Endometriosis: Delayed Diagnosis Impacts Disease Management and Patient Well-Being

By Tamer Seckin, MD

Endometriosis is a common yet poorly understood illness that affects women of reproductive age and is often under and misdiagnosed. It is believed that endometrial cells that normally line the uterus grow outside the uterus, attaching to the ovaries, fallopian tubes, outer surfaces of the uterus or intestines, and on the lining of the pelvic cavity.

Normally, these cells shed during monthly menstruation. With endometriosis, the process of menstruation and ovulation stimulates hormones, causing them to become inflamed, bleed and to cause pain. The disease can lead to scarring known as adhesions, which can be extremely difficult to detect by the naked eye and can become a leading cause of infertility.

Endometriosis impacts the internal peritoneal cavity, a very thin membrane, which is the collection place for menstrual debris or inter-operative artifacts and the area that involves multi-organ association with the vagina, reproductive organs, uterus, ovaries and tubes, ureters and bowels. This is the area that is most neglected during surgical procedure as the peritoneum is such a very thin membrane and can be transilluminated very easily. If the disease is not treated at the peritoneal cavity, then it cannot be treated fully.

No two women’s endometriosis symptoms are the same. Symptoms vary from patient to patient and from mild symptoms to very severe. Many women may suffer for years in pain without receiving a correct diagnosis or proper treatment.

For example, women can have sub-optimal care or incorrect surgeries that compound the problem further causing the pain to increase and their quality of life to be impacted negatively. Patients who have severe symptoms may often have to rely on narcotic pain medications to mask the discomfort of their endometriosis because living with the disease is just too debilitating and feel that others just don’t understand their pain.

According to epidemiology research published the Clinical Obstetrics and Gynecology published in 2010, 1 in 10 women suffer from endometriosis and that the disease is the third leading cause of gynecologic hospitalizations in the United States. Not only is endometriosis a physical disease but it takes a tool on mental well-being causing anxiety, stress and suicidal thoughts many times due to frequent and debilitating symptoms that can affect relationships, sex, hobbies and every day activities including work and caring for children.

Further, according to the Mayo Clinic “ovarian cancer does occur at higher than expected rates in women with endometriosis…[and] some studies suggest that endometriosis increases that risk, but it's still relatively low. Although rare, another type of cancer – endometriosis-associated adenocarcinoma – can develop later in life in women who have had endometriosis."

Symptoms of Endometriosis

The most classic symptom of endometriosis is painful menstrual periods known as dysmenorrhea during and around menstruation. Endometriosis periods are unique in that they last for more than two days and are usually accompanied by disabling “killer” cramps, achiness and constant discomfort.

Most women can trace these symptoms back to their adolescent years. Gastrointestinal symptoms are usually apparent as well, such as bloating, gas and cramps with or without diarrhea and constipation — which is more pronounced during menstruation. Painful sex and painful bowel movements are other important symptoms associated with deep endometrial tissue.

Another frequent symptom of endometriosis is infertility, which can vary from difficulty to conceive to difficulty carrying a pregnancy to term. Scar tissue and adhesions can block the fallopian tubes and ovaries can stick to a patient’s pelvic wall or attach to other organs, which can impact conceiving naturally.  According to RESOLVE — the National Infertility Association — reports show that “40% of women with endometriosis will struggle with infertility” and “in about 30% of women, there are no symptoms except infertility.”  

Because endometriosis can also be found in the recto-vaginal area of a patient, sex can become painful and difficult.  In addition, women can also experience intense pain and bloating when they ovulate, which also impacts conception and makes the act of trying uncomfortable.

The severity of pain varies from patient to patient and is not associated with the number or extent of lesions. Some women have large patches of endometriosis but minimal pain, while others have small lesions and severe pain.(1) Symptoms of endometriosis can be chronic or recurring. As few as 20-25% of women with the condition do not have any symptoms.(2)

Because of gastrointestinal and other symptoms, endometriosis is usually not diagnosed until a woman is past 30-years-old – in many women it is diagnosed in their 30s and 40s.(3) In the US, it takes an average 11 years for a woman to be correctly diagnosed with endometriosis.

Endometriosis is most commonly mistaken for pelvic inflammatory disease and/or irritable bowel syndrome. The disease may also masquerade other disorders, such as ovarian cysts, colon cancer, diverticulitis, appendicitis, ectopic pregnancy, and fibroids, among others. By the time their endometriosis is correctly diagnosed, it is usually so advanced that it may require removing massive areas of adhesions in the fallopian tubes and reproductive functions.

In addition to having symptoms that mimic other disorders, another primary reason why so many women suffer with pain for years without being properly diagnosed is because there is a taboo factor involved with respect to periods and associated symptoms. In our society and other societies, women are told the dysmenorrhea is “normal,” and will get better when they get older and have kids. It is often not easy to talk about symptoms. Some, though not all, women simply accept the pain, live with it and hide it. Based on my 30 year career this is what I have seen.

Complex immunobiological factors both at the cellular and antibody levels are involved. Some women may be genetically predisposed to get the disorder. The female reproductive hormones estrogen and progesterone may also play a role in its development as in some cases an immune system dysfunction or an exposure to chemicals may contribute to the disorder’s development.(2)

Very few research dollars have been allocated to this important area of women’s health and that’s why I am so committed to this disease area as the primary focus of my practice to help women who battle the debilitating symptoms and who often come to me after they have tried numerous medical approaches and have endured the pain for far too long.

Origin of Endometriosis

Endometrium are the richest stem cells in a woman’s body. As a result of the disease, these important stems cells are impacted.

For women with endometriosis, their periods are not normal. The genetic and cellular period debris they experience monthly goes back into the abdominal cavity, and because of their inflammation, the debris sticks and causes adhesions. These women’s immune systems; therefore, cannot clear this debris fast enough.

The stem cells in the endometrium that contain debris that come to the peritoneum with retrograde bleeding causes the inflammatory reaction. During this inflammatory reaction, the immune system is full and fails to clean this foreign migrated cell that doesn’t belong there, and inflammation continues. Migrated cells then implant further to cause dense scarring, neuropathy, organ dysfunction, inflammation and pain.

Based on the latest theories, the source of this debris is from the endomyometrial junction, where the stem cells are generated, and becomes the true origin of the disease.

Impact of Endometriosis

The World Endometriosis Research Foundation’s EndoCost study, is the first ever prospective study on the actual cost of endometriosis and included a questionnaire assessing the impact of the disease on women’s lives including questions on health care costs, work loss and quality of life.(4) The results showed that “loss of productivity, due to pain, is twice that of direct health care costs.” (5)

Overall, the dysmenorrhea and associated symptoms of the disorder can significantly impact a woman’s quality of life. A woman’s physical, mental and social well-being may all be affected. A subset of patients that I treat may even develop what I call a “Type E” personality.

They fight through the pain and are a unique group of women who do as much as they are physically able, to continue with their careers and manage their families while their quality of life is negatively impacted. They try everything – birth control pills, painkillers, exercise, acupuncture, nutritional supplements – for years without relief. For this group of women, their misdiagnoses can cause mistrust and resentment of the entire medical establishment until they find relief.

The women I see in my practice, from all socioeconomic backgrounds, often have this experience.

Diagnosing and Treating Endometriosis

Despite advances in diagnostic technology, a confirmation of endometriosis requires direct visualization by submitting further verification under the microscopic in a laboratory.

This is commonly achieved through a surgical procedure called laparoscopy, in which a surgeon inflates the abdomen with harmless gas, makes a small incision and uses a small instrument called a laparoscope to view the abdomen, pelvic cavity and reproductive organs. Laparoscopy is typically performed on an outpatient basis under general anesthesia.

Endometriosis is a highly treatable disease. However, the disease is not the same for all patients and therefore the approach to disease management varies also. Treatment is highly individualized depending on a woman’s age, symptoms and whether or not she wants to have children.

For some patients, medication may work, but it only suppresses the symptoms and does not get rid of the disease. For others, especially those with more advanced disease symptoms or who have suffered failed therapies, which is the majority of patients I treat, surgery is the best option.

Medical treatment consists of pain medications, such as nonsteroidal anti-inflammatory drugs, or NSAIDS, and hormonal treatments, including estrogen and progesterone found in birth control pills, and Gonadotropin-releasing hormone (GnRH) agonists. Hormonal treatments prevent ovulation, which can help slow the growth of the endometrial lesions, keep new adhesions from forming, and improve symptoms.(3)

However, medical treatments do not eliminate endometriosis tissue that is already present.(2) For the vast majority of these patients, medical approaches have failed and their endometriosis is now considered advanced. Referral to a surgeon who specializes in laparoscopic excision is the most important factor in making sure no disease is left behind.

Most patients in my practice have advanced disease usually due to sub-optimal prior surgeries. Tissue may have been left behind from previous treatments and procedures and is now causing pain. Patients in my practice get the most relief when I perform laparoscopic excision, during which all the tissue is removed.

A surgical procedure called laparoscopic excision is the gold-standard of endometriosis treatment. During laparoscopy, a surgeon will excise, or remove endometriosis lesions with lasers or surgical instruments, essentially destroying the lesions. Because many adhesions can’t easily be seen or detected, using special surgical techniques, surgeons can make them visible and remove them appropriately. Removal of deep lesions has been shown to be associated with long-term pain relief.(3)

With good treatment, women can get pregnant, and 90% of the time, their pain is reduced. Roughly 50% of patients experience very little pain following surgery. Some adhesions may return, and 1 out of 5 women will go back for surgery later on.

In some cases, particularly if the endometriosis is severe, we may remove the endometriosis patches by performing a laparotomy, a major abdominal surgical procedure. Major surgery is considered a last resort for endometriosis treatment and endometriosis is not cured by removing all female reproductive organs.

Moreover, surgery by laser and/or cauterization is not recommended because the process of cauterizing the lesions can contribute to the pain and cause more scarring, making it even more difficult to detect the disease. Laser treatment can accelerate the pathology of endometriosis.

Early detection, early diagnosis and early intervention are the best methods for endometriosis management. These are also the most important ways to get the best treatment results by minimizing the endometriosis will be minimized. Early intervention is the key to effectively resolving this disease.

Infertility and Endometriosis

Endometriosis is the number one reason for fertility problems. It is estimated that more than half of women with infertility have endometriosis.(2) Women with endometriosis are 50 – 80% more likely to suffer from infertility. They are also more likely to suffer miscarriages, and they have an increased risk for premature birth, malpresentation, caesarian section, placenta percrata and placenta previa.

However, many women with mild to moderate endometriosis can, and do, go on to conceive a child naturally without fertility treatment. Studies show that laparoscopy to remove the growths may be used as a way to improve fertility in women with mild or minimal endometriosis.(3) If a woman still has difficulty conceiving after laparoscopic treatment, assisted reproductive technologies, such as in vitro fertilization (IVF), may be used to improve fertility.(3)

Excisional surgery to remove the affected tissues and ensure that no disease is left behind increases the likelihood of conceiving and carrying a pregnancy to full term in all stages, particularly in the advanced stage of endometriosis. Multiple factors, such as a woman’s age, duration of infertility, male factor, pelvic pain, and stages of endometriosis, are all taken into account when a woman with endometriosis is considering options for treating infertility and women should consult with an IVF specialist prior to any endometriosis surgery.

Current and Future Research

Why endometriosis happens is not well understood, and although historically few women’s health research initiatives have focused on endometriosis, all that may be changing. New research initiatives are underway to investigate the causes of the disease as well as potential treatment options.

One research initiative currently underway, funded by the Endometriosis Foundation of America (EFA) and in collaboration with North Shore-LIJ Feinstein Institute for Medical Research, is a study called Research Out-Smarts Endometriosis (ROSE) to investigate the causes of endometriosis and bring improved diagnostics and treatments for women with endometriosis.

Using several approaches, including DNA sampling and a patient registry, will help to gain insights about the genetic basis of the disorder, the pathogenesis, or what happens at the cellular level to cause endometriosis, and epidemiology of the disorder to better understand what populations of patients it effects and possible risk factors for preventing this debilitating, common gynecological problem.

Taking Action against Endometriosis

Women with endometriosis should not accept the painful symptoms as just cramps they must cope with. This disorder is real and the debilitating symptoms are proof. For women living with endometriosis or who suspect they may have it and are scheduled to have surgical treatment, may be eligible to participate in the ROSE study.

If you would like to learn more about how you may play a part in improving the understanding of endometriosis, please contact a research nurse at +1 (516) 562-ENDO (3636), or send an email to [email protected], or visit ResearchOutSmartsEndo.org.

The ROSE study researchers are exploring what causes endometriosis and if a better treatment can be developed. Your role in this study can help.  Together, let’s take action against endometriosis to help women suffering symptoms that cannot be ignored.

About Tamer Seckin

Tamer Seckin, MD, is a Board Certified gynecologist and laparoscopic surgeon in private practice in New York City with more than 30 years of experience. He practices at North Shore LIJ/Lenox Hill Hospital.

An internationally renowned specialist in minimally invasive advanced (laparoscopic) surgery, Dr. Seckin is the founder and medical director of the Endometriosis Foundation of America (EFA).

He members numerous professional organizations and has been acknowledged by his peers as an outstanding practicing doctor in New York in the May 2012 issue of New York Times Magazine and is a recipient of the Best Doctor Award in 2011-2012 being elected by his peers for inclusion in Best Doctors in America being among many of his professional accomplishments.

His dedication to endometriosis through ongoing research is strong and his commitment to his patients is unwavering. Dr. Seckin is also a recipient of the prestigious 2012 Ellis Island Medal of Honor, which pays homage to the immigrant experience and highlights the contribution made to America by those who have immigrated.

1. National Institutes of Health, NICHD (2013) www.nichd.nih.gov
2. Bulletti C, Coccia ME, Battistoni S, et al. Endometriosis and Infertility. J Assist Reprod Genet (2010) 27:441-447 DOI 10.1007/s10815-010-9436-1
3. The American College of Obstetricians and Gynecologists, Frequently Asked Questions, Gynecologic Problems
4. Simoens S, et al. Endometriosis cost assessment (the EndoCost study): a cost-of-illness study protocol. Gynecol Obstet Invest 2011;71(3):170-6
5. Simoens S, et al. The burden of endometriosis: costs and quality of life of women with endometriosis and treated in referral centres. Hum Reprod 2012 [epub ahead of publication]

Further Reading

• All Endometriosis Content
• Endometriosis – What is Endometriosis?
• Endometriosis Symptoms
• Endometriosis Diagnosis
• Endometriosis Treatments

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Disclaimer: This article has not been subjected to peer review and is presented as the personal views of a qualified expert in the subject in accordance with the general terms and condition of use of the News-Medical.Net website.