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From the JAMA Network, this is JAMA Clinical Reviews, interviews and ideas about innovations in medicine, science, and clinical practice. Here's your host. Hello, and welcome to our listeners around the world. Thanks for joining us.
I'm your host, Dr. Karen Lasser, professor of medicine at Boston University and senior editor at JAMA. Today, I am joined by Dr. Susie Asani, who is a professor of obstetrics and gynecology at the University of Michigan, and will be speaking about endometriosis. Welcome, Dr. Asani, to this JAMA podcast.
Thank you so much. It's such an honor to be here. So to begin with, what is endometriosis and how common is it? So endometriosis is a condition in which tissue that looks like the lining of the uterus spreads to organs outside of the uterus. So it can be on the ovaries, it can be on the surface of the uterus, but it could even invade the bowel or the bladder or organs outside of the pelvis, such as the
diaphragm, the lungs, and even the brain. We don't know exactly how common endometriosis is, but best estimates in the general population is that it affects about 10% of reproductive age women. But when you look at specific subsets, like for example, women with pelvic pain or women with infertility, the rates are much higher, somewhere between 30 to 50%.
Yeah, I was really impressed in the article that you wrote that it affects about 9 million women in the United States. Yeah, absolutely. It is an incredibly common condition, but one that is often very underdiagnosed and underrecognized.
Now, how does endometriosis typically present? So the most common presentation of endometriosis is some type of pelvic pain. So it could be any combination of pain with menstrual periods. It can be non-menstrual pelvic pain, and it can also include pain with sexual intercourse, pain with bowel movements, pain with urination. About 90% of women who have endometriosis have some type of pelvic pain symptom.
And how should primary care clinicians approach diagnosing endometriosis and what conditions are in the differential diagnosis?
Yeah, no, that's a great question because endometriosis, most commonly, the earliest symptoms often present in adolescents or in young women. And so it's often primary care physicians and even pediatricians that are the first providers that encounter patients with symptoms of endometriosis. What I would say is really the biggest alert is
to ask patients about their periods. Are your periods painful? And if somebody's periods are painful enough that it is interfering with their activities, their ability to go to school, their ability to work, their ability to engage and socialize with friends, endometriosis should be on the top of the differential diagnosis.
However, there are a lot of conditions that can cause pelvic pain. So these include both gynecologic as well as non-gynecologic conditions. In terms of gynecologic conditions, some of the things that we think about include adenomyosis, which is endometrial tissue that infiltrates into the muscle wall of the uterus.
It can also include conditions like uterine fibroids, like primary dysmenorrhea, which is painful periods, but without any pathology. There are also a lot of non-gynecologic conditions that can cause very similar symptoms of pelvic pain. So these can include things like
irritable bowel syndrome, chronic bladder pain syndrome, and another really commonly found condition, but very much underdiagnosed are myofascial pain conditions. So these are like musculoskeletal pain conditions. One of the most common of which is pelvic floor myofascial pain or high tone pelvic floor disorders. All of these conditions also frequently overlap
with endometriosis. So we know that in women with endometriosis, they're actually more likely to also have some of these other conditions coexist with their endometriosis as well.
And I thought a few interesting points that you also made in your article was that definitive diagnosis requires surgical visualization of lesions, but that a suspected clinical diagnosis can be made on symptoms and physical exam findings, correct? Yes, no, that's absolutely correct. And this has been a pretty important shift in
in various professional society guidelines over the past 10 plus years. Historically, endometriosis, the gold standard diagnosis, has been by surgical confirmation, either visually or by biopsy. And the reason is, is that endometriosis is
is a histopathologic diagnosis where you see endometrial glands and or stroma under the microscope in parts outside of the endometrial lining. But what's becoming increasingly recognized is that requiring a surgical diagnosis can delay care. And this is probably what contributes to
the average of seven to 10 years of patients experiencing symptoms before they get the proper diagnosis. And that because the symptoms of endometriosis can often be very effectively treated with medical management without requiring a surgical diagnosis, the movement has been to diagnose clinically based on symptoms supported by exam and or imaging findings and
and then initiate medical therapy. There are certainly some exceptions where medical therapy isn't the appropriate first step, but for the vast majority of patients, this is a really effective pathway for them. And you mentioned imaging. Which are the studies of choice for diagnosing endometriosis?
The first imaging modality that is generally recommended for any patient that comes in with pelvic pain is transvaginal ultrasound. And that is to look at the anatomy of the uterus, of the ovaries. We do want to recognize that traditional transvaginal ultrasound has
relatively poor sensitivity or poor ability to detect most forms of endometriosis. So the most common subtype of endometriosis are superficial peritoneal lesions, which really can't be picked up on almost any imaging modality. Transvaginal ultrasound does a really good job of picking up ovarian endometriosis cysts, which are called ovarian endometriomas.
And depending on the experience of the sonographer and the radiologist has a moderate ability to pick up deep endometriosis lesions, so lesions that penetrate the epithelium of organs such as the uterus sacral ligaments or even the bowel or the bladder. But those lesions tend to be relatively uncommon. So it's important to recognize that
Even if an ultrasound, a transvaginal ultrasound, for example, shows normal findings, that does not exclude the possibility of endometriosis and medical therapy could be considered in patients with those symptoms.
When we have a higher suspicion, the two more advanced types of imaging modalities include pelvic MRI with contrast, as well as something that's been named augmented pelvic ultrasound, where in addition to looking at
the anatomy, the sonographers are looking at additional findings such as the mobility of the uterus against the bowel. They look specifically for deep lesions behind the uterus and with the bowel. They look at the position of the ovaries because ovaries that touch each other posteriorly behind the uterus are also sort of some soft signs for deep endometriosis.
I thought it was really interesting in your review that you said a normal physical exam and imaging don't exclude the diagnosis. But I want to move on to talk a little bit about treatment. What is first-line treatment for endometriosis?
So first-line treatment includes hormonal suppression, and the reason for this is twofold. One is that endometriosis, like many other gynecologic conditions, is very estrogen-dependent, and suppression of overall estrogen levels can help suppress those lesions. The other critical thing to remember about endometriosis is that it is a chronic condition without a known cure.
And so even as we're moving through all of the different treatment options for patients, suppression of these lesions through the reproductive years is part of the foundation of the treatment outside of when a person is trying to get pregnant.
So in terms of first-line hormonal options, these include combined hormonal contraceptives, so like a traditional birth control pill or a birth control patch or vaginal ring. And an alternative to that, particularly for patients who have contraindications to estrogen, are progestin-only methods that can be given either in an injectable form or an oral form.
So when should patients with clinically suspected or confirmed endometriosis be referred to a gynecologist? The first thing I would say is that at any point that a primary health care provider feels that it's outside of their scope or expertise to discuss treatment options with patients or diagnostic options, that would be an appropriate time to refer to a gynecologist.
But in addition, for a primary care provider who's comfortable in prescribing first-line hormonal medications, I think it would be very appropriate for that provider to initiate treatment. And then only if a patient had persistent symptoms after at least three to four months of trialing, at least one treatment, if they had persistent symptoms of pain, then they could refer to a gynecologist.
Some other situations in which I would immediately refer to a gynecologist is for a patient who's actively trying to become pregnant because those first-line hormonal treatments are all contraceptives. And so those would be outside of scope for a patient who's trying to become pregnant. And that would be a time when we would likely consider moving directly to surgery. And then in patients who have any clinical signs or symptoms associated
of deep endometriosis or endometriosis outside of the pelvis, those patients should be referred immediately to a gynecologist. So for example, patients who are having significant pain with bowel movements, patients who are having blood in their stool or blood in their urine, patients who are having chest pain,
or any other signs or symptoms of extra pelvic endometriosis should be referred directly to a gynecologist. On imaging, patients who have ovarian endometriomas, typically greater than five centimeters or any imaging that would suggest deep endometriosis, those would also be patients I would refer directly to a gynecologist. Now you touched on this a little bit, but just to summarize again, when should surgery be considered?
Well, surgery is always a potential option for patients who are having symptoms related to their endometriosis. But surgery is not a definitive cure for any patient. And depending on what surgery is performed, anywhere between 10 to 25 to 30 percent of patients will continue to have symptoms.
Surgery is considered first line for some patients who have large ovarian endometriomas, particularly those who have imaging findings where we can't be certain that there isn't another pathology with that ovarian cyst, such as an ovarian cancer. Large ovarian endometriosis cysts are also at higher risk for ovarian torsion, and so that would be a reason to consider surgery. Very rarely patients can have deep endometriosis that causes surgery.
symptoms of bowel obstruction. Very rarely, deep endometriosis can cause obstruction of the urinary tract. And so those patients would not be candidates for medical therapy and should go immediately to surgery. The most common reason to have surgery is for patients who either
are trying to become pregnant and so are not candidates for medical therapy, or for those who have tried medical therapy and either unable to tolerate it and or have persistent symptoms despite medical therapy. So you touched on this a bit, but what is the relationship between endometriosis and infertility? And how should endometriosis be treated in the setting of infertility?
About a third of women with endometriosis have decreased fertility or difficulty becoming pregnant. It's important to explain to a patient that if she does have endometriosis, it does not mean that she will have infertility or that she will have difficulty becoming pregnant. But we do know that amongst women with endometriosis, their risk of infertility is higher than the general population.
In general, if I had a patient with endometriosis who was interested in becoming pregnant, the first thing that we would do is take them off of their hormonal suppression method, but then let them try to get pregnant on their own. And only if they weren't able to become pregnant on their own within six to 12 months of regular timed intercourse would I then consider referral to an infertility specialist.
Their fertility evaluation is similar to many other patients, and some of those patients with endometriosis will need assisted reproductive techniques. Now, is there anything else generalists should know about endometriosis that we haven't talked about?
In addition to the things that we talked about and the underdiagnosis of endometriosis, I would want to highlight that we're really beginning to understand endometriosis as a systemic condition. Outside of the symptoms of pelvic pain and infertility, we're beginning to recognize that endometriosis has
longer lifetime consequences for patients, you know, outside of just their reproductive health. So we know that patients with endometriosis are at a higher lifetime risk of developing cardiovascular disease, rheumatologic conditions. They have a higher lifetime prevalence of developing other pain conditions, like I mentioned previously. And so even outside of managing a patient's pain symptoms or infertility,
this disease does have a widespread body effect. This has been a great conversation. I'm Dr. Karen Lasser. I've been speaking today with Dr. Susie Asani from the University of Michigan about endometriosis. You can find a link to the article in this episode's description. This episode was produced by Shelley Steffens at the JAMA Network.
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