Endometriosis Myths & Facts: Dispelling the Misconceptions

Debunking the Myths About Endometriosis & Exploring the Facts

One in ten women worldwide is affected by endometriosis, also known as “endo,” for short. While this number is an estimate, the actual figures may be higher. Not only is the person with this inflammatory disorder affected, so are the family members and people around her due to the often debilitating effects of this disease. Endometriosis facts are important because it is complex and often misunderstood even though it’s a common disorder. Because of this, there are many myths and misconceptions regarding endometriosis prognosis, treatment, causes, symptoms, diagnosis, complications, etc. 

Focusing on the disease itself often ignores the vicious cycles of stress, fatigue, pain, doctor visits, flare-ups, and loss of productivity experienced by the patient. These factors can lead to a decreased quality of life. Worse is that endometriosis facts come behind outdated treatment options, myths, and misconceptions about this disorder. It takes an average of eight to ten years for a patient to be diagnosed with endometriosis. One of the biggest problems with the misconceptions about endo is that they can prevent women from seeking treatment. Keep reading as we review endometriosis facts and debunk the myths. 

Overview of Endometriosis 

Endometriosis is a pelvic disorder characterized by endometriosis tissue similar but not the same as the tissue inside the uterus, growing elsewhere. Typically, the growth occurs outside the uterus, ovaries, fallopian tubes, cervix, the surface of the bladder, bowel, and distant organs.

Endometriosis growths can cause pain, scarring, and sometimes infertility. Pain from endometriosis is usually the result of menstrual bleeding from the tissues. Unlike the endometrium inside your uterus, blood that comes from endo tissue outside this organ has no means of escaping the body. This blood causes increased pressure and inflammation, which can result in pain that’s often debilitating. If you would like to learn more information about endometriosis, please read our introduction article, “Endometriosis 101: Covering the Basics.”

Why is it Difficult to Diagnose Endometriosis?

Studies show that it can take an average of seven years or more for a woman to get an endometriosis diagnosis. Why is this? Endometriosis signs and symptoms are often similar to other conditions, such as irritable bowel syndrome or pelvic inflammatory disease (PID). Therefore, it’s often mistaken for another illness. Furthermore, the myths and misconceptions we discuss below also prevent a lot of women from seeking help. For this reason, it’s crucial to get the endometriosis facts clear. Keep reading as we debunk the myths and state the facts.

Myth #1: Severe Period Pain is Normal

Nineteenth-century doctors were often perplexed by “women’s problems.” As a result, women were often discounted as being unstable mentally. While the attitudes and thoughts have improved since, some of those old beliefs persist, including those regarding period pain.

Many patients with endometriosis hear that their severe period pain is “normal.” Pain and cramping are normal during menstruation. However, the pain should not be so intense that it interferes with functioning or impacts the quality of life. If your period pain is so severe that you cannot carry out daily activities, you should seek an endometriosis expert.

Myth #2: A Hysterectomy Cures Endometriosis

Endometriosis growths are tissues “similar” to those inside of the uterus. It is not the same tissue. Simply removing the uterus and/or ovaries without excising any endometriotic implants growing outside the uterus will not cure it. 

Myth #3: Endometriosis Only Affects the Pelvic Area

Locations within the pelvis, such as the surface of the uterus, bladder, or fallopian tubes, are the most common locations where endometriosis growths occur. However, endo can occur elsewhere in the body. In some cases, endometriosis growths have been present in distant organs, such as the lungs. 

Myth #4: Endometriosis Symptoms are Simply a “Heavy Period”

Bleeding during menstruation can be heavy at times. However, it should not exceed the saturation of a pad or tampon in one hour. If you experience that degree of bleeding, you should bring this up with your healthcare provider. The fact is that many women with endometriosis experience abnormally heavy flow due to the excess tissue.

Myth #5: Douching Causes Endometriosis

No scientific evidence links douching with the development of endometriosis.

Myth #6: Having an Abortion Can Cause Endometriosis

No scientific evidence demonstrates that having an abortion causes endometriosis. Those who claim otherwise might be confusing endometritis and endometriosis.

Myth #7: You’re Too Young to Have Endometriosis

A common misconception is that endometriosis is rare or doesn’t occur in young women and teenagers. As a result, many doctors do not consider an endometriosis diagnosis in young women with typical symptoms. Endometriosis facts demonstrate that teenagers and women in their early 20s can have the disorder. Most people with endometriosis state they experienced endo symptoms during adolescence. 

Myth #8: Endometriosis Can Be Prevented

It’s not clearly understood what causes endometriosis. Therefore, there are no proven ways to prevent this inflammatory condition. Anything else is purely speculation at this point.

Myth #9: Endometriosis is Always Painful

Not all women with endometriosis experience pain. Studies show that some women with advanced stages of endometriosis do not experience pain as a symptom.

Myth #10: Pregnancy is a Cure for Endometriosis

This misconception about endometriosis is slowly beginning to fade. However, not quickly enough! Pregnancy fluctuates hormones in the female body, which can temporarily suppress some symptoms of endometriosis. However, these symptoms usually recur for most patients following the pregnancy. Therefore, it’s not a cure.

Myth #11: Menopause Cures Endometriosis

Endometriosis symptoms often occur during menstruation, but many women experience them long after periods stop. Following menopause, the body still produces small amounts of hormones, and the endometriosis tissue still responds to them, thus causing pain. For many women, the symptoms of endometriosis may improve after menopause, but that does not mean it’s a cure. Depending on the case, it might be necessary to remove endometriosis implants or adhesions even after menopause. 

Myth #12: Hormonal Therapy Cures Endometriosis

Doctors have been treating endometriosis for years using hormonal therapy drugs. However, these medications do not have long-term effects on the disease itself. Hormones can help relieve the symptoms temporarily and even shrink the growths, but they do not cure endometriosis.

Myth #13: Endometriosis is Cancer

Endometriosis growths are not cancerous. To date, there is little evidence that shows endometriosis directly causes cancer. However, some types of cancers are more common in women who have endometriosis. Endometrial cancer is also known as uterine cancer. Many studies have examined the relationship between the two, and one showed that merely 0.7 percent of patients with endometriosis had endometrial cancer at the 10-year follow-up. Therefore, endometriosis does not equal cancer, but it may increase the risk of cancer.

Myth #14: Tubal Endometriosis Always Causes Infertility

Tubal endometriosis is not very common, and it does not always cause infertility. Does endometriosis cause infertility? It can be in many cases, but the mechanisms of infertility in endometriosis remain multifactorial. Can you get pregnant with endometriosis? It is possible, and many women do – especially with proper treatment early on.

Myth #15: Endometriosis Symptoms Are the Results of Emotional Distress (It Is All in Your Head)

Yes. People have heard many times that emotional distress could be the cause of their endometriosis and pain. This statement is false. The fact is, endometriosis is a highly complex disorder with many underpinnings. Those with endometriosis often experience emotional distress as an impact of the symptoms such as pain and infertility. But emotional distress it’s not the cause of endometriosis symptoms.

Endometriosis quick facts:

1- There is no blood test available for the diagnosis of endometriosis.

Mehedintu C, J Med Life, 2014

2- The diagnosis of endometriosis starts by taking a good history from patients, and performing a detailed physical exam including pelvic exam. In some cases, a doctor might ask for MRI and Ultrasound to have a more thorough picture. But the ultimate diagnosis is only possible with laparoscopic /robotic surgery and taking a biopsy for histopathology. There is no blood test that can tell if you have endometriosis.

3- Studies show that those with endometriosis have an increased risk of developing depression and anxiety disorders.

Chen LC, et al, J Affect Disord, 2016

4- Pelvic pain due to endo occurs a day part of an inflammatory cycle which can affect the pelvic organs and functions such as sitting, sex, bowel movements and even urination. Pelvic floor physical therapy can help with restoring balance to the pelvic floor muscles.

Dr. Juan Michelle Martin,  Endometriosis Physical Therapist.

5- “The most common clinical signs of endometriosis are menstrual irregularities, chronic pelvic pain, dysmenorrhea (painful periods), dyspareunia (painful sex), and infertility.”

Lagana AS, et al, Int J Womens Health. 2017

We Want Your Input

Are there any endometriosis myths or misconceptions we did not list here? Let us know in the comments below!

3 years ago Endometriosis , Endometriosis Education

Pelvic Congestion Syndrome- another cause of chronic pelvic pain

When talking about endometriosis and chronic pelvic pain, it is important to remember that often endometriosis is not the only pelvic pain generator. Another possible contributor to chronic pelvic pain is pelvic congestion syndrome (PCS). PCS is like having varicose veins in the pelvis. Blood pulls in the veins and can cause symptoms such as heaviness, pain with penetration, noncyclical pain, positional lower back pain, pelvic and upper thigh pain, prolonged postcoital discomfort, symptoms that worsen throughout the day and are exacerbated by activity or prolonged standing, and non-specific lower abdominal and pelvic pain (Durham & Machan, 2013; Mistry & le Roux, 2017). LIANG and Brown (2021) report that:

“Typical pelvic congestion syndrome pain is:

– Heaviness and dull aching in nature

– Located deep in the pelvis and on the left

– Exacerbated by upright position (standing or sitting) and exercise (walking, running, weightlifting)

– Worse towards the end of the day

– Worse after sexual intercourse

– Worse when bladder is full

– Chronic and insidious onset

Atypical pelvic congestion syndrome pain is:

– Constant pain not related to time of day, upright posture or physical activities

– Pain worse premenstrually and during menstrual periods

– More on the right than the left

– Acute and sudden onset

– Sharp or colicky in nature”

While the gold standard for diagnosis is contrast venogram, this procedure is usually done as part of the treatment (embolization procedure) (LIANG & Brown, 2021). LIANG and Brown (2021) report that “all non-invasive imaging like ultrasound, CT and MRI can detect pelvic varicosities” but that the key is “to alert the imaging technicians and specialist to look out for pelvic varicosities and to report them” (LIANG & Brown, 2021). A CT scan can also help diagnose other syndromes such as Nutcracker Syndrome (left renal vein compression) and May-Thurner Syndrome (left iliac vein compression) (LIANG & Brown, 2021). If you’ve had surgeries before for endometriosis and wonder why it wasn’t seen during surgery, it is because surgery “is performed with the patient in supine or Trendelenburg position, and with the use of CO2 for abdominal distention” thus meaning that the “veins are often collapsed, and pelvic varicosities can be missed”- it would take the surgeon who suspects pelvic varicosities to put the patient in “reverse Trendelenburg position and easing off CO2 distention” that “might allow the dilated veins to fill” and possibly be seen (LIANG & Brown, 2021).

Unfortunately, PCS doesn’t just go away or improve with time, therefore, treatment is usually needed for those who are symptomatic (LIANG & Brown, 2021). Because there is pooling and back flow of blood in the veins, the treatment suggested is transcatheter embolization (LIANG & Brown, 2021).  Medication, hysterectomy, and other treatments have not proved as effective (LIANG & Brown, 2021). The transcatheter embolization “is performed with conscious sedation under local anaesthetic, as a day procedure” and “is one of the safest embolisation procedures” (LIANG & Brown, 2021). LIANG and Brown (2021) report that “some feel the relief of pelvic congestion syndrome symptoms soon after embolisation, while others might have to wait for the thrombophlebitis to settle before appreciating the result”- reporting that it is best to wait 4-6 weeks to better judge the effectiveness. Mistry & le Roux (2017) report that after looking at 20 studies that “the overall technical success rate was as high as 99%” and that “with a mean follow up of 15 months, 80% of the patients reported benefit from the procedure while 13% experienced little or no relief of the symptoms”.

PCS may be another piece in the puzzle of ongoing chronic pelvic pain.

References

Durham, J. D., & Machan, L. (2013, December). Pelvic congestion syndrome. In Seminars in interventional radiology (Vol. 30, No. 04, pp. 372-380). Thieme Medical Publishers. Retrieved from https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0033-1359731  

LIANG, D. E., & Brown, B. (2021). Pelvic congestion syndrome: Are we missing the diagnosis?. The Medical Republic. Retrieved from https://www.sydneyfibroidclinic.com.au/app/uploads/2021/06/PCS-Medical-Republic.pdf

Mistry, P. P., & le Roux, D. A. (2017). Pelvic congestion syndrome (PCS). Practice Perspectives for Venous Disorders, 46. Retrieved from http://www.vascularsociety.co.za/wp-content/uploads/2019/02/VASSA-venous-guidelines-Practice-perspectives-for-venous-disorders-2017.pdf#page=46

3 years ago Endometriosis , Endometriosis Education No comment

A Multidisciplinary Team for Endometriosis is Key to Positive Outcomes

Table of contents

• Why Your Endometriosis Treatment Plan Should be Multidisciplinary
• What is Endometriosis?
• What is a Multidisciplinary Team Approach in Medicine?
• Benefits of a Multidisciplinary Treatment (MDT) Team for Endometriosis
• Who comprises an Endometriosis Multidisciplinary Team?
  • Endometriosis Surgeon (Gynecologist):
  • Colorectal Surgeon (Bowel Surgeon):
  • Urologist (Genitourinary Tract Doctor):
  • Radiologist Experienced in Endometriosis:
  • Physical Therapist/Pelvic Floor Therapist:
  • Pain Management Doctor:
• Psychiatrist/Psychologist:
  • Nutritionist:
  • Pathologist :
• Building Your Multidisciplinary Team for Endometriosis

Why Your Endometriosis Treatment Plan Should be Multidisciplinary

Endometriosis (endo) is a chronic and progressive disorder characterized by the growth of endometriosis tissue outside the uterus. This disorder often affects various organs in the body and results in pain and other issues. In addition to the intense physical and often debilitating symptoms of the disease, it can also take a toll on mental and spiritual health. Therefore, a multidisciplinary team (MDT) approach to endometriosis pain, surgery, and disease management leads to the best outcomes for patients. Keep reading to learn how.

What is Endometriosis?

Pronounced (en-doe-me-tree-O-sis), endometriosis is a chronic inflammatory disorder in which a type of tissue that is similar to the endometrial tissue that normally grows inside the uterus, grows outside this organ. Sometimes, the endometriosis tissue appears on the outer side of the uterus. These lesions can also grow on the ovaries, fallopian tubes, bladder wall, and on the outside of other organs within the pelvic cavity and other regions of the body.

Endometriosis is often a very painful and debilitating disease. During menstruation, these endometriosis growths shed blood into the body which is not able to be released. This causes an increase in pressure throughout the pelvic and sometimes abdominal region. Endo often involves other organs such as the bowels, ovaries, fallopian tubes, vagina, and cervix. In rare cases, it may affect other organs, such as the bladder, lungs, diaphragm, or kidneys. If you would like to learn more information about endometriosis, read our article, “Endometriosis 101: Covering the Basics”.

What is a Multidisciplinary Team Approach in Medicine?

Multidisciplinary care is when multiple members of the healthcare team come together to collaborate to provide optimal care for a patient. When it comes to endometriosis treatment, it’s important to involve various disciplines across the healthcare spectrum to achieve the best possible outcomes for patients.

Benefits of a Multidisciplinary Treatment (MDT) Team for Endometriosis

Draw in endo experts across different care areas to enhance the patient’s prospects and outcomes. Physicians benefit from this approach as they are able to provide a better framework for decision-making on a collaborative level and implementation. These aspects are particularly important when dealing with complex endometriosis cases. When several endo experts work together in unison, the benefits include cross-discipline learning, research, and review.

There is a type of disease, called deep infiltrating endometriosis (DIE). Alarmingly, about 20 percent of endo patients have this type. With DIE, the lesions can penetrate 5 mm deep into the organs affected by the disorder. A multidisciplinary treatment plan is the best approach for better outcomes and improved quality of life for the patient. The resection of DIE lesions requires a surgeon with expertise in endometriosis and a multidisciplinary approach coordinated by the endo specialist.

In fact, in 2019, the Society for Women’s Health Research assembled a team of clinicians, researchers, and patients to deliberate on the barriers in the commonly accepted forms of endometriosis treatment and management. The team underscored the importance of comprehensive and interdisciplinary approaches to disease and pain management for proper treatment and diagnosis.

Who comprises an Endometriosis Multidisciplinary Team?

The following are some of the endometriosis experts that come together and help treat patients holistically:

Endometriosis Surgeon (Gynecologist): 

If you have endometriosis, a regular obstetrics-gynecological surgeon is not going to suffice. It’s important to have an endometriosis specialist, who is an OB surgeon with experience in the treatment of this pelvic disease. An endometriosis laparoscopy is often needed to diagnose and treat the disease. It’s important to choose a surgeon familiar with endo to ensure all lesions are removed. Learn more about endometriosis specialists and how to find a vetted physician in our article here.

Colorectal Surgeon (Bowel Surgeon): 

If the endometriosis affects the bowel, surgical excision may be necessary to remove the lesions. Surgical treatment, such as full-thickness disc excision or a bowel resection should only be performed by an experienced colorectal surgeon. This physician will participate in the care from the diagnostic workup to surgical treatment and follow-up care.

Urologist (Genitourinary Tract Doctor): 

A urologist treats disorders of the urethra, kidneys, urinary bladder, and adrenal glands. Having an experienced urologist as part of your multidisciplinary team can help aid in the treatment of ureter and bladder lesions as well as minimize kidney or bladder complications.

Radiologist Experienced in Endometriosis: 

Endometriosis may have several presentations, which can make diagnostic testing challenging. Because endometriosis lesions can present in other areas of the body away from the reproductive organs, it’s important that the radiologist on your team is familiar with the pelvic nerve anatomy and how to detect signs of neural endometriosis.

Physical Therapist/Pelvic Floor Therapist: 

Physical therapy can be very important in the treatment of endometriosis. While some patients may require physical therapy to help them adapt to pain and stay mobile, others may need highly specific pelvic floor therapy. A pelvic floor physical therapist can work with the patient to help reduce adhesions and scar tissue which can limit pelvic floor extensibility. These exercises are important to help reduce pain sometimes associated with intercourse or the insertion of a tampon.

Pain Management Doctor: 

Endometriosis pain is often the primary complaint and most debilitating symptom of this disease. In fact, it’s not uncommon for the pain associated with endo to become so intense that a person is no longer able to function in daily life. For this reason, a pain management doctor should be a part of the team to improve functioning and overall quality of life.

Psychiatrist/Psychologist: 

Anxiety and depression are two of the biggest mental health disorders that often accompany endometriosis. Furthermore, the pain and sometimes infertility that come with this disorder can further aggravate these negative emotions. Therefore, a holistic MDT for endometriosis will include a psychiatrist or psychologist, possibly one who specializes in pain management.

Nutritionist: 

Nutrition plays a key role in the processes and regulation of your digestive and immune systems. A proper endometriosis diet can help to reduce the chronic inflammation that keeps the endometriosis lesions growing and spreading. A nutritionist with experience in treating endo patients is key for successful outcomes. 

Pathologist: 

There are different stages and types of endometriosis. Endometriosis with architectural atypia is one type that may be a precursor of ovarian cancer. Therefore, it’s important that a pathologist carefully examines the lesions to discover if they could be indicative of endometriosis-associated ovarian cancer.

Building Your Multidisciplinary Team for Endometriosis

Who’s got your back? If you have or suspect you might have endometriosis, this is a very important question to ask yourself. iCareBetter is a digital platform that connects endo patients to vetted endometriosis experts across a variety of disciplines. If you have endo, we want to hear from you. Do you already have an MDT for endo? If so, who are the members of your personal team?

3 years ago Endometriosis , Endometriosis Education No comment

How Do I Know If I Have Endometriosis? Endometriosis Signs

Table of contents

• Learn Endometriosis Signs & Symptoms & What to Tell Your Doctor
• What Is Endometriosis?
• What Are Endometriosis Signs and Symptoms?
  • Dysmenorrhea (Painful Periods) : 
  • Menorrhagia (Heavy Menstrual Bleeding):
  • Dyspareunia (Pain During or After Intercourse):
  • Chronic Pelvic Pain:
  • Ovarian Cysts:
  • Infertility:
  • Bowel/Bladder Problems:
• When to Call Your Healthcare Provider

Learn Endometriosis Signs & Symptoms & What to Tell Your Doctor

Pelvic pain is common for most women during their period. However, for some – this time of the month comes with excruciating pain due to the medical condition – endometriosis (also known as endo for short). Believe it or not, endometriosis signs extend beyond just the debilitating pain, although, that’s the hallmark symptom of this inflammatory disorder.

If you think you might have endometriosis, it’s important to have a solid foundation of information before you see your doctor for a possible endo diagnosis. Keep reading to learn what endometriosis is and what are the most common signs and symptoms of this condition.

What Is Endometriosis?

Pronounced (en-doe-me-tree-O-sis), endometriosis is a chronic inflammatory disorder of the pelvis where tissue similar to that normally grows inside your uterus, grows elsewhere instead, usually on the outside of it. The endometriosis tissue can block fallopian tubes, cover your ovaries, and even line the organs of your pelvis. 

Endometriosis can cause intense pain and fatigue, which makes it a disabling inflammatory condition for many women. Pain from endometriosis can be so intense that sometimes even medication cannot touch it. Other organs commonly involved include the fallopian tubes, bowels, cervix, ovaries, vagina, and pelvic tissue. Rarely, endo may also affect distant organs. Learn more about the disorder in our previous article, “Endometriosis 101: Covering the Basics”.

What Are Endometriosis Signs and Symptoms?

Sadly, endometriosis is an inflammatory disorder that often goes undiagnosed for years because the hallmark symptoms are things that some women take for granted as “normal”: heavy bleeding and pain during periods. If you think you might have endometriosis, it’s important that you know what to look for and when you should notify a doctor. The following are seven common signs of endometriosis:

Dysmenorrhea (Painful Periods): 

Intense pelvic or abdominal pain is one of the most common symptoms of endometriosis. Endometriosis pain is often described as a sharp or stabbing sensation. During menstruation, women with endo may experience very painful periods because the endometrial tissue swells and bleeds every month, just like the uterine lining would. However, because this process is occurring outside the uterus, blood is not easily shed, and this pressure can cause extreme cramping that is much more intense than typical period cramps. Period pain should not disrupt your daily life, so if it does, you need to let your doctor know or find a qualified endo specialist.

Menorrhagia (Heavy Menstrual Bleeding): 

While many women bleed heavily during their period, endometriosis can cause significant blood loss. How do you know if your amount of bleeding is excessive? Watch for these signs:

1. Passing large clots
2. Period goes on longer than a week
3. Bleeding through a pad or tampon in an hour
4. Too fatigued to carry out daily activities

If you have these symptoms, you may have menorrhagia and should contact a gynecologist. Menorrhagia is sometimes caused by endometriosis, and it can cause anemia and severe fatigue.

Dyspareunia (Pain During or After Intercourse): 

When endometriosis is the cause of painful intercourse, the woman may not experience the pain upon entry, only upon deep penetration. There can be physical and psychological causes of this condition, and endometriosis may be the culprit, as tissue builds up on the other side of the lower uterus or vagina – and sexual intercourse can stretch the tissue. You should talk to an experienced physician if you have pain during or after intercourse.

Chronic Pelvic Pain: 

While the inflammatory condition usually involves pain during menstruation, endometriosis pain can occur at any time of the month. Endometriosis causes an increase in pressure due to the excessive tissue in the pelvic cavity. This can cause a chronic pain condition that might be felt exclusively in the pelvis or manifest as abdominal or back pain. 

Ovarian Cysts: 

There is a type of endometriosis that causes endometriomas (also known as chocolate cysts) to grow on your ovaries. These cysts are non-cancerous but may become large and painful. Also, women who have these may also have other endometrial growths in the abdominal or pelvic areas. 

Infertility: 

Up to about half of women who have problems with fertility also have endometriosis. Furthermore, up to 50 percent of women who have endometriosis are unable to get or stay pregnant. The relationship between these conditions isn’t always clear as many factors can impact fertility. However, in the event that the endometriosis tissue blocks the reproductive organs, there is a clear connection. Treating the condition can increase your odds of having a baby. If these fertility issues are affecting you, contact an endometriosis specialist. 

Bowel/Bladder Problems: 

Bathroom visits may be problematic if you have endometriosis lesions growing near your bladder or bowels. And if you are experiencing difficulty with urination or bowel movements or bleeding in the bowel – these may be signs of endometriosis. Also, if you have painful urination, blood in your stool, nausea, or hyper urgency to urinate – you should tell your medical provider immediately. 

When to Call Your Healthcare Provider

Share with your healthcare provider any of the following endometriosis signs and symptoms:

• Pain. Pain is the most common sign of endometriosis, and it can be present:
  • During or after sex
  • With bowel movements
  • When urinating during your period
  • As chronic abdominal, lower back, or intestinal pain
  • Similar to menstrual cramps that get worse gradually
• Bleeding or spotting between periods
• Difficulty getting pregnant or infertility
• Digestive issues or stomach problems such as diarrhea, constipation, bloating, or nausea—especially during your periods

3 years ago Endometriosis , Endometriosis Education

Genes associated with endometriosis

It’s an exciting title: “Genetic cause of endometriosis discovered, pointing to new drug therapy” (Haridy, 2021). But it is misleading. When you look further, it reveals it is referencing a study (Tapmeier et al., 2020) that identified “a novel genetic variant that is associated with severe cases of endometriosis” (Haridy, 2021). The article further states that “NPSR1 mutations have never before been linked with endometriosis” but “they have, however, been associated with inflammatory diseases including arthritis, inflammatory bowel disease and asthma” (Haridy, 2021). This gene was noted in endometriosis patients in a 2016 study that identified several genes associated with endometriosis (Houshdaran et al., 2016). The article also notes “not every woman with endometriosis was found to have this particular NPSR1 variant, affirming the heterogenous nature of the condition” and that the gene has a “potential role in endometriosis” that “points to the development of anti-inflammatory therapeutics targeting this mechanism” (Haridy, 2021).

We know there is a genetic component to endometriosis; however, a single gene has not been identified as the cause. This study notes that this particular gene is associated with stage III/IV endometriosis and with other inflammatory conditions. The research is identifying new potential drug targets to help with symptoms.

Genetics account for about 50% of the risk for endometriosis with the other 50% “likely owing to environmental factors” (Montgomery et al., 2020). “As with other complex diseases, genetic variants in the DNA sequence increasing endometriosis risk all have small effects, unlike most single-gene disorders” and “it is the combinations of these variants adding together that contribute to higher risks for individual women” (Montgomery et al., 2020). The science of epigenetics should also be considered.

Epigenetics is “the study of biological mechanisms that will switch genes on and off” (What Is Epigenetics, 2019). Epigenetics can be influenced by almost everything: “what you eat, where you live, who you interact with, when you sleep, how you exercise, even aging – all of these can eventually cause chemical modifications around the genes that will turn those genes on or off over time” (What Is Epigenetics, 2019). Epigenetics involved with endometriosis might include “DNA methylation and histone modification, and, other non-classic mechanisms: miRNAs and lncRNA” (Chen et al., 2020). “Increased estrogen activity and progesterone resistance are the main hormonal substrate of this disease and are associated with inflammatory response and debilitating symptoms, including pain and infertility….The regulation of receptor expression by epigenetics maybe a critical factor for endometriosis” (Chen et al., 2020).

In short, endometriosis is pretty complicated and we still have much to learn.

References

Chen, H., Malentacchi, F., Fambrini, M., Harrath, A. H., Huang, H., & Petraglia, F. (2020). Epigenetics of estrogen and progesterone receptors in endometriosis. Reproductive Sciences, 1-8. Retrieved from https://link.springer.com/article/10.1007/s43032-020-00226-2

Haridy, R. (2021). Genetic cause of endometriosis discovered, pointing to new drug therapy. Retrieved from https://newatlas.com/science/genetic-cause-endometriosis-inflammation-new-drug-therapy/

Houshdaran, S., Nezhat, C. R., Vo, K. C., Zelenko, Z., Irwin, J. C., & Giudice, L. C. (2016). Aberrant endometrial DNA methylome and associated gene expression in women with endometriosis. Biology of reproduction, 95(5), 93-1. Retrieved from https://doi.org/10.1095/biolreprod.116.140434

Montgomery, G. W., Mortlock, S., & Giudice, L. C. (2020). Should genetics now be considered the pre-eminent etiologic factor in endometriosis?. Journal of minimally invasive gynecology, 27(2), 280-286. Retrieved from https://doi.org/10.1016/j.jmig.2019.10.020

Tapmeier, T. T., Rahmioglu, N., Lin, J., Obendorf, M., de Leo, B., Montgomery, G., … & Zondervan, K. T. (2020). Neuropeptide S Receptor 1 is a Novel Non-Hormonal Treatment Target in Endometriosis. Reproductive Sciences, 27(SUPPL 1), 130A-130A. Retrieved from https://stm.sciencemag.org/content/13/608/eabd6469

What Is Epigenetics. (2019). A Super Brief and Basic Explanation of Epigenetics for Total Beginners. Retrieved from https://www.whatisepigenetics.com/what-is-epigenetics/

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