy groups, as well as policy makers. We feel, in a matter of years, the amount of progress that's been made is outpacing decades of women's voices not being heard.

For more information:

Jocelyn J. Fitzgerald, MD, can be reached at @jjfitzgeraldMD on X (Twitter) and Instagram.