A Challenging Conundrum: abdominal or pelvic pain? Infertility? Painful sex? “IBS” and bowel-related symptoms? Bladder pain? Lower back or leg pain? Bloating? Crippling fatigue? Debilitating periods? Endometriosis could be at the root of these symptoms – and many others. Despite being among the most common of diseases, persistent myths, misinformation and deficient health literacy about the disease continue to enshroud endometriosis – even by the most well-intentioned sources – often resulting in poor information systems and continued lack of effective care.
To begin, endometriosis is much more than simple, so-called “killer cramps” as it is often mistakenly labeled, with symptoms routinely occurring apart from menses at any time of the cycle and, in many instances, becoming chronic in nature. It is important to understand that minor cramping during menstruation IS NORMAL, particularly in adolescents. Inflammatory hormones like prostaglandins (along with others) are linked to menstrual discomfort; this mild pain is not typically cause for alarm and may be remedied through a variety of measures. Usually, such pain is temporary and subsides after menses. This is called “dysmenorrhea.” Dysmenorrhea is NOT the same as endometriosis.
Moreover, endometriosis is NOT just ‘painful periods’ – nor is it simply ‘bits of rogue endometrium implanted as a result of backflow menstruation’ as many articles and organizations incorrectly describe. Normal endometrium (the lining of the womb which breaks down and is shed during menstruation) is profoundly, histologically different from the functional glands and stroma that comprise endometriosis. The tissue does somewhat resemble – but is not the same as – ‘normal’ endometrium.
Characterized as the presence of endometrial-like tissue found in extrauterine sites, the aberrant processes involved in endometriosis give rise to pain, inflammation, development of endometriomas (“chocolate cysts”), fibrosis, formation of adhesions (fibrous bands of dense tissue), organ dysfunction and much more. Alterations in certain biological processes of the endocrine and immune systems have been observed with the disease, and endometriosis is embodied by a complexity of multiple immunologic abnormalities, endocrine alterations and unusual expression of adhesion molecules.
The disease is not merely a simplistic condition whereby normal uterine lining implants itself waywardly throughout the body like daises in a field with each period – yet unfortunately, this outdated, widely-touted notion continues to keep endometriosis mired needlessly in delayed diagnoses, hysterectomy, poor surgical treatment, ineffective medical suppressives and worst of all, a lack of hope. Fortunately – endometriosis is not a hopeless disease and quality treatments do exist.
Who gets endometriosis: it is likely that a multitude of factors including genetics/epigenetic predispositions play strong roles in determining which and whether an individual will develop the disease. Though endometriosis largely affects females of reproductive age, the disease can and does impact menstruators and non-menstruators alike – including rare cis males, post-hysterectomy/menopause and before a girl’s first period. It is also imperative to look beyond gendered health and include LGBT patients, who are often struggling to access endometriosis diagnosis and treatment in a traditionally female-identified space. The oft-overlooked, unique considerations in healthcare settings that fail to be inclusive can lead to additional stressors, further isolation and impaired treatments. The disease has also been documented in the human fetus, and it is quite common in teens – though vastly under-diagnosed due to stigma and lack of awareness. Without a doubt: endometriosis has a significant social and psychological impact on the diverse population affected – across several domains of their lives. The time for the disease to receive recognition as a major public health issue is long past due.
A Culture of Menstrual Misinformation – When Lack of Knowledge is ‘The Curse': endometriosis remains steeped in menstrual taboos and is epitomized in large part by extremely poor efficacy and safety profiles of commonly proffered therapies. Stigma, widespread lack of health literacy, normalization and dismissal of symptoms, and a prevailing ethos of menstrual shaming/secrecy all contribute in part to the extreme delayed diagnoses and poor management of individuals with the disease. Read more here about why endometriosis awareness and our voices matter, and stay tuned for notes and updates from the Public Health Panel we convened recently at the Center for Health & Human Rights at Suffolk University School of Law on this topic.
What it feels like: common, oft-debilitating symptoms of, and potential associations with, endometriosis include (but are not limited to):
* Crippling period pain in menstruating females
* Abdominopelvic pain at any time, often intractable
* Bowel or urinary disorders/pain/dysfunction
* Painful intercourse/penetration/sexual activity
* Infertility/pregnancy loss/possible link to preterm births
* Immune-related and other comorbid disorders
* Allergies, migraines or fatigue that may tend to worsen around menses
* Coughing up blood in cases of pleural/thoracic endometriosis
*Leg and lower back pain, particularly in cases of sciatic endometriosis
*The disease may also resemble some symptoms of, and has been linked to, adenomyosis
*Data also links chronic fatigue with menstrual abnormalities, endometriosis, pelvic pain, hysterectomy, and early/surgical menopause
*Comorbid pain syndromes, mood conditions and asthma are also common in individuals with endometriosis
Not all persons with endometriosis will have all symptoms, and no two cases are identical.
Where it is: the disease may present at an early age and typically develops on the pelvic structures including the rectovaginal cul de sac, peritoneum, bladder, bowels, intestines, ovaries and fallopian tubes. As recognition grows, it is also increasingly being diagnosed in areas outside the reproductive organs i.e. diaphragm and lungs, where it can induce a dangerous condition called Catamenial Pneumothorax. “Pelvic endometriosis” is traditionally defined as lesions of the tubes, ovaries and local peritoneum; “extrapelvic disease” is wide-ranging and refers to that found elsewhere – including the gastrointestinal tract, urinary tract, pulmonary system, extremities, skin, central nervous system and beyond [Jubanyik, Comite. Extrapelvic Endometriosis. Obstetrics & Gynecology Clinics of North America, Volume 24, Issue 2, Pages 411-440 (1997)]. Rarely, endometriosis may be diagnosed even in areas as far removed from the abdominopelvic region as the brain and soleus/gastrocnemius muscles – though again, this is highly uncommon – indeed, in performing over 8,000 procedures across a span of 20+ years, we have never encountered brain endometriosis in our practice. There are also highly uncommon, sparse reports in the literature of vena cava invasion in a post-menopausal woman; on the adrenal gland; periclitoral endometriosis; the iliac vein; intrahepactic endometriosis; nasal endometriosis; and other very rare manifestations of the disease. Symptoms often start early in life, but may be ignored by caregivers, healthcare consumers and practitioners alike. An estimated 70% of teens with pelvic pain go on to be later diagnosed with endometriosis.
The pain and symptoms may worsen or even become chronic over time as the lesions become deeper and more fibrotic. As a result, infertility, bladder or bowel dysfunction, painful sex and many other physical and quality of life issues can occur. Current research indicates there is a preponderance of inflammatory milieu and hyperinnervation involved in the pathophysiology of pain in those with the disease, and that patients with chronic pelvic pain routinely demonstrate increased pain sensitivity even in non-pelvic sites. Early data implies that where the lesion is located may correspond to infiltration and/or adhesion formation, though further research needs to be done in this area.
Endometriosis & Malignancy: in recent years, a potential cancer risk in association with the disease has emerged, but it is critical to understand that endometriosis is not a malignancy. Increased risk factors include early-stage/low-grade disease and a specific histology i.e. endometrioid or clear cell carcinoma [Kim, Kim, Chung, Song. Risk and prognosis of ovarian cancer in women with endometriosis: a meta-analysis. British Journal of Cancer 110(7):1878 (2014)], but much is still unknown about the relationship. To that end, robust research is underway to evaluate the clinicopathologic characteristics of endometriosis-associated ovarian cancer (EAOC) in comparison with non-EAOC as well as other potential links. It is also true the potential exists for endometriosis to malignantly transform, but this again is a poorly understood and uncommon phenomenon. Though some mistakenly refer to the disease as a “benign cancer,” it is not: all cancers by definition are malignant. It is inaccurate to refer to endometriosis as ‘cancer’ and doing so contributes to the spread of misinformation that continues to surround the disease. “Benign” does not imply the disease has any less capacity to derail lives, however. Nonetheless, much research remains to be done to better illustrate and understand the tenuous link between endometriosis, ovarian cancer and other potential malignancies.
Endometriosis & Other Disorders: there has been extensive data over the past couple decades indicating endometriosis may be linked to select co-morbid conditions in some individuals with the disease as well, including a low/modest association between certain pigmentary traits and melanoma; pain syndromes (interstitial cystitis, irritable bowel syndrome/inflammatory bowel disease, chronic headaches, chronic low back pain, vulvodynia, fibromyalgia, temporomandibular joint disease, chronic fatigue syndrome, etc.) as well as mood conditions (defined as depression and anxiety) and asthma; select infections and endocrine disorders; headaches and migraines; thyroid disease and others. Similarities in the clinical and epidemiological features of the associated disorders may be at the root of their co-morbidity, and further investigation is needed.
Predictability: generally, no particular demographic, personality trait or ethnic predilection exist in association with endometriosis and there is no preventive measure, though some provocative phenotype studies have begun investigating certain physical characteristics (are women with endometriosis more attractive??) as part of the disease profile. Still, widespread lack of awareness and accurate disease understanding on the part of society – even by those affected – contributes in part to the average diagnostic delay of nearly a decade (6.7 years) across multiple physician consults—even today.
The Cost of an Enigmatic Public Health Concern: carrying a fiscal tag of nearly $119 billion annually, endometriosis affects approximately 176 million individuals worldwide (7.5 million in just the U.S. and 775,000 in Canada alone) – yes, even the rare male. The illness accounts for a significant loss of productivity – nearly 11 hours per woman per week; 38% more than for those with similar symptoms who do not have the disease. Endometriosis remains a leading cause of gynecologic hospitalization and hysterectomy (many performed needlessly) and can distort every aspect of the impacted person’s life. Yet despite it’s socioeconomic and global health impact, it remains a poorly understood, underdiagnosed, undertreated disease, sorely lacking in awareness and validation. This continues to lead to delayed diagnoses, poor treatments and widespread lack of support.
Diagnosis: currently, the only way to obtain a definitive diagnosis of endometriosis is still through surgery; typically Laparoscopy. Though symptoms and/or diagnostic testing (CT scans, MRIs, etc.) may give rise to “informed suspicion,” only surgery permits the requisite visual and more importantly, histological, diagnosis. Laparoscopy also facilitates treatment of the disease. Though a popular approach among some ob/gyn generalists, it is inappropriate – and impossible – to diagnose endometriosis medically. There have been over 50 biomarkers studied to date towards a non-invasive diagnosis, none with universal success. A more recent study indicated that concurrent measurements of CA125, syntaxin-5 and laminin-1 might be a useful, non-invasive test in the diagnosis and prediction of disease severity, but this has not been borne out in large, multicenter studies.
Staging may be done at the time of diagnosis. This is a classification system developed by the ASRM based on the location, extent of and depth of disease, presence and severity of adhesions, and presence and size of endometriomas. Based on the corresponding number of points, endometriosis is assigned into stages I-minimal, II-mild, III-moderate, or IV-severe. Stage does not correlate with severity of symptoms and a better system sorely is needed.
What causes endometriosis – and what doesn’t: often called a “disease of theories”, the definitive cause(s) of endometriosis remain under debate, though demonstrated association with a number of hereditary, environmental, epigenetic and even certain menstrual characteristics exist. Current research has implicated HOX genes, mesenchymal stem cells and certain immunologic factors in disease origin; nonetheless, no single theory explains endometriosis all those affected; more likely, a composite of several mechanisms is involved. The most popular theories which have emerged over time include:
Retrograde menstruation – ‘Sampson’s Theory’, which dates back to 1921, is perhaps the most popular – yet flawed – of theories. Initially, Dr. John Sampson assumed that endometriosis is the result of “seedlings” from the ovaries. Later, in 1927, he proposed the disease results from reflux menstruation, wherein endometrium is “showered backwards” onto the peritoneum and ovaries, taking hold and implanting. However – endometriosis lesions and endometrium are NOT the same histologically, and retrograde menstruation is a very common phenomenon among most menstruators. Essentially, Sampson’s Theory considers endometriosis as normal endometrial cells which behave abnormally because of abnormal peritoneal milieu; however, this is actually not supported or borne out in the current literature, though this notion has persisted for almost a century. Unfortunately, this popular theory continues to complicate effective management and understanding of the disease today. Despite persistent propagation of Sampson’s Theory, many studies have demonstrated that retrograde menstruation does not account for pathogenesis; the eutopic and ectopic endometrial stromal cells in those with endometriosis exhibit fundamental differences in invasive, adhesive, and proliferative behaviors from those who do not have the disease. Without question, there are various additional factors that contribute to disease pathophysiology and pathogenesis.
Immunologic dysfunction – a “broken” immune system may allow for the disease to take hold and play a small role in lesion development – but this does not sufficiently explain the disease process to begin with. Some have characterized endometriosis as an autoimmune disease, but there is no robust evidence to support this. It may, however, be linked to several autoimmune disorders and share an underlying pathophysiology. More research is needed to explore this topic.
Homeobox genes – dysfunction of HOX genes may results in abnormal differentiation and migration of cells during embryonic formation of the female reproductive tract, giving rise later to endometriosis. The presence of endometriosis in fetuses strongly suggests an embryologic origin.
Stem Cells – have been linked to disease even in absence of menstruation; this would also account for the rare cases of documented male endometriosis. Work continues to emerge from this area of important research.
Genetics – increased risk of endometriosis may exist in those with a mother or relative with the disease.
Environmental Toxicants – pollutants (including a speculative link to dioxins, for which there remains conflicting and even insufficient evidence) have been hypothesized to induce certain cell changes, which in turn facilitate abnormal immune response allowing for the disease to take hold.
In specific, very limited cases the cause may be anatomic and/or due to neonatal uterine bleeding, but this remains speculative. Still more recent data is exploring endometriosis from a systems biology perspective (Griffith et. al. 2014), while others maintain the disease results (at least in part) from hormonal aberrations i.e. certain deficiencies and inappropriate activation of receptor signaling and resistance, DNA Methylation, and/or aberrant MicroRNA expression.
Lymphatic spread/Halban’s Theory suggests vascular or lymphatic dissemination, but little confirmation has been reached in this particular area of research.
Yet, despite the myriad of theories, no single assumption accounts for all cases in all those affected. What do we believe here at the CEC? It is likely that we are born with endometriosis and a combined number of pathological factors subsequently trigger the disease later in life.
Nevertheless, endometriosis is certainly ‘not in your head’ – though a number of sources have indicated over the years that endometriosis is caused by “negative emotions” and various deep-seated psychological components. While there are various social, psychological and emotional aspects to any painful, chronic illness such as endometriosis, these are consequences of the disease – not the cause. Endometriosis has its origins in very real, very complex genetic and molecular underpinnings – not some abstract ‘rejection of one’s uterus’ or inability to get along with one’s parents, among other erroneous claims. Various psychoimmune interactions are present in those with endometriosis i.e. pronounced immunological shifts, manifested by imbalanced production of anti-inflammatory cytokines among other biologic responses – but these are part of the network of adaptive reactions associated with and perhaps because of it – not the origin of the disease. The highly offensive contention that endometriosis is a psychological ailment due to one’s internal failings or otherwise rooted in emotions leads only to further delayed diagnosis and ineffective treatment of the disease, and should be denounced wherever such claims appear.
Poor treatments lead to poor outcomes: unfortunately, many who struggle are often misdiagnosed and/or directed to “manage” the pain for years through repeat, superficial/incomplete surgeries in which all disease is not removed, or through use of painkillers, and/or via medical therapies like oral contraceptives and hormonal injections – but these only mask symptoms and do not treat disease long-term in any way. Patients are also sometimes misled to believe that the only long-term solution is removal of reproductive organs (hysterectomy/salpingo-oophorectomy) – a dangerous myth. Though hysterectomy has its place in endometriosis treatment for select cases, the disease is not “cured” by removal of the uterus, ovaries and/or tubes and cervix. This ongoing misconception is responsible for countless, needless hysterectomies performed each year – indeed, nearly half of the 600,000 hysterectomies performed in the United States annually are the result of endometriosis. Similarly, “pregnancy” and/or “menopause” are often touted as curative, but such claims are equally untrue. Many patients will need complex, multidisciplinary surgery combined with adaptation of lifestyle changes; indeed, we believe in an integrated, patient-centered approach here at the CEC.
Still – despite the stark outlook on the disease, there is help and hope! Surgery (in the proper hands), alternative therapies, diet and nutrition, acupuncture, physical therapy and other complementary treatments can all be helpful at effectively managing symptoms. We believe high-quality, minimally invasive excisional surgery is the cornerstone of any effective management plan.
Surgical Treatment: confusion often surrounds the surgical approaches for endometriosis. It is important to understand that the laser is a tool – not a method. Likewise, Laparoscopy is the surgical approach (minimally invasive) – not a tool. The Da Vinci robotic-assisted procedure is also an approach, not a method. It is important to understand that tool and method are not nearly as important as skill of the surgeon: if he or she cannot excise, they cannot excise using any method or tool. For example: laser can be used to safely and successfully perform laparoscopic resection (excision) of all disease, as we do – or it can be used to superficially and incompletely burn surface lesions. It’s imperative to determine which method your surgeon will be using and understand their disease knowledge, approach and expected outcome. Again: the tool is not as important as the skill of the surgeon who uses it, and most tools can be used to facilitate a number of surgical approaches.
At the CEC, we use the C02 laser as an effective tool to achieve deep excision. Dr. Albee was among the early and few pioneers to focus their work solely on treating endometriosis and pelvic pain pathology, a legacy carried forward by Drs. Sinervo and Kongoasa today. We do not practice obstetrics here at the CEC, and concentrate only on endometriosis and causes of pelvic pain. “LAPEX”, as coined by Dr. Albee (Laparoscopic Excision), differs significantly from less meticulous laser/other surgical techniques including laser vaporization and electrocautery as commonly performed by many ObGyns. These methods destroy tissue, making microscopic evaluation impossible and leaving behind endometriosis “roots” – leading to high recurrence. LAPEX is indeed the gold standard for the definitive treatment of endometriosis and may alleviate many of the associated symptoms, but is practiced by only select advanced gynecologic-endoscopic surgeons in the world. Our award-winning staff is among the few in the world who are Board Certified and accredited as such. Excision requires highly advanced surgical expertise and commands intense training on the part of the practitioner, as well as a complete and thorough (and accurate) understanding of endometriosis etiology, pathophysiology, sequela and far-reaching consequences.
Endometriosis of the bowel, bladder and beyond can be safely and completely removed with the laser through excision, as can dense adhesions and deep, infiltrating peritoneal disease. All excised tissue is sent to the pathology lab for examination. We also utilize intraoperative adhesion barriers and surgical techniques to minimize formation of secondary (de novo) adhesions. We work with a full surgical team including colorectal, urologic, vascular, thoracic and other colleagues as needed to ensure all endometriosis, from all areas, is thoroughly resected and removed at the time of surgery – as well as for appropriate collaborative follow-up. Through LAPEX, patients of all ages – at all stages of disease – have an excellent chance of being pain-free for the long-term, with minimal chance of persistent symptoms. Indeed, although excisional biopsy and resection offers a higher success rate in treating the disease, surgical excision also requires a higher level of surgical skill. As a result, many patients may receive incomplete treatment in their own healthcare setting, which in turn may lead to persistent symptoms and recurrent disease. It should be noted that many who have undergone repeated surgeries and had a hysterectomy still suffer from active disease. You can learn more about this topic here.
Still; the need to improve surgical approach and/or engage in timely referrals is unquestionable. To that end, the CEC has long engaged in a robust campaign of education and surgical Fellowships to raise awareness and leave a legacy of improved care for all those with endometriosis (Fellows, residents and others may click here for more information). Through quality surgery, all disease truly can be removed and debulked; allowing the patient’s own lifestyle interventions (e.g. physical therapy, diet/nutrition, exercise, acupuncture, etc.) to be most effective and ensure maximum outcome. Above all, genuine compassion for those who battle this insidious illness must be present, and this is what we strive for here at the CEC every day.
Only through early intervention can we reduce the associated morbidity, infertility and progressive symptoms of endometriosis. We must “alleviate our culture of menstrual misinformation” through timely and authoritative disease education – thus leading to reduced costs and most importantly, improved patient outcome. Early diagnosis and proper treatment are critical keys to living well in spite of the disease.
The Center for Endometriosis Care (CEC) is a COEMIG-designated Center of Excellence which approaches endometriosis treatment unflinchingly through our multidisciplinary, integrated, patient-centered approach. We believe there is help – and hope. Please let us know how we can assist you.