Endometriosis and the devastating risks of untreated disease

Two articles in CMAJ look at endometriosis from sharply different angles. One shows how devastating delayed recognition can be, following a patient whose deep infiltrating endometriosis led to renal atrophy, bowel obstruction, sciatic nerve impingement and a permanent ostomy. The other offers a more reassuring picture, finding only a small increased risk of congenital anomalies among infants born to patients with endometriosis. Together, they show why endometriosis deserves earlier recognition, better imaging and more serious clinical attention.

Dr. Sony Singh, chair of the Department of Obstetrics and Gynecology at the University of Ottawa and head of the Department of Obstetrics, Gynecology and Newborn Care at The Ottawa Hospital, discusses the CMAJ practice article, “Renal atrophy, bowel obstruction, and sciatic nerve impingement secondary to endometriosis”. He explains how deep infiltrating endometriosis can invade adjacent organs and cause severe fibrosis when left untreated.

Bailey Milne, a PhD candidate in epidemiology at Queen’s University, discusses the CMAJ article, Risk of congenital anomalies for infants born to patients with endometriosis: a population-based cohort study. She emphasizes that although the study found a small increased risk of congenital anomalies, the overall risk remains low.

For physicians, the episode highlights the importance of considering endometriosis in patients with cyclical pelvic, abdominal, bowel, urinary or sexual pain, even when initial imaging is normal.

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Transcript

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Dr. Blair Bigham I'm Blair Bigham. Dr. Mojola Omole I'm Mojola Omole, and this is the CMAJ Podcast. Dr. Blair Bigham So Jola, we're talking about a disease today that most people have heard of, but is maybe not the most respected of the diseases in Harrison's. Dr. Mojola Omole Yes, because we're talking about endometriosis. It seems that when diseases solely affect the gender that has uteruses, it often does not get the most attention whether that is in terms of what we've learned in medical school, but also when it comes to funding for management of them. Dr. Blair Bigham And not only is it maybe deemphasized, let's say, in medical training, but it kind of has this pejorative note to it, doesn't it? Like, oh, it's just chronic pain, it's really difficult to diagnose, it's really difficult to treat. What are we going to do, a laparotomy? Let's not even bother. It just feels filled with frustration for clinicians, but more so for patients. And today we have a CMAJ paper that actually highlights just how devastating this can be. Next on the CMAJ Podcast. Dr. Mojola Omole Dr. Sony Singh is the lead author of a practice article just published in the CMAJ. It follows a patient's harrowing journey with endometriosis to, unfortunately, a devastating endpoint, a dead kidney, a permanent ostomy, and a disease that went unrecognised for years. The article is titled, “Renal atrophy, bowel obstruction, and sciatic nerve impingement secondary to endometriosis.” Sony, thank you so much for being here today. Dr. Sony Singh Thank you for having me. Dr. Mojola Omole So let's just start with this one woman's journey. Can you walk us through what happened to her, how she presented? Dr. Sony Singh It's a story, unfortunately, that for your readers, maybe the first time they're hearing about this, but this is what I see on a daily basis, believe it or not. This is the devastation of a disease called endometriosis, which has been ignored, dismissed, and really not validated in our healthcare system. It hasn't been really recognised by society at large. And this patient's story is just the one aspect or one demonstration of this history. So this poor woman who is a refugee, who actually came from another country where she actually had to spend time at a refugee camp, came as an immigrant and was living with the extended family. But when she got here, she had severe pain, debilitating symptoms, impacting every system, as you can see from the title. And so she presented for care, but by the time she presented for care, she was hypertensive, she was unwell, and ultimately everybody thought she had a cancer, a gynaecologic malignancy. And after some investigations by the team at the hospital, it was discovered that she had this condition called endometriosis. So probably suffering with this condition, with the symptoms for many, many, many years. But when she finally came to our system, we picked her up at the endpoint of permanent damage. Dr. Mojola Omole So we talked a little bit, like, you know, the title of the article is that there's renal atrophy, bowel obstruction. So can we just talk about how we got there with this patient? Dr. Sony Singh You know, let's start with endometriosis then. The idea that endometriosis is tissue that's like the lining of the uterus that can grow anywhere else. And I think typically when you and I went through med school, perhaps we were taught that, you know, this issue of pain, it's so complicated. You know, women are just complaining. And there's these small black spots called endometriosis that might be sitting in different places. The problem is that that is just the surface discussion. And at the pathophysiology histologic level, it's also just the surface visualisation. But endometriosis, especially the deep form and infiltrating form, can invade into the adjacent organ. So as it develops in the posterior cul-de-sac, as it develops along the pelvic sidewalls, it can lead to obstruction of the ureters that lead to often silent kidney death like her. She didn't know that she had a dead kidney. And the only symptom you might catch is hypertension, especially since you have a second kidney that one will take over. And as the disease grows on the bowel, you can get an obstruction. And in her case, that disease just kept infiltrating and growing and growing unchecked, untreated for many years to the point where her bowel was so occluded that at this point, there's no way to reverse that because the disease goes all the way down to the perineum. It's unlike anything that we've seen. However, I see different variations of this condition in hopefully less severe forms because we pick it up earlier. Dr. Mojola Omole So what was the treatment for her when she presented with the bowel obstruction? Dr. Sony Singh So first and foremost, the treatment was to make a diagnosis. So before we even knew anything, she had gone through so many investigations, people thinking she had a malignancy. And so we had to get that diagnosis. And the kidney pretty much unsalvageable. There's no way to salvage it once the kidney is dead. And on the bowel side, she had other factors. So by the time that her bowel issues came up, we had offered her medical treatment while we were preparing for surgery. But she got admitted with a full-on bowel obstruction, was offered surgery by the surgical team, but declined because she had nobody to take care of her, nobody to support her. So she discharged herself and then got readmitted when she got so sick that finally a colostomy was performed. And at that point, we were going to plan on taking her back and taking, cleaning up all the disease. But there's actually no functioning lower rectum. So there is actually nothing to attach to. Dr. Mojola Omole So, so just for my clarification, like the endometriosis invaded so deep into a rectum that what did it do there? Dr. Sony Singh So imagine, you know, the lower rectum and the anus is a tube. This disease had infiltrated into a mass that's quite large. And I hope your readers do look at the pictures because we used our virtual reality modelling to help the patient understand, help our surgical team understand. And we had an interdisciplinary, multiple meetings about her, that the disease had infiltrated as that big red mass all around that lower part of the tube to the point of complete constriction. And basically the only way to extract all the disease is to do what we call a pelvic exenteration, which is what we reserve for cancer treatment. Well, and you're a surgeon too, so you know what I'm talking about. It's very challenging. It's not safe. Dr. Mojola Omole Wow. And so how, is this like an extreme case? Is this unusual or what are you seeing in your practice? Dr. Sony Singh So it's hard, right? You can't define a whole population by one person's practice. But again, I'm in Ottawa. We have a catchment area of 1.2 to 1.5 million. And right now, this is all I focus on is deep disease. So once a week, I have a long OR day that's 10 hours. And that's all I do is invasion of the bowel, the ureters, the bladder, diaphragm. And so, and our wait list now could be up to two to three years because there aren't many people doing this work. We have pockets of folks who are experts at this. There's some of my colleagues in Toronto and Hamilton, Quebec City. But short of just the hospitals trying to fund it under the global budget, there is no centre of expertise funding for this. And that's what's missing. And our new guidelines, which are coming out shortly nationally that I was a co-author on, is going to push to say you need to fund centres where these patients can go and hopefully would catch a patient like this 20, you know, when she was only 20 rather than now in her 30s. And we could have prevented all of this. Dr. Mojola Omole So I guess just in terms of understanding for our listeners, what exactly is going on in your body when you have untreated deep endometriosis? Dr. Sony Singh So there's a lot going on. The deep endometriosis, which is the most severe form of this pathology, is, especially if it's untreated, every month you're having turnover and bleeding inside the body. And when you bleed inside the body within this tissue, it results in severe fibrosis. So for example, some people would think, well, why don't you just cut out this disease around the rectum? It's not disease anymore. It's fibrosis. It is completely hard, like a rock. When you examine the patient, it feels like there's a rock blocking her whole lower rectum and the posterior vagina. And so just gentle palpation, even you just, there's nothing you can do once it gets to that point. So it constantly, every month with a period, you're getting that bleeding, you're getting that fibrosis, and it just gets worse and worse and worse to the point of obstructing these organs. The ideal is to get to it sooner. With the medical therapy we have, it doesn't cure it. That's the unfortunate thing. But it does stop the turnover. If you catch it early enough, you can actually prevent that progression until you can get to surgery. And some people, you hopefully prevent it so that it doesn't ever get to that severe fibrosis stage. But you do need to do something. But at this point, she's well past that point. And many, many of my cases, again, this is all I focus on is deep invasive endometriosis. Dr. Mojola Omole I guess the question is like, you know, for practitioners, oftentimes I find, because I get referred patients, because I also just do general surgery for pelvic pain of like, you know, abdominal pain. And, you know, because of my own experience with endometriosis, I'm like, well, this might sound like endometriosis to me. But what are some, like, because also sometimes they'll get imaging and the ultrasound is normal? Just, you know, what can help to prevent patients being left untreated and getting to deep disease? Like, what are some tips or, you know, that family physicians, nurse practitioners can do to better detect it? Dr. Sony Singh Already this type of podcast is part of the solution, is awareness. You know, the crazy thing that both of us know is this disease didn't just start in the last 20 years. This has been around for as long as, you know, we've had women with uteruses and ovaries and organs that could do this. It's just hasn't been dealt with. Yet in my career, and I finished residency in 2005, from the beginning, that time to now, it's been just massive increase in knowledge and awareness. So that's number one, awareness. Be aware and think about it. And I love the fact that you think about it, because when I started, we were getting lots of general surgeons who would open up patients or resect things and go, oh, it was endometriosis. But rather now we actually say we were getting referrals before that. Oh, it's endo? Let's get an endo specialist to work with us. So I think awareness, understanding of the symptoms, and then imaging. It sucks. Pelvic imaging for women's health is terrible around the country. And, you know, I know you focus on breast cancer as well, right? And one of the things is, can I, can I, I can't even imagine if I can introduce an idea to you that you would get a breast imaging that kind of says, there's a lesion there. That's the report. You'd be like, where? What does it look like? No, there's just a lesion. Well, I need some more help to get more detail. We don't do that. You would never accept that. But for endometriosis, those normal scans for deep disease, we did a study where 75% of the patients I saw early in practice here back around 2010, had normal pelvic ultrasounds in the community. And in our hands with expert ultrasonographers and sonographers or sonologists, they all had deep endo. And the reason that people were missing it is they don't, they didn't know what they're looking for. They didn't understand it and nobody was spending the time. And that still is the predominant situation in Canada. So I'm very fortunate we've invested in training, but also hiring experts who can see the disease, characterise it and tell us what we need to know so we can plan the most conservative surgery for patients. So in summary, advocacy and imaging. Dr. Mojola Omole I guess for me though, is that oftentimes what I see is that the wait list to see an endometriosis specialist is like two years. Just to even have a consultation. So if a family doctor doesn't, a patient is coming in complaining of, you know, constant abdominal pain, lower, you know, maybe it's worse around their cycle. Ultrasound is normal. And this is when I get them. And then I go through, we do a different history. But what do they do after that? Like they have to wait years to see you? Dr. Sony Singh No, so that's not right. First of all, I think that's why, that's good feedback to hear that that's the message you're getting, especially from a big major urban centre, that really within four to six months, somebody should be seen. The issue is the surgery time for us. So we can see people with findings of deep endometriosis. So what I suggest to the primary care provider and yourself is you find in the meantime, your imaging expert, who you know does good pelvic imaging, that you can get a scan that is reliable. But if their symptoms are telling you they have dysmenorrhoea, dyspareunia, dyskesia, and dysuria, and it's cyclically related, they likely have endometriosis. So that's a good start. Referring to a general gynecologist is also good because I give them the same message, get them started on medical therapy, do something and then get the advanced imaging. Advanced imaging is an expert guided ultrasound. And we are getting more and more centres trained on that. MRI as well, same thing. We've gotten normal MRIs. Meanwhile, the disease is sitting there. So again, knowing that you can give feedback and say, I really need you to look for endometriosis and have an expert. So this is not a problem that will solve tomorrow, but it needs to be solved. And can you imagine, again, we're talking about this in 2026. This has been going on for hundreds of years. And yet you would never as a surgeon, accept this for colon cancer or pancreatic or breast cancer that you say, oh, we just don't have imaging and there's a wait time. So I need the government to prioritise centres of expertise so that your patient waits one or two or three months to get the imaging, get the review because they are the sickest, right? Dr. Mojola Omole So is there anywhere in the world that has an approach to this that you would want to pilot in Canada? Dr. Sony Singh So we are the last first world country, except for the U.S. But Australia has a national action plan. Your listeners may not know that the Australian minister of health made a public apology to those who struggled with endometriosis to say they were let down. And this is now probably been about 10 years ago and said they're going to make a national action plan. So over that time, they have a national action plan. They have multiple centres across their country, which is smaller than ours in terms of population, who actually have primary care places for the evaluation of endometriosis. And you walk in, you see expert imaging, you see a family doctor who has expertise, you see a physio to help your pain. And then they've got centres of expertise you can go to. So Australia has a national action plan. The British have a national action plan. President Macron from France went on TV to do the same and said, you know, we are sorry that women with endometriosis have struggled. We're going to make a national action plan. I think Denmark was one of the first ones. So why don't we have a national action plan? And that is a group that I helped start called EndoACT many years ago, which was a lobby group to help promote this type of discussion. But there's something that I'm not getting at the provincial and federal level to understand what it takes to just get that right person to say, we need a plan. Because doesn't it make sense? We have bariatric centres of expertise. We have orthopaedic centres of expertise. Dr. Mojola Omole Because those things make the hospital money. Dr. Sony Singh But why do they make money? Because somebody has decided to make that a priority. If you made deep endometriosis a priority, we would change everything. And those young people, often young women, who are our workforce, they are our doctors. They are our nurses. They are our business people, caregivers. They do, basically women do, probably the brunt of all the work we ever need done. We get them back to work. Dr. Mojola Omole Dr. Mojola Omole I couldn't agree more regarding everything that you've just said. Thank you for joining us again today, Sony. Thank you. Dr. Sony Singh Thank you. Dr. Mojola Omole Dr. Sony Singh is the chair of the Department of Obstetrics and Gynecology at the University of Ottawa. And he's the head of the Department of Obstetrics, Gynecology and Newborn Care at the Ottawa Hospital. Thank you. Dr. Mojola Omole So this interview was very bleak. But now we're going to shift to another topic that gives a bit of hope to those who have endometriosis and want to reproduce. Dr. Blair Bigham Bailey Milne is a PhD candidate in epidemiology at Queen's University.

She is the lead author of the article in CMAJ titled, "Risk of congenital anomalies for infants born to patients with endometriosis: 2:22

a population-based cohort study", and she’ll be defending this summer. Congratulations Bailey, welcome to the podcast. Bailey Milne Thanks so much for having me. Dr. Blair Bigham Set the scene for us here. Why was this study important to do? What does endometriosis have to do with fertility? Bailey Milne Yeah, so just to give a bit of context, roughly 10% of reproductive age women or patients with a uterus have endometriosis. So among those, many of them will want to conceive, and there is a lack of literature that explains the risk for these patients in terms of infant outcomes. So we know that there are inflammatory conditions that can increase the risk of congenital anomalies, for example diabetes is one of them, and endometriosis is also an inflammatory condition. So we thought that it would be important to understand the risk of congenital anomalies for patients who have endometriosis, so that they can make informed choices and physicians can help them out. Dr. Blair Bigham So the mechanism is thought to be inflammatory. Bailey Milne Yeah, yeah, exactly. So it is not fully understood, but it is thought to be through inflammatory pathways. Dr. Blair Bigham And so to what extent did that sort of play into these concerns about fetal anomalies and endometriosis? Bailey Milne Yeah, so there were a few studies out of Denmark that had mostly looked at risk of genital defects in males for babies born to women with endometriosis. And we thought that it would be good to understand more generally the risk of all anomalies, since organ systems typically develop within the first trimester of a pregnancy. So there would be a similar risk kind of thing for many organ systems that are developing in that time. So we thought it would be good to look more broadly at organ systems, and then we had enough data to be able to look more specifically at the more specific anomalies like, tetralogy of Fallot, for example, or undescended testes. So we were able to estimate those risks as well. Dr. Blair Bigham And what did you find? What were the effects of endometriosis? Bailey Milne So there is increased risks of any anomaly, just measured broadly, did the baby have an anomaly, yes or no kind of thing. So then when we looked at organ systems, there was risk of cardiovascular, gastrointestinal, musculoskeletal, and genital anomalies, and neoplasms and tumours as well. So when we looked even more granularly, there were atrial septal anomalies, and other more specific cardiovascular ones, as well as cleft palate and then, as I mentioned, the undescended testes and other genital system anomalies as well. Dr. Blair Bigham So this can affect a baby in many different ways. Just a question, though, is how concerned should some—I am someone who has endometriosis. Thank God I am past my childbearing years. But how concerned should someone—how concerned should I be, let’s say I did want to have another child, that this increases the risk of congenital anomalies with my child? Bailey Milne Yeah, so overall the risk is very low, and the increase is very small. So I think that patients with endometriosis might be more followed throughout a pregnancy, but these are very rare outcomes, and I think that a patient can be generally reassured that their baby will most likely not have an anomaly. These are very, very rare outcomes, and the increased risk was really small. So overall, it is still reassuring. Physicians can maybe follow a pregnancy a little closer if a patient does have endometriosis, but yeah, overall the risk is still very low. Dr. Blair Bigham Can you give me sort of some of the—maybe a specific example where the risk is maybe a little higher? What are some of the defects that people should really be on the lookout for or aware of? Bailey Milne Yeah, so just generally speaking, the most common congenital anomalies in Canada are cardiovascular anomalies and undescended testes. So obviously the risk for the infant based on those two is different, if you have a cardiovascular anomaly you typically would require surgery within the first year of life to be able to survive, whereas an undescended testes maybe it is not like it’s life-threatening. So yeah, those would typically be diagnosed either through ultrasound or immediately after birth. And in Ontario we can screen for cardiovascular anomalies through the newborn screening system. So there are ways that these can be detected really quickly and then treated right away so that they don’t have as big a burden, at least in Canada and definitely Ontario. Dr. Blair Bigham And other than just the fact that endometriosis was present and maybe causing an inflammatory interaction, do we know anything else about the causes of these congenital anomalies? Bailey Milne Again, I think it is pretty under-researched, but we know that the oxidative stress and the inflammation can have epigenetic impacts on a fetus, a developing fetus, and can impact gene expression that way. So I think that is one hypothesis, but again, it is not super well known, and definitely more lab-based research would be required for that. Dr. Blair Bigham I know that this data is in a way groundbreaking. It is the first time we’ve had this wholesome look at what can happen to fetuses in mothers with endometriosis. So I don’t want to pin you down on what exactly we should do clinically differently. I know it is too early to say, but at the end of the day, the risk that you found is rather low, but the outcomes can be pretty important. What message do you have for family physicians or obstetricians about what they really need to keep in mind when one of their patients with endometriosis is pregnant? Bailey Milne Yeah, definitely, and I’m not a physician, so I don’t want to say anything too clinical, but I think it would be important for physicians to be aware of this risk mostly so that they, as I said, can monitor a pregnancy more closely, or have more ultrasounds, send them away for more ultrasounds, and just to be able to reassure their patients. If a patient comes across this study and is concerned, they can reassure them that the risk is low. And especially for many of these women, they have to go through fertility treatments to achieve pregnancy. And so in our study, we looked at—we kind of tried to break out the risk, so we know that fertility treatments can increase the risk of congenital anomalies, and so we wanted to break out the risk—so what is the main contributing factor, is it the fertility treatment or is it the endometriosis? So we were able to delineate those and say, so the risk through fertility treatment doesn’t entirely explain the increase of congenital anomalies, so endometriosis is contributing independently of the fertility treatments. So I think for patients who have conceived through fertility treatments, they’re more likely to be followed closer compared to someone who conceived without assistance. So I think if somebody does have endometriosis and a physician is aware of that, even if they haven’t used fertility treatment, they still should be followed closely and can just be aware of the risk so that they are aware when the baby is born, for example, to make sure that they’re looking for those physical cues of a cardiovascular disease, for example, and making sure that everything looks okay. Dr. Blair Bigham Fantastic. Thank you so much for joining us today. Bailey Milne Thank you so much. Dr. Blair Bigham Bailey Milne is a PhD candidate in epidemiology at Queen's University. Dr. Mojola Omole Okay Blair, I'm someone who lives with endometriosis, so not so much was surprising with our two guests today. I want to get your take. What were your thoughts as you were talking to both of our guests? Dr. Blair Bigham First of all, this case that exemplifies what happens when endometriosis is essentially ignored and picked up very, very late is mind-blowing to me. I knew endometriosis could be life-altering, I did not know it could lead to the need for such radical surgery and such horrible organ failure. So I am eyes wide open on this right now. I am sympathetic to the challenges that we've all sort of been told about when it comes to picking up, diagnosing, and managing endometriosis, but it does sound like we can tune our sensitivity here to at least start people on medical management early while waiting to get them set up for that gold-standard imaging, for that gold-standard treatment that comes late because the healthcare system just isn't built to find and manage endometriosis. Dr. Blair Bigham How did your endometriosis get picked up? Dr. Mojola Omole I can speak from experience with mine, even though I had a late diagnosis, I didn't have an advanced disease. And because of my proximity to healthcare, working in a hospital, I was able to get the diagnostic test needed and be on treatment. Does it 100% mean that I have a care-free life in terms of chronic pain? No, but it took me from having to be on the couch for two to three days and then sick for another week with chronic abdominal pain to maybe just having a bad few hours, half a day that I can get some movement in and I feel a lot better. So I would like to emphasize to clinicians that often times I get referrals for chronic abdo pain NYD. The first thing I go through with them is could this be endometriosis, could this be adenomyosis in terms of their symptomology, that it just needs to be in people's radar more often, and it's not just in those who are premenopausal, even some postmenopausal people still have these symptoms. Dr. Blair Bigham And as a mother who has endometriosis, how reassured are you by Bailey's research findings? Does that bring comfort to you or does that still leave you feeling a little bit worried? Dr. Mojola Omole Nah, I'm good, I'm not having any more kids. Obviously it is reassuring for those with endometriosis who want to have kids because I do think that as we're learning more about these chronic inflammatory states or these complex things that we've always tend to—whether it's migraines or endometriosis that we just kind of say, oh, it's in someone's head or it's not that severe—as we're learning more and more about them, it does make you wonder, this is a systemic disease. And so systemic disease have the ability to affect when you're carrying a child. So it is very reassuring. Dr. Blair Bigham So what are your top two or three takeaways as a clinician? What do we need to keep our eyes open for so that we don't end up with these devastating late organ damage cases? Dr. Mojola Omole For me everything starts with advocacy, is that we just need more advocacy when it comes to reproductive justice. And endometriosis is part of reproductive justice because it affects those who have the ability to reproduce. And so that to me is when talking to Sony, that really got me fired up is that we need to change this. I would not accept substandard imaging for breasts, and I don't. And so it should be the same for when you're doing pelvic organs. And that we really—and yes, it's always said, well, this brings in hospital funding XYZ, but if you make it bring hospital funding, it will get hospital funding. And this is a huge cohort of the population that's affected by it that is in their prime in terms of workforce and labour, and we completely relegate them to the wayside because we attach dollars to health. That's my first takeaway. Dr. Mojola Omole My second takeaway is that as clinicians, when you're having a patient with cyclical pain is to do a thorough history and find a diagnostic centre that you can trust to do this pelvic imaging and to do good ultrasounds, and then start them on treatment to get the referral to the gynaecologist. Dr. Blair Bigham That's it for this episode of the CMAJ Podcast. Thanks so much for listening. If you like what you heard, please like, share or rate the podcast wherever it is you download your audio. It really helps us get the message out. The podcast is produced by Podcraft Productions. Neil Morrison is our producer. Catherine Varner is senior editor on the podcast and deputy editor at CMAJ. I'm Blair Bigham. Dr. Mojola Omole I'm Mojola Omole. Until next time, be well.