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“20 Years of Mysterious Pain: How I Was Finally Diagnosed with Endometriosis”
A Challenging Conundrum
Pelvic pain? Infertility? Dyspareunia? “IBS” type symptoms? Bladder pain? Bloating? Endometriosis could be at the root of these symptoms – and many more.
A growing public health crisis 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.
Endometriosis is much more than simple, so-called “killer cramps” (as it is often mistakenly referred to), with symptoms routinely occurring apart from menses 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 such as 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” and affects many women and girls. Dysmenorrhea is NOT the same as endometriosis. Endometriosis is NOT the same as simple ‘painful periods.’
Endometriosis can impact women and girls of all ages – menstruators and non-menstruators alike (including some rare men and before a girl’s first period). The disease has also been documented in the human fetus. It is quite common in teens, though vastly underdiagnosed. Without a doubt: endometriosis has a significant social and psychological impact on those affected by the disease, across several domains of their lives. The time for endometriosis to receive recognition as a major health issue is long past due.
Normal endometrium is the lining of the uterus, which breaks down and is shed during menstruation. The normal endometrium is profoundly, histologically different from the ectopic glands and stroma that comprise endometriosis, clinically defined as the presence of functioning endometrial-like tissue in places other than the lining of the womb. This tissue resembles - but is not the same as – ‘normal’ endometrium. This aberrant process gives rise to pain, inflammation, development of endometriomas (“chocolate cysts”), fibrosis, formation of adhesions (fibrous bands of dense tissue) and more.
The pain and symptoms can 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.
Importantly; 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.
There has been data over the past few 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 more. 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.
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.
Common, oft-debilitating symptoms of, and potential associations with, endometriosis include (but are not limited to):
* Crippling menstrual pain
* Pelvic pain at any time, often intractable
* Bowel or urinary disorders/pain/dysfunction
* Painful intercourse/pain with sexual activity
* Infertility/pregnancy loss/possible link to preterm births
* Immune-related disorders
* Allergies, migraines or fatigue that tends to worsen around menses
*The disease may resemble some symptoms of, and has been linked to, adenomyosis.
Endometriosis can 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, but as disease recognition grows, 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 is also at least one report in the literature of vena cava invasion in a post-menopausal woman. Symptoms often start early in life, but may be ignored by caregivers, healthcare consumers and practitioners alike. To wit; an estimated 70% of teens with pelvic pain go on to be later diagnosed with endometriosis.
The only way to obtain a definitive diagnosis of endometriosis is through surgery; typically via 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 of disease may 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 is needed.
Image Copyright (c) American Society for Reproductive Medicine
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.
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.
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 is 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 wholly 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? 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-seat 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. Such 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.
Alternative therapies, such as diet and nutrition, acupuncture, physical therapy, and other complementary treatments can be helpful at effectively managing symptoms on a non-invasive basis when combined with quality excisional surgery, which we believe is the cornerstone of any effective management plan.
Dr. Albee and Dr. Sinervo are among the early and few pioneers to focus their work solely on treating endometriosis and pelvic pain pathology. We do not practice obstetrics here at the CEC, and concentrate only on endometriosis and causes of pelvic pain. Our Board Certified surgeons use the C02 laser to *dissect* the disease, and having been doing so successfully for more than twenty years via a procedure we coined “LAPEX”, or Laparoscopic Excision. LAPEX differs significantly from other, less meticulous laser/other surgical techniques including vaporization and electrocautery, 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 unfortunately practiced by only select accredited, 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.
Confusion often surrounds the surgical approaches for endometriosis. It is important to understand that the laser is a tool – not a method. Laparoscopy is the surgical approach (minimally invasive) – not a tool. Likewise, 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.
At the CEC, our surgeons use the laser as a precision cutting tool, NOT as a means of tissue destruction – vastly different from vaporization and superficial techniques. 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. Our data – dating twenty-five years back across more than 4,500 patients from 43 countries and over 8,000 procedures – shows that in our population, true recurrence is actually quite low when endometriosis is thoroughly and meticulously excised from all locations.
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.
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 (preceptors can 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.
Unfortunately, many who struggle with the disease are often misdiagnosed and/or directed to “manage” the pain for years through repeat, superficial surgeries in which all disease is not removed or use of painkillers and/or medical therapies like oral contraceptives and hormonal injections, but these only mask symptoms and do not treat disease 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.
The Center for Endometriosis Care (CEC) is a COEMIG-designated Center of Excellence which was formed over two decades ago by Robert B. Albee, Jr., MD and is led by CEC’s Medical Director, Ken R. Sinervo, MD – Board Certified, global pioneers in the precision care and treatment of the disease. Often misdiagnosed and ineffectively treated, the symptoms of disease often chronically persist because it is rarely treated through the advanced, meticulous Laparoscopic Excision (LAPEX) procedure we have been performing here for decades, across thousands and thousands of patients. Such incomplete treatment results from even well-meaning physicians who do not recognize the disease or remove it in its entirety, leaving deep disease – and painful symptoms and pathology – behind. Suppressive medications and hysterectomy are recommended as next-step ‘cures’ – which of course they are not. We believe the key to success is removing disease, not organs. True disease recurrence is actually quite low if all endometriosis is thoroughly excised from all locations – including the bowel, bladder and beyond.
Only through early intervention can we reduce the associated morbidity, infertility and progressive symptoms of endometriosis. We must “alleviate our culture of menstrual misinformation” for our daughters 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. Please let us know how we can help you.