The Genetics of Endometriosis

Disclaimer: While I am always careful to use reputable, peer-reviewed sources in my writing, I am not a doctor. You should neither take medical advice from me nor from a commercial DNA test. 23andme can tell you with 99% accuracy about the genes it tests for, but it does not test for nearly all of the millions of polymorphisms (a.k.a. variants in your DNA) that make us human beings unique individuals. Always have your 23andme results validated by a genetic counselor before making any medical decisions that could affect your long-term health.

I have always been fascinated by genes, ever since we did those Punnett Squares in the seventh grade (if you know, you know). If I were better at math and science, I would consider a career as a geneticist in a heartbeat.

Unfortunately, that is not my calling in life — but educating people about endometriosis is! So, I thought, why not nerd out about the genetics of endometriosis? For, y’know, educational purposes.

Back in college, David and I took the 23andme DNA test just for fun. (Out of nowhere, I found out I am 20% Greek, which explains my affinity for Mediterranean food.) When you take the 23andme DNA test, you can download your raw DNA file and upload it to all kinds of websites for analysis.

Because I’m a hypochondriac, that’s exactly what I did. But, in my defense, David did it first.

In fact, that DNA test was a big part of what sparked my journey into the medical system. I had been having bowel issues for awhile by then, and found out I was genetically susceptible to Inflammatory Bowel Disease (IBD). The rest, as they say, is history….though that colonoscopy prep still haunts me to this very day.

Every once in awhile, when I get bored, I’ll open my genome in Promethease and start scrolling through just for fun. Do you do that, too, or are you normal?

Out of curiosity, it occurred to me to check and see if I had any genes linked with endometriosis, the one disease I know that I most likely have. After that quick search, I wound up doing a lot of digging…much, much more than I anticipated.

As much as I know I should probably be studying for the GRE right now (I’m taking it in less than a week!), I figured I’d share some of what I learned about the genetics of endometriosis — and my own DNA — with you all.

How Do You Inherit Endometriosis?

Doctors have known for a long time that there is a genetic component to endometriosis. Without looking at specific genes, we know that endometriosis tends to run in families.

But how does endometriosis work for those of us who don’t have a history of endo in our families? If this is you, I’m in the same boat. No one in my family ever had the excruciatingly painful periods that I do — or, if they did, they never complained about it.

That’s where a little thing called gene expression comes into play. This is where genetics starts to get a little complicated, so bear with me!

You see, our genes are only half the battle when it comes to whether or not we develop a disease. Our genetics can increase our risk, but often, they must interact with our environment in a specific way before the disease actually develops.

In short, endometriosis has a genetic component, but it is also deeply linked to our environment. Anything from toxic chemicals in our surroundings to psychological stress can trigger a pathogenic gene response. These genes can also be “turned on” by specific sequences of noncoding DNA, located between pairs of genes.

If you have endometriosis but no one in your family does, it’s likely that they carry the same genetic mutations responsible for the disease — but, unlike yours, their environment did not trigger the development of the disease, or they do not carry the right sequence of noncoding DNA to activate the gene’s expression.

Genes Linked to Endometriosis

The most important thing to understand about endometriosis is that it is a polygenetic disease. That little word tells you a lot about the origins of endo: poly means multiple and genetic means, well, genes — in other words, endometriosis is influenced by more than one gene.

Unlike some other diseases, which are directly caused by mutations in a specific gene or chromosome, you don’t simply inherit one causative “endometriosis gene.” Instead, there is a complex interplay of all the polymorphisms (or genetic variants) present in your DNA that contributes to your endometriosis risk.

What Are Single Nucleotide Polymorphisms (SNPs)?

The genetic variants that contribute to the development of endometriosis are just tiny fragments of your overall genome. Over 99% of the human genome is identical in all human beings. Polymorphisms, those places where your genes vary from person to person, account for about 0.001% of human DNA.

You probably remember from your high school biology class that humans have 23 pairs of chromosomes, tightly-wound segments of DNA that encode everything from your eye color to the consistency of your earwax. Your genes are located on those chromosomes, where they’re made up of different pairs of amino acids that bond with one another. These bonds code for most of the variations in human DNA.

Variations arise from the different nucleotides — represented by A, C, G, and T — or building blocks that can pair with one another at that specific location. The “address” of that location is called a locus (plural: loci), and identifies the specific area of a gene that codes for a particular trait or disease risk. A lot of genetic research focuses on identifying the loci associated with different health conditions. Researchers do this by pinpointing the specific polymorphisms that are frequently shared by people with a disease at those loci.

Single nucleotide polymorphisms (SNPs) — pronounced “snips” — are the most common variations in human DNA, and represent a place where two people may have different nucleotides at the same locus due to genetic mutations passed down through human DNA. Many SNPs are shared by people whose ancestors originate from the same place. Geneticists have found over 100 million unique SNPs in populations across the world.

Genetic research related to endometriosis identifies SNPs that may be responsible for the development of endometriosis in some people, but not others. Where there is an SNP, there are typically three different combinations of nucleotides, or genotypes, possible for a human being. For example, if the possible nucleotides at that locus are C and T, a person can have the genotype C,C; the genotype C,T; or the genotype T,T.

What is a Risk Allele?

In genetics, each of the possible nucleotides at an SNP is referred to as an allele. The “risk allele” is the nucleotide linked to the development of a disease or trait. For example, say the above SNP codes for an increased risk of developing endometriosis. If T is the risk allele, then C,C is the “normal” genotype that does not increase endometriosis risk. Someone with the genotype C,T may or may not have an increased risk of developing endo, while someone with the genotype T,T would definitely have an increased risk of developing endo.

Whether or not you can inherit a trait or condition from a heterogenous genotype — meaning you carry one “normal” allele and one risk allele — depends on whether the trait is dominant or recessive. You probably remember learning about dominant and recessive genes in middle school, but here’s a refresher: if a trait is dominant, you only need one risk allele to develop it. If it is recessive, you need two.

Someone who carries one risk allele of a recessive trait is considered a carrier, meaning you cannot develop the condition yourself but may pass it down to your children. In order to pass a recessive trait onto your child, both parents must be carriers of at least one recessive trait, and the child must inherit two risk alleles to develop the condition.

Along with the complicated dynamics of gene expression, recessive patterns of inheritance are another reason why you might develop endo, even if no one else in your family has it. If you’re the first in your family with endometriosis, it might mean that your other family members are carriers of one or more risk alleles linked to the disease. Because you inherited two risk alleles instead of just one, you developed the recessive trait predisposing you to endo, while your other family members did not.

SNPs and Risk Alleles Associated with Endometriosis

The genetic differences across the human population arising from SNPs are small but mighty, and play an important role in who develops endometriosis (and who does not).

As an endo warrior, you don’t need me to tell you that research for our condition is drastically underfunded and underperformed. For a disease affecting 1 in 10 women, we know surprisingly little about the genetics of endometriosis. However, some recent studies have scraped the surface of identifying the reasons why some people develop endo while others do not.

By far the most influential genetic study of endometriosis was the 2012 study “Genome-wide association meta-analysis identifies new endometriosis risk loci,” published in the journal Nature Genetics. This study used a sample size of over 4,500 Japanese and European endometriosis patients to identify seven loci strongly linked to endometriosis. This study replicated the results of previous genetic research linking two of the loci to endometriosis and identified five novel loci that had not previously been identified.

The “endo genes” identified in this study are:

  • rs7521902 (risk allele A). This SNP is located on chromosome 1, on a gene called LOC105376850. Little is known about the gene beyond its well-established link to endometriosis, so it’s unclear why this SNP increases the risk of endo.
  • rs13394619 (risk allele G). This SNP is located on chromosome 2, on a gene caled GREB1. GREB1 plays an important role in coding for the proteins that bind to estrogen receptors. As a result, it plays an important role in the growth of endometriosis, as well as estrogen-dependent breast and prostate cancers.
  • rs4141819 (risk allele C). This SNP is located on chromosome 2, on a gene called LOC105374786. This SNP is linked, in particular, with Stage III and IV endometriosis involving the ovaries.
  • rs7739264 (risk allele T). This SNP is located on chromosome 6, on a gene called LOC100506885. Little is known about the gene beyond its link to endometriosis, so it’s unclear why this SNP increases the risk of endo.
  • rs12700667 (risk allele A). This SNP is located on chromosome 7, on an inter-genic region. A previous Australian study linked it with moderate-to-severe endometriosis. The Nature Genetics study linked it with endo in general, as did a 2013 replication study.
  • rs1537377 (risk allele C). This SNP is located on chromosome 9. The results of the Nature Genetics study were replicated in a 2015 study that confirmed the genome-wide significance of the SNP in conferring endometriosis risk.
  • rs10859871 (risk allele C). This SNP is located on chromosome 12, near a gene called VEZT. VEZT is a gene that encodes for a specific protein involved in the joining of cells at the membrane, which makes sense given that endometriosis is a proliferative process. This particular SNP is widely accepted as the SNP with the strongest link to endometriosis, and the results of the Nature Genetics study have been replicated many times. The A,C genotype is associated with a 1.2x higher risk of endometriosis, and the C,C genotype is associated with a 1.4x higher risk of endometriosis.

Since then, much of the research has focused on confirming the results of this genome-wide meta-anaysis, rather than identifying novel susceptibility loci for endometriosis. However, in 2017, 23andme published a study of results collected from its customers that found five new loci associated with the development of endometriosis.

The “endo genes” 23andme identified were:

  • rs1250241 (risk allele T). This SNP is located on chromosome 2, on a gene called FN1. FN1 codes for a protein called fibronectin, which is involved in cell adhesion. Certain types of fibronectin also prevent tumor growth and metastasis. This link makes sense since endometriosis is a proliferative process, and it has been surmised that genes regulating tumor growth may be defective in patients with endo.
  • rs1971256 (risk allele C). This SNP is located on chromosome 6, on an inter-genic region involving the genes RMND1 and CCDC170. RMND1 plays a role in translating messenger RNA (mRNA) into the proteins of the mitochondrial ribosome, while CCDC170 is a relatively mysterious protein-encoding gene that has been linked to breast cancer in addition to endo.
  • rs71575922 (risk allele G). This SNP is located on chromosome 6, on a gene called SYNE1. SYNE1 codes for a protein expressed in the skeletal and smooth muscle. This protein plays an especially important role in the brain, making its link to endo particularly interesting. It’s also worth noting that another 23andme study found a strong link between this gene and the development of uterine fibroids.
  • rs74491657 (risk allele G). This SNP is located on chromosome 7, on an inter-genetic band of the chromosome called 7p12. Notably, 7p12 contains the gene EGFR. EGFR stands for epidermal growth factor receptor, the protein it encodes for. EGFR activates the processes of cell growth and division, making it a logical link to endometriosis.
  • rs74485684 (risk allele T). This SNP is located on chromosome 11, near a gene called FSHB. FSHB codes for a component of follicle stimulating hormone (FSH), which plays an important role in regulating the menstrual cycle and reproductive organs. Appropriately, this SNP has also been linked to heavy menstrual flow.

What’s My Genotype?

The only definitive way to figure out your genotype is to have testing performed by a genetic counselor — but since these SNPs are correlational, not causational, for endometriosis, most doctors probably won’t suggest genetic counseling for endo.

If you are curious about your genetic risk for endometriosis, you can always take a direct-to-consumer DNA test like 23andme or Ancestry DNA. Personally, I took 23andme’s Ancestry test and skipped the Health test because it was so expensive. Instead, I downloaded the raw DNA file from 23andme and uploaded it to Promethease.

Promethease is a literature retrieval service — meaning that it won’t interpret your DNA or put you in touch with genetic counseling, but it will show you the conditions your DNA is linked to and studies that support those links. You pay $12 one time and receive lifelong access to your report, which I think is worth it.

Once you’re in Promethease, you can use the search function to type in the endometriosis SNPs above. Then, you’ll want to look at your genotype to see if you have a risk allele for endometriosis. Let me show you an example from my DNA report:

As you can see, I searched for rs10859871, the SNP most closely linked to endometriosis risk. My genotype is A,C. The risk allele is C, so my risk of endometriosis is 1.2x higher than average. However, combined with other genes that increase my risk, my overall risk of endometriosis may be much higher than this. That’s why it’s important to review more than one SNP to get a clear picture of your endo risk.

When using Promethease, I recommend completely disregarding the additional information, such as the “repute” of the gene or the SNP wiki entry it generates. Because anyone can edit the SNP wiki, it can contain a lot of misleading information — such as the retrograde menstruation theory you see above, which has since been disproven! Instead, I recommend you click on “more info” and carefully review the supporting studies linked in the wiki entry for the most accurate scientific information.

By reviewing my raw DNA, I found out that I have six genetic risk factors for endometriosis, not including the new ones discovered by 23andme. While it’s important to keep in mind that consumer DNA tests like 23andme are flawed, and that having these genes doesn’t guarantee you have endo, I think it’s incredibly fascinating to see how something as intangible as our DNA so strongly influences our reality.

Do I Have Bowel Endometriosis or IBS?

Those of you who have been following Endo Strong since the days when it was called “Lovely & Lazy” will remember that I originally started blogging about IBS, not endometriosis. That’s because, like 10 percent of endo patients, I was originally diagnosed with and treated for IBS. The first year of my journey with chronic illness was valuable, in that it taught me everything I ever needed to know about maintaining a healthy gut. Gut health is equally as important in endometriosis as it is in IBS. However, I remain frustrated that my family and I spent hundreds, potentially thousands, of dollars on tests and treatments that didn’t bring me answers, before discovering that my problem was in a completely different set of organs.

Over the 1.5 years I spent searching for answers, I was diagnosed with IBS, referred for SIBO testing, and underwent a breath analysis for H. pylori (the bacterium responsible for most stomach ulcers). I had a CT scan, upper endoscopy, colonoscopy, and transvaginal ultrasound that each turned up nothing, save for a couple of harmless “functional” cysts on my ovaries. I tried eating vegan and low-FODMAP, yet nothing helped. It took me over a year to notice that my symptoms were correlated with my menstrual cycle. And knowing what I do know about endometriosis, I’m not surprised.

It takes patients an average of seven years to be diagnosed with endometriosis. I started getting my period at age 10. Over the years, my cramps only worsened. My doctor had to sign a note allowing me to keep Aleve in the school nurse’s office for my cramps starting when I was 13 years old. At 15, I vomited in the nurse’s office when I got period cramps. I thought I had a 24-hour stomach bug at the time, but it turns out it was the period pain that likely caused my nausea. Not long after, I nearly fainted when I started getting cramps in the middle of a statewide standardized test. You weren’t supposed to leave the room during the exam, but my teacher was so worried about my pale appearance that she permitted me to go to the bathroom when I admitted I had my period.

Yet when I asked my (male) primary care doctor to go on birth control pills for my period pain, I wasn’t questioned about the extent or severity of my cramps. I was simply written the script and left to deal with the consequences. The pill helped the pain somewhat, until my depression began to worsen and I was forced to stop them. Soon after, I had an IUD inserted, in what was the most painful medical procedure of my life. (I now know that I have a retroverted, retroflexed uterus, and they were trying to insert the IUD in the wrong direction.) My cramps lightened again, but I continued to have long, heavy periods that lasted eight to ten days. (A healthy period lasts anywhere from three to seven days.) But all of this was bearable until I began experiencing gastrointestinal symptoms alongside my period pain.

In college, I started having alternating bouts of constipation and diarrhea. Every day, I was bloated — often painfully so — leading me to work out obsessively in pursuit of a “flat stomach.” On a few occasions, I even noticed blood in my stool. After I did 23andme with my boyfriend for fun, I discovered I carried a number of genes that raised my risk for Inflammatory Bowel Disease (IBD). My mom’s uncle has Crohn’s disease, so I decided to see the school doctor to get tested for biomarkers. They tested my sedimentation rate, which was normal, and preliminarily diagnosed me with alternating-type IBS. I got a referral to Boston Medical Center for gastroenterology services, where they tested my stool for calprotectin levels and occult blood, and confirmed the diagnosis of IBS-A.

During that time, I was technically on the low-FODMAP diet, but I was so afraid to exacerbate my symptoms that I was frequently skipping meals (or surviving on coffee and an underripe banana from the campus Starbucks) to cope with them. It didn’t get really bad, however, until I spent winter break visiting David in Erie, Pennsylvania, where he was finishing medical school at the time. After eating at Panera Bread, I got such painful stomach cramps that we decided to go to the emergency room. There, I was written a script for Bentyl (an anti-spasmodic that’s over-prescribed for IBS) and basically told I was overreacting. Refusing to give up, I scheduled an appointment with a nurse practitioner, who tested me for H. pylori and sent me in for a CT scan. I originally felt good that she was taking me seriously, but when the CT turned up naught but a functional ovarian cyst, she wrote off my pain as related to the cyst and told me to come back only if I worsened. To be honest, I felt so terrible already that I couldn’t imagine getting any worse — so I gave up on my medical quest for the time-being, and resigned myself to a life of suffering.

It wasn’t until I moved to Cleveland to live with David after graduation that I decided to keep pushing for answers. I saw a gastroenterologist, who did an upper endoscopy and biopsy for celiac disease, which also came back negative. I then had a colonoscopy, which came back — you guessed it — negative, too. After that, the doctor decided that I definitely had IBS-C, and told me my problems would be solved with a daily dose of Miralax. About a month later, after failing to see improvement with the Miralax (and feeling skeptical of relying on laxatives long-term, which can make your bowels dependent on them), I came back to ask if there was anything else he could do. I overheard him complaining about me to the nurse in the back room, saying that I was “noncompliant” and needed to be urged to take my Miralax. Following that appointment, I left in tears, and refused to go back to his office ever again.

To be honest, I don’t even remember how I came to the conclusion that I needed to pursue an endometriosis diagnosis rather than accepting I had IBS. All I know is my IBS diagnosis never sat right with me; I always had a gut feeling that something deeper was wrong with me. I had read Dr. Tamer Seckin’s book The Doctor Will See You Now when it came out, wanting to understand more about the problems women face in healthcare, and found it interesting, though not applicable to my life at the time. I guess I figured that since I hadn’t had painful period cramps for years, thanks to hormonal treatments, there was no reason to find out if I had endometriosis or not.

Now, I believe that I was drawn to that book for a reason — because somewhere deep down, I think I always knew there was something wrong with my menstrual cycles. But once I became diligent about tracking my IBS symptoms, I knew this for certain, as I began to notice a pattern that correlated with my menstrual cycle. For the first time, it occurred to me that my symptoms might be reproductive, rather than digestive, in nature. I pushed for an appointment at Cleveland Clinic’s Center for Pelvic Pain and Endometriosis, and haven’t looked back since. Now, I’m eagerly awaiting a diagnostic laparoscopy, and most likely excision surgery, for suspected endo.

At my first appointment, my doctor scheduled me for an MRI because she suspected deep infiltrating endometriosis (DIE), a form of endometriosis that infiltrates deeper than 5 mm into the tissue it grows on. Thankfully, my MRI came up negative for DIE, but it remains possible that I have superficial endometriosis on my bowel, or in areas adjacent to my bowel, that could be responsible for my symptoms (for example, endometriosis of the uterosacral ligaments or cul-de-sac can cause constipation by pushing on the bowel). Because I have a retroverted, retroflexed uterus, it’s also possible that my uterus obscured the radiologist’s view of my pelvic cavity and missed potential DIE lesions in those areas.

If you have painful periods and have been diagnosed with IBS, parts of my story might sound eerily familiar to you. 80 percent of endometriosis patients have gastrointestinal symptoms like bloating or constipation, and 18 percent have involvement — whether deep or superficial — of the bowel wall. It’s not at all uncommon to be misdiagnosed with IBS when you actually have endometriosis. Alternatively, you can also have both. If your doctors identify IBS as the cause of your symptoms and don’t ask about your periods, they may miss the fact that you could also have endometriosis.

This brings me to the Golden Ticket of questions for endometriosis patients: do I have bowel endometriosis or IBS? Or do I have GI symptoms of endometriosis, in other locations besides the bowel, that mimic IBS? Ultimately, the only way to answer that question in your unique case is to pursue a diagnostic laparoscopic surgery. A trained minimally-invasive gynecologic surgeon can definitively tell you if you have bowel endometriosis, or endometriosis that could result in bowel symptoms. In the meantime, however, it helps to learn everything you can about bowel endometriosis, as well as how any type of endometriosis could potentially affect your bowel. In this post, I’ll answer those questions, as well as sharing some of the self-management tips that have helped me cope with GI symptoms while I am (eagerly) awaiting diagnostic laparoscopic surgery myself.

What is Bowel Endometriosis?

Bowel Endometriosis: Symptoms, Why It Is Misdiagnosed, and How to ...
Image Source: Everyday Health

Outside of the fallopian tubes and ovaries, the uterosacral ligaments (the ligaments that support the uterus) and the cul-de-sac, or pouch of Douglas (the space between the uterus and rectum), are the two most common sites of endometriosis. Half of all endometriosis cases have superficial rectovaginal involvement. In these cases, endometriosis affects the bowel, or spaces adjacent to the bowel (like the cul-de-sac), without infiltrating deeper than 5 mm into the tissue. The top layer of tissue involved in superficial endometriosis is called the peritoneum or peritonial lining, so you may also hear it referred to as peritoneal endometriosis. This type of bowel involvement cannot be seen via MRI, CT scans, or ultrasound, and can only be definitively diagnosed via laparoscopic surgery. Sometimes, it cannot even be seen by the naked eye, so your surgeon may need to take biopsies during laparoscopy.

By this definition, bowel involvement is very common in endometriosis. Serious bowel involvement, which can require a type of surgery called resection to treat (in which parts of the bowel with deep endometriosis are removed and the two ends of the remaining bowel are reattached to one another), is less common, though still prevalent. 1 in 5 cases of endometriosis present with deep involvement of the intestinal organs. Severe infiltration of the bowel exceeding 5 mm in depth can usually be seen via MRI, CT scans, or ultrasound prior to surgery. If your doctor suspects deep bowel involvement, they may refer you for pre-diagnostic imaging before surgery to help them better plan for your laparoscopy. Should they discover deep involvement of the bowel that could require a resection, you might have to undergo bowel prep before surgery or meet with a specialized surgeon who deals with bowel resection.

How Endometriosis Affects the Bowel

Whether your endometriosis is deeply infiltrating or confined to the peritoneum, it’s more likely than not that you will experience some degree of gastrointestinal symptoms with your endo. You may have heard of “endo belly,” which is painful bloating associated with endo flares. Many patients with endometriosis also present with painful bowel movements (especially during their menstrual periods), constipation, diarrhea, and abdominal pain. Some even have dyschezia, or blood in their stool, during their menstrual period. These symptoms can indicate bowel endometriosis, but they aren’t specific to bowel endo. In contrast, deep dyspareunia (pain during sex) is another, more specific symptom that may signify rectovaginal involvement.

The fact that endometriosis patients experience so many bowel symptoms explains why endo is so commonly confused with IBS. Most doctors won’t ask you if your symptoms are correlated with your menstrual periods. Instead, they’ll hear your symptoms and refer you to a gastroenterologist, who deals with the digestive system. The GI doc will then want to run diagnostic tests like an upper endoscopy or colonoscopy to check for conditions like celiac disease or IBD. When those tests don’t turn up results, they’ll probably give you a “diagnosis of exclusion,” such as IBS — when in reality, your symptoms could be due to a disease of the reproductive tract, rather than one of the digestive system.

Unfortunately, specialists like gastroenterologists spend so much time studying and dealing with the digestive tract that they aren’t taught to look for, or even to recognize, endometriosis. Even if your symptoms scream endometriosis, they might not think to ask you about your menstrual periods. Or, they may have been conditioned to believe that painful periods are “normal,” and think nothing of your menstrual symptoms. This is a common reason why you, like me, might get stuck with a diagnosis of IBS, only to find that IBS treatments — such as laxatives or the low-FODMAP diet — don’t work for you. Science supports this finding, too: patients with endometriosis are 3.5 times more likely to be diagnosed with IBS than patients without.

Coping with Bowel Symptoms

Even if your endometriosis isn’t on or near your bowel, you might still experience symptoms like painful bloating, constipation, diarrhea, or vomiting, especially in connection with your menstrual period. Sometimes, symptoms might be caused by period pain — I’ve both vomited and gotten diarrhea from intense cramps — while other times, they might be connected to the location of your endo.

Regardless, it’s important to remember that the severity of your symptoms might not correlate with the extent of your disease. Someone with Stage I or Stage II endometriosis could have debilitating symptoms, while someone with Stage IV endometriosis might have no symptoms at all.

Either way, you won’t know how severe your disease is, or where it is located, without laparoscopic surgery. The best plan for long-term management of endometriosis symptoms, including GI distress, is to make an appointment with a minimally invasive gynecologic surgeon.

Many hospitals are resuming elective surgeries (read: any procedure that is planned in advance, as opposed to a sudden emergency) after suspending them due to COVID-19. Still, you might find that there’s a backlog of people who are rescheduling their surgeries due to the coronavirus. As a result, you may not be able to get in for surgery as soon you would like.

I’m right there with you. We had to cancel my surgery date after moving to Rhode Island for my boyfriend’s medical residency, and getting in anywhere has been nearly impossible thanks to COVID. In the meantime, however, my primary concern — and probably yours, too — has been managing my symptoms so I don’t feel miserable while I’m awaiting the date of my surgery.

Remember all those things I learned about good gut health while following the IBS rabbit hole? This is the part where those things come in handy. When it comes to IBS, changes in diet and lifestyle are the only treatments available. That might not be true for endometriosis, but that doesn’t mean that diet and lifestyle changes can’t help you improve your gut health and manage your bowel symptoms, regardless of the actual location of your endo.

1. Medical Management of Symptoms

While surgery is the most effective long-term treatment, many endometriosis sufferers get temporary relief from certain medications, both prescription and over-the-counter. Not all patients with endometriosis respond to hormone therapy, but for those who do, you may find that your bowel symptoms improve as your pain does. Hormone therapy for endometriosis includes birth control methods like the pill and the IUD, as well as GnRH medications like Orlissa. GnRH medications put the body into artificial menopause, so you stop getting a menstrual period. As a result, you may find that the symptoms associated with your cycle due to endometriosis also improve. Some people are not comfortable with artificially pausing their menstrual cycle, however, and may not want to try hormone therapy. Others may have unpleasant side effects from hormone therapy, such as vaginal dryness or depression.

Over-the-counter (OTC) medications can also provide short-term relief for GI distress. Which medication you should take depends on your symptoms and what other medications you might be taking. For constipation, there are many types of laxatives you can try to help you get relief. These remedies are inexpensive and available at your local drugstore. Most are very safe for short-term use. There are also OTC medications available for diarrhea, gas, and bloating that may provide temporary relief in some endometriosis sufferers.

Treatments for Constipation

Short-term constipation can be due to the location of your endometriosis or due to food intolerances related to endo. When endo grows in such a way that it presses on or narrows the bowel wall, constipation is the result. In these patients (myself included!), constipation typically worsens during the menstrual period. These patients may get relief from hormone therapy. However, other short-term remedies for constipation are available OTC. These take the form of laxatives.

Different types of laxatives work differently. As an endo sufferer who suffers from cyclical constipation, I sometimes feel like I’ve tried them all! As a result, I know the pros and cons of each type of laxative. You should always talk to your doctor before beginning a course of laxatives, but this information can help you determine which type may be most appropriate for you:

Fiber supplements can relieve long-term constipation that is due to a lack of fiber in the diet. Many endo sufferers may find that high-fiber foods cause gas or bloating. As a result, they may not consume enough dietary fiber and can suffer from constipation. In these cases, fiber supplements may be most appropriate. Fiber supplements come in the form of soluble fiber, which must be accompanied by plenty of water, and insoluble fiber. These supplements add “bulk” to the stools to help them pass more easily. Brands include Citrucel, Metamucil, and Benefiber. Personally, I have had the best experience with Citrucel or psyllium husk fiber, but you may want to experiment to find which brand is best for you. Fiber supplements are generally the safest option for long-term use. However, you should note that they can make constipation worse if you don’t drink enough water with them.

Osmotic laxatives draw water from the intestines into the stool to soften it and help it pass more easily. As a result, thirst can be a side effect of osmotic laxatives. You should always take them with plenty of water to replenish the water lost from their use. Osmotic laxatives include Milk of Magnesia, magnesium citrate, and Miralax. Miralax is a colorless, tasteless powder that you can mix into any drink. Magnesium citrate is a carbonated saline solution that comes in a variety of flavors. Milk of Magnesia is a derivative of magnesium and comes in liquid format. I find it works best if you take it with a warm liquid, such as coffee or tea. Osmotic laxatives are generally considered safe, but should not be used long-term, as your bowels can become dependent on them to work properly. They usually work overnight.

Lubricant laxatives lubricate the digestive tract to help stool pass through the colon more easily. They make your stool more “slippery” to decrease its transit time. I like oral lubricant laxatives the best of any laxatives, because I find they are the most gentle. However, they are also available as suppositories. Examples of lubricant laxatives include mineral oil and glycerin. Mineral oil can be taken by mouth. It has a bit of an unpleasant taste (it tastes like soap to me) but generally works within 6-8 hours. Glycerin or mineral oil suppositories are inserted into the anus and work as quickly as 15 minutes.

Emollient laxatives mix fluid into stools to soften them, helping them pass more easily. They are also called stool softeners. Your doctor may prescribe them for use after giving birth, after surgery, or if you suffer from hemorrhoids. It can take a week or longer for stool softeners to become effective. As a result, they are not a good “quick fix” if you are suffering from acute constipation due to endometriosis. However, they can be helpful after excision surgery to remove endo implants.

Stimulant laxatives are a last resort. They stimulate the bowels by forcing them to contract. This causes an almost instantaneous bowel movement. However, they are far from gentle, and can cause intense cramping and severe diarrhea. Stimulant laxatives include Dulcolax (bisacodyl) and senna. Watch out for senna in “detox” or laxative teas — they may claim to help relieve constipation, but like any stimulant laxative, they can cause diarrhea and cramping. Stimulant laxatives are not safe for long-term use. Long-term use of stimulant laxatives can weaken the bowel’s ability to contract naturally, leaving you dependent on these laxatives anytime you need to “go.” The only time I would use stimulant laxatives is in bowel preparation prescribed by my doctor. Bowel prep is prescribed before colonoscopy to clear the colon and improve the doctor’s ability to see the intestinal walls. It is also prescribed to some patients having excision surgery, especially if bowel endometriosis is suspected. Bowel preparation before surgery reduces the risk that fecal matter will leak into the abdomen during bowel surgery, which can cause dangerous infections.

Treatments for Diarrhea

Like constipation, diarrhea has many links to endometriosis. Inflammation of the bowel wall in bowel endometriosis may cause chronic diarrhea. You can also get diarrhea from intense period cramps. Diarrhea linked to your menstrual cycle may be due to endometriosis. Food intolerances, which are common in patients with endo, can also cause acute episodes of diarrhea.

Nobody loves having diarrhea — but thankfully, there are two effective OTC medications, called anti-diarrheals, that can help. Loperamide (brand name: Imodium) slows transit time, or the time it takes for stool to pass through the colon, by absorbing water into the intestines. Its side effects include abdominal pain, nausea, and constipation. Bismuth subsalicylate (brand name: Pepto-Bismol) can treat both diarrhea and upset stomach by reducing inflammation. Side effects include black stool or tongue, and constipation.

Be wary of overusing anti-diarrheal medications, as they can cause chronic constipation. If you have chronic diarrhea that requires long-term use of anti-diarrheals, make sure to check in with your doctor. They may want to examine your intestines via colonoscopy or upper endoscopy to see if you have inflammatory bowel disease or celiac disease, which can also cause chronic, watery diarrhea.

Treatments for Gas and Bloating

“Endo belly” is one of the most widespread symptoms of endometriosis. It can be uncomfortable, embarrassing, and even painful. It also affects body image and confidence, which can then impact our relationships. Endo belly can also be accompanied by gas, which is equally unpleasant. In the long-term, only excision surgery will cure your endo belly — but there are some short-term OTC solutions to relieve extreme, painful cases of bloating or gas.

Simethicone (brand name: Gas-X) breaks up the bubbles in trapped wind and helps gas pass through the digestive tract more easily. It may cause you to pass more gas or “fart” more at first, but the process of passing gas can relieve bloating and abdominal pain related to trapped wind. Simethicone comes in chewable tablets, which are often flavored. They are generally safe and can provide some relief, though there is little clinical evidence behind them. Some people also swear by activated charcoal. Taken before or after a meal, charcoal pills could reduce symptoms. I have not tried it, but there is limited clinical evidence to support their use. It’s also important to note that charcoal pills can interfere with the absorption of medications and stain your teeth and clothes.

Probiotics are OTC supplements that come in pill or powder form. I’m a huge proponent of probiotics — and of all the OTC solutions for gas and bloating, they have the most evidence behind them. They contain live active cultures of beneficial bacteria found in a healthy digestive tract. This healthy bacteria lives in the gut to keep unhealthy bacteria in check. Gut dysbiosis, or an imbalance of healthy and unhealthy bacteria in the gut, is common in patients with endometriosis. (You might also hear this referred to as small intestinal bacterial overgrowth, or SIBO.) The medical community debates whether or not probiotic supplements are actually helpful. Opponents say you shouldn’t waste your money: these supplements are expensive and not worth it, given that very few of the bacteria are alive by the time the supplement reaches your gut, and that even fewer are able to colonize the intestines. However, there are also plenty of proponents, and plenty of research to say that probiotics can play an important role in reducing GI symptoms like gas and bloating.

There are many probiotics available on the market today. Don’t be fooled by advertising. Instead, check the label. Any good probiotic should contain strains of lactobacillus and bifidobacterium, the two most well-researched strains of healthy bacteria used in probiotics. Your supplement should also contain at least one billion CFUs (colony-forming units) of said bacteria. Probiotics consume the healthy prebiotic fiber found in fruits and vegetables. Therefore, you should eat plenty of these foods to help sustain the growth of probiotics so they are more likely to colonize your gut. Probiotic supplements are safe for long-term use and may even have additional health benefits, such as reducing anxiety and depression. There are many brands, but way back in college, my gastroenterologist back in Boston recommended Align to me. Of all the types I’ve tried, Align remains my favorite.

2. Home Remedies for GI Symptoms

Now, I’m not saying you should try any sketchy Pinterest remedies for constipation, diarrhea, or bloating caused by endometriosis — but there are some tried-and-true at-home remedies that can help soothe GI symptoms.

For example, have you ever heard someone say “coffee makes me poop?” It’s true: a cup of coffee can be an effective remedy for constipation. Basically, your intestines contract rhythmically in a process called peristalsis that helps move food and poop along the digestive tract. Coffee appears to speed this process. We still don’t really know why this is the case, but it isn’t because of the acidity, the temperature, or even the caffeine. While caffeinated coffee can produce stronger effects, as it speeds the contractions of the intestines even more than coffee itself, decaffeinated coffee has been found to have the same laxative properties. If you suffer from diarrhea, you may want to avoid coffee for its laxative effects.

When you have diarrhea, eating a bland diet can help soothe your intestines and make your stool more solid. Growing up, my mom swore by the BRAT diet whenever we were sick — bananas, rice, applesauce, and toast — and it always worked. You may feel tempeted to choose whole-grain rice or toast for the health benefits, but when you have diarrhea, white may be the better option. This is because processed white grains contain less fiber, as the manufacturing process removes the germ, which is the part of the grain with the most fiber. When you want to poop, fiber is your friend — but when you are already pooping too much, it may be time to cut back.

I also swear by the healing properties of tea for just about anything, but especially for GI upset. As I mentioned previously, I recommend steering clear of laxative teas including senna, since this is a stimulant laxative that can cause cramps and diarrhea. However, other types of tea are well-suited to different GI symptoms. Peppermint tea can help with bloating, while ginger tea can soothe the digestive tract if you are suffering from nausea or diarrhea. Additionally, dandelion root tea may act as a mild laxative. Green tea is also thought to have a generally positive effect on digestive health and reduces inflammation, which is great news for endometriosis sufferers.

3. Managing Symptoms with Diet

Research shows that food allergies and intolerances, for whatever reason, are more common in people suffering from endometriosis. We still don’t really know why this is the case, but some doctors have proposed that the bodies of people with endometriosis are just more sensitive than others. Inflammation also links the two, as it plays a role in both endometriosis and food allergies. If you have endometriosis, it’s worth asking yourself whether your GI symptoms could be due to an underlying food intolerance or allergy.

Keeping a food diary can help you identify if you might have a food intolerance or allergy. This printable template was designed for IBS sufferers, but is generic enough for use with endometriosis, too. (You’ll find the Bristol stool scale below for rating your bowel movements.) Notice the days when your symptoms are worse, and see if there are any commonalities between them. Common culprits include gluten, dairy, and fructose. While the low-FODMAP diet was originally created for IBS, some endo patients also seem to be intolerant to FODMAPS, too.

How to Read the Bristol Stool Chart - Poop Types 1-7 • Seed
Image Source: Seed

Both food intolerances and allergies can be treated by avoiding the food that causes a reaction. However, it’s important to know the difference between the two. Allergies, unlike food intolerances, can have a long-term effect on your health. For someone who is lactose intolerant, eating milk accidentally may cause a few hours of upset — while for someone with a milk allergy, eating milk could have serious consequences, or even put their life in danger. An allergist can perform testing if you are worried your intolerance might actually be an allergy. In this testing, a small amount of an allergen is injected under your skin and the allergist will check for swelling at the site of injection. Similarly, a gastroenterologist can do blood tests and biopsies of the small intestine (during an upper endoscopy) to check for celiac disease, in order to distinguish it from non-celiac gluten sensitivity.

4. Improving Gut Health to Manage Symptoms

Of all the causes of GI distress, among both endometriosis sufferers and non-endo sufferers, poor gut health may be the most common. We live in a culture that promotes poor gut health. Heavily processed, low-fiber foods like sweets and chips don’t provide the nutrients needed to support healthy bacteria in the gut — yet these foods form the bulk of the American diet. We also live in a capitalist culture where we are told we need to be constantly productive, fostering an environment laden with chronic stress that takes a toll on gut health. As I shared in an old tweet, I once overheard a girl at my high school say that she “didn’t have time to poop” because she was so busy. Like, what?! Are you okay?!?!

But as much as I like to kid, good gut health is no joke. Our microbiome, comprised of the healthy bacteria in our gut, isn’t only responsible for the digestive tract: it supports everything from good mental health to a strong immune system. Good gut health is good health, period — which is why, endometriosis or no, we all need to take better care of our digestive tracts. Unfortunately, there’s a lot of misinformation out there about the gut, especially since gut health has become one of the latest Goop fads. So, setting aside the turmeric lattes and vaginal steaming — how do you actually promote a healthy gut?

I hate to be the bearer of bad news, but the magazine covers have got it all wrong: there’s no quick-and-easy secret to improving your gut health. Instead, it all boils down to things you’ve probably heard before and just didn’t want to have to implement. And trust me, I get it: I get that most of us hate running and would rather die than give up cake and wine. But at the end of the day, you can’t cheat your way into good gut health. You have to reduce the processed foods, sugary snacks, and animal products in your diet, and focus on whole grains, fruits, and vegetables that feed the digestive tract with healthy prebiotic fiber. Get enough sleep, reduce your stress levels, and maybe exercise a few times a week. It really is that simple.

If you want to go above and beyond, consider taking a well-researched probiotic supplement and consuming fermented foods that are also rich in probiotics. Sauerkraut, kimchi, kombucha, and kefir are all examples of cultured foods and beverages that contain gut-healthy probiotics. But it’s important to know that none of that matters if you aren’t creating a gut-healthy environment by laying down the foundations of diet, exercise, sleep, and mental health. You can feed your body all the probiotics you want, but they won’t be able to survive in a digestive tract that is stressed, tired, out of shape, and malnourished. In order for probiotics to work, you have to create the ideal environment for healthy gut bacteria to thrive.

MRI for Deep Infiltrating Endometriosis: What to Expect

When I first started this blog, I wrote a blog post about my upper endoscopy, which was a big hit with my readers. As a patient, it can be difficult to know what to expect from a procedure you’ve never had before. Many people turn to hospital websites and clinical YouTube demonstrations for answers, but these do little to assuage the anxiety about the procedure.

What always helps me is hearing from someone who’s been through it themself — which is why I’m taking the time to write about my MRI experience as an endometriosis patient. As of right now, laparoscopy is the only way to definitively diagnose endometriosis. However, a doctor might recommend an MRI if they suspect deep infiltrating endometriosis (DIE), a form of endometriosis where the endo implants deeply penetrate the healthy layer of tissue beneath.

An MRI can help doctors determine the location of endo implants to help plan for laparoscopic surgery. Because laparoscopy is both a diagnostic tool and a treatment, locating lesions ahead of time allows your surgeon to prepare, rather than flying blind. Cases of DIE are also more complex than the more common type of endometriosis, which is confined to the first 5 mm of tissue. Surgery for DIE may require careful planning. If the endo implants infiltrate nearby organs like the colon or the ureters, specialized surgeons may need to be brought in to consult on the best way to approach treatment.

Before my MRI, I had a lot of questions about what to expect. My questions weren’t just about the procedure, though — I also wanted to know what my MRI would tell my doctors about my endometriosis. After all, women are already questioned and oppressed in the medical system. I needed to learn everything I could so I could be my own best advocate for my care. At the end of the day, you know your body best, so if you’re certain something’s wrong, it’s important to keep pushing for answers.

MRI and Endometriosis

First, let’s talk about the role of MRI in diagnosing endometriosis. MRI on its own is not a diagnostic tool. The only definitive way to diagnose endometriosis is via diagnostic laparoscopy, a minimally invasive surgical procedure (known as “keyhole surgery”) in which a camera and surgical instruments can be inserted into the body through small incisions in the lower abdomen.

So, why might a doctor order an MRI for suspected endometriosis? MRI is reliable in diagnosing DIE, when endo implants exceed 5 mm in depth. DIE is found in about 20 percent of patients with endometriosis. As we mentioned previously, knowing whether or not to expect DIE — and where the DIE is located — helps your doctor prepare for surgery. MRI is also much less invasive than laparoscopic surgery, so if your endometriosis symptoms are mild, you may have an MRI and choose to hold off on surgery in the meantime.

MRI isn’t always a good choice for patients with chronic pelvic pain. When endometriosis isn’t strongly suspected, it may be ineffective, since it’s poor at identifying other causes of pelvic pain. In one study, more than half of women with chronic pelvic pain were diagnosed with unknown, or “idiopathic,” pelvic pain after a diagnostic MRI. 42 percent of patients in this study whose MRI results suggested a diagnostic laparoscopy wasn’t necessary would have benefitted from them.

MRI can reliably diagnose DIE, but falls short in identifying superficial endometriosis. (Despite this name, it’s important to remember that the depth of endometriosis lesions does not correlate with the severity of the patient’s pain.) Superficial endometriosis accounts for 80 percent of patients with the disease, making laparoscopy an essential procedure to officially diagnose or rule out endometriosis. MRI also fails to identify pelvic adhesions, or scarring, in roughly 80 percent of patients.

MRI produces few false positives, but many false negatives. As a result, many women who need care might be denied it after having a diagnostic MRI that fails to show evidence of DIE. However, MRI is superior to other forms of imaging in detecting endometriosis. Transvaginal ultrasound used to be a common tool to diagnose endometriosis, but is less effective than MRI in identifying indeterminate pelvic masses and detecting rectosigmoid endometriosis and endometriosis of the bladder. This is important, because some of the signs of endometriosis — such as irregular bleeding — overlap with those of uterine cancer. In some cases, an “indeterminate mass” may actually be a tumor, rather than an endometrial implant. Because ultrasounds are cheaper than MRIs, however, your doctor might still suggest you have an ultrasound before proceeding to MRI.

There’s only one case where MRI is superior to laparoscopy in diagnosing endometrial disease: adenomyosis. Adenomyosis is a form of endometriosis in which endometrial tissue grows into the muscle wall of the uterus. Because it exclusively affects the uterine wall and can only be seen deep inside the musculature, MRI is superior to the naked eye in detecting adenomyosis. If your symptoms suggest adenomyosis instead of or in addition to endometriosis, your doctor may suggest an MRI to rule it out.

How MRI Works

MRI stands for “magnetic resonance imaging” and uses a strong magnetic field to attract positively-charged protons in the body. In combination with different levels of radio waves, these magnetic forces produce distinct signals used to identify different pathology (or lack of pathology) in medicine.

Soft tissues like muscles, ligaments, and tendons, as opposed to bones, are well-seen on MRI. Different levels of magnetism are used to produce different images, as some organs are best seen at certain intensities. Alternatives to MRI include ultrasound and CT scans. We already explained ultrasound; as for CT scans, they aren’t generally used in the diagnosis of endometriosis and result in exposure to radiation that can become dangerous over time.

Almost anyone can safely undergo MRI. Because of the strong magnetic field used in MRI, however, people with metal implants — such as pacemakers or artificial joints — cannot have an MRI scan. People who are claustrophobic may also find MRI uncomfortable, since the scanner is a small, enclosed space. These people might opt for transvaginal ultrasound instead.

My MRI Experience

When I arrived for my MRI at the Cleveland Clinic’s main campus in downtown Cleveland, I was alone. After checking in with the receptionist, I was ushered into a separate waiting room, where I was the only patient. Another staff member spoke with me about the potential risks of the procedure, checking to make sure I hadn’t had any recent tattoos and that I had removed any metal piercings before leading me into the back to change.

During my MRI scan, I did not wear anything but a hospital gown and special matching pants. These pants were worn in the waiting room, but not during the procedure. I expect pants and underwear would have obscured the imaging, and they would have made it difficult to prepare for the next part of the procedure. After changing, I was ushered into a waiting room with several other patients, each having an MRI for a different reason. Then, finally, it was my turn.

I met with the woman operating the MRI equipment briefly before she took me into the room with the MRI machine. I took off the hospital pants and settled onto a cushioned platform, which slides into the MRI machine during imaging. She helped me get comfortable with pillows and a sheet, and provided me with two syringes of surgical lube to insert into my vagina once she left. This is supposed to help the radiologist see the vagina better in the MRI scan.

Once the radiologist left, I inserted the surgical lube. The radiologist communicated with me over a special microphone while in the other room. After I told her I was ready, she came back to adjust the magnetic plates on the machine above and below my pelvis while I lay back on the platform. This felt heavy, hard, and warm, but not painful or uncomfortable. She also gave me headphones to wear while the machine was running.

When the radiologist left and started the MRI machine, the first thing I noticed was how loud the machine was. The MRI machine makes loud banging, spinning, and clacking noises, which I admit made me feel a little nervous. If they are still loud with special soundproof headphones, I shudder to think how loud it would be without them! But the worst part was when the platform slid into the machine. The last thing she did was insert an IV tube, through which contrast would be pumped later in the scan.

Like a CT scanner, an MRI machine looks like a big tube — but instead of being a small section of a tube like modern CT scanners, it’s much longer. When you’re inside it, it feels much smaller than it looks. My heart began to race with anxiety as I began to feel the claustrophobia, but I used breathing techniques from therapy to soothe myself. I closed my eyes, focused on my breathing, and tried to relax.

The MRI itself was long — about 45 minutes of sliding back and forth in the machine, being asked to hold your breath and then exhale while the machine took pictures — which gave me plenty of time to get used to it. By the end, I wasn’t nearly as shaken as I was at the beginning of the procedure. Unfortunately, the anxiety had given way to boredom by then. If it hadn’t been so loud, I might have fallen asleep — but all I could do during the MRI was think about the small space I was in and focus on my breath. I was the radiologist’s last procedure of the day, so that might be why she didn’t play music or talk to me much during my MRI.

More than halfway through the scan, the radiologist pressed a button, allowing her to remotely inject contrast through my IV. By then, the scan was, thankfully, almost over. She only had to take a few more pictures using the contrast. Best of all, unlike the contrast used during a CT scan, it doesn’t make you feel warm or like you’re “wetting yourself.” It just feels like a normal IV.

At the end, the radiologist gave me plenty of cleansing wipes (an entire package, actually) to help me clean up the 11 mL of lube I’d had to inject before the procedure. She showed me where to retrieve my clothes and a bathroom where I could change and clean up in private. This is almost certainly TMI, but even with a thorough wiping, I still had lube dripping out until basically the next morning. It made the drive home a bit uncomfortable, to say the least — but the radiologist did offer me a couple of thick menstrual pads to help absorb some of the flow. After cleaning up, I was free to go.

I got my MRI results about two weeks later. There was a slight delay due to the fact that my MRI had been just before the New Year’s holiday and fell on a Friday. At long last, I learned from my doctor that my MRI showed no signs of DIE. Its only remarkable finding was that I had several ovarian cysts and a retroverted uterus.

My feelings upon learning this were mixed. I felt relieved that my surgery would likely not be complicated or result in bowel resectioning (my doctor previously suspected I might have bowel endo), yet disappointed that they hadn’t found anything to validate my suspected diagnosis. My doctors reassured me that they still believed I had endo and that surgery was worthwhile, but the words “no evidence of endometriosis,” written on the top of my MRI results, continue to dance through my head even today.

By now, the emotional rollercoaster of endometriosis is probably familiar to you. I can’t promise your MRI won’t bring up these uncomfortable feelings, but I can promise you that it’s not as scary as it seems.