"Let's start with the gynecologists," begins Linda Griffith.
"Many of them trained in a day when the classic endocrinology and gynecology textbooks described endometriosis as follows: 'The typical endometriosis patient is a nulliparous white woman in her 30s who is well-educated and tends to be highly anxious.' Yup, that is the profile of the patient with the persistence and resources to get diagnosed prior to the 1990s."
Medical News Today is speaking to Massachusetts Institute of Technology (MIT) biological engineer Linda Griffith on the eve of Endometriosis Awareness Day, which will be marked by a huge peaceful demonstration.
An international "Million Women March" will take place on Thursday, March 13th. It begins in Washington, DC, but involves participants in 53 countries across the world.
"We know that endometriosis incidence is approximately similar across ethnicities and geographies," Griffith continues, "yet many practicing physicians were trained to have misconceptions, and they are still out there practicing."
Though she is not involved directly in either the March or Endometriosis Awareness Day, the event coincides with the publication of illuminating new research on endometriosis by Griffith and her colleagues, as well as a study by researchers at Northwestern University in Illinois who have discovered a new epigenetic basis for the condition.
What the campaign and the new research have in common is a shared recognition of the failings in treatment and particularly diagnosis for women with endometriosis, as well as a desire to force change in these areas. Making sure that doctors and nurses are fluent in modern diagnostic techniques and understand the symptoms of endometriosis is just one item on this agenda.
What is endometriosis and how is it treated?
Women who have endometriosis typically exhibit symptoms for between 6 and 10 years before they are finally diagnosed. Most diagnoses occur in women in their 30s and 40s.
Endometriosis is when the tissue that normally lines the uterus grows on other organs. This might include the ovaries, behind the uterus, or on the bowels or bladder. In very rare cases, endometriosis has even been found growing on the brain or in the lungs.
Responding to changes in levels of estrogen in a woman's body, this extra tissue can grow and bleed - as the uterus lining does - during menstruation. The tissue around the endometriosis can also bleed, break down and become scar tissue, which can in turn cause different organs to stick together.
It is "like someone poured superglue into the pelvis, and organs that normally are free to move around are, all of a sudden, just stuck," Griffith's co-author Dr. Keith Isaacson told The New Yorker in a recent profile on the pair.
The hormones in the birth control pill can sometimes stop endometriosis from growing. However, it does not get rid of existing endometriosis, so severe cases require surgery to remove it. Even this has limited efficacy, as 40-80% of women continue to experience pain after surgery, and some women may even go on to need a hysterectomy.
Endometriosis is a problematic condition to diagnose. Women who have endometriosis typically exhibit symptoms - including severe and debilitating pain - for between 6 and 10 years before they are finally diagnosed.
The disease occurs in 1 in 10 women of reproductive age, but most diagnoses occur in women in their 30s and 40s. Consequently, teenage and preteen girls have high rates of misdiagnosis.
The symptoms of endometriosis can vary from patient to patient. It can mimic other diseases, such as gastrointestinal conditions, and it is perhaps most often confused with menstrual cramping. Though benign, endometriosis has similar properties to some cancers.
Why is it so difficult to diagnose?
It is estimated that up to 200 million women worldwide suffer from endometriosis. Other than outdated training in spotting symptoms, why are doctors still struggling to diagnose such a common condition?
A large part of the problem is that the only way to entirely confirm the presence of endometriosis - and rule out the many other causes of abdominal or pelvic pain - is by analyzing tissue removed through surgery.
Campaigning for a non-invasive test is one of the principal aims of the Million Women March, who see this as being essential for preventing women from being misdiagnosed.
However, "as with many chronic inflammatory diseases, there are no reliable blood or urine or saliva tests - and certainly no genetic tests," says Griffith, who admits, "I am not optimistic that there will be a single such test."
"We are working with the MIT Data-Driven Medical Inferences group on pulling together heterogeneous types of data, including that from a software program we are developing, to manage endometriosis patients and get better hard data on their symptoms. We are still at early stages of this, but I think a holistic approach is needed."
A more recent diagnosis problem has also occurred in the past 15 years, following the introduction of gonadotrophin‐releasing hormone agonist drugs.
Griffith explains that "doctors were told by the companies that patients who had certain menstrual symptoms or pains consistent with endometriosis could be given Lupron, and that if they had pain reduction then they had endometriosis."
The problem Griffith identifies with using such hormone drugs for this kind of diagnosis is that there are "strong placebo effects of many therapies - including effects such as patients wanting to please the doctor - so some women who believe they have endometriosis based on having a response to Lupron may have an entirely different disease."
Innovative analytic approaches prompt rethink of what is known about endometriosis
As yet, scientists have not been able to pinpoint the exact cause of endometriosis, but genetic, environmental and inflammatory components have all been described. One long-standing theory is that endometriosis is caused by "retrograde menstruation," which occurs when cells move up the fallopian tubes into the pelvis.
New research from Prof. Matthew Dyson and Dr. Serdar Bulun at Northwestern University, IL, challenges the retrograde menstruation theory, which they say cannot account for endometriosis that occurs independently from menstruation.
Their work brings a new epigenetic perspective to endometriosis. They claim that, rather than a mutated gene causing endometriosis - which many researchers have hunted for but so far failed to find - the disease is caused by "an epigenetic switch."
Specifically, this switch causes the genetic receptor GATA6 to express, rather than the usual GATA2. This prompts a resistance to the progesterone hormone essential for regulating the female reproductive system, which then results in endometriosis.
Griffith has taken a similarly non-traditional approach in her own endometriosis research examining protein patterns:
"Basically, a disease that affects 10% of women is not likely to have a single genetic origin, and by looking at the other end of the information spectrum - networks of proteins and protein activity states - we are integrating information that happens at the genetic and epigenetic level."
The research by Griffith and her team breaks away from the usual clinical thinking, applying an engineering-type approach to the research that focuses on biological systems.
"I actually come from a chemical engineering background by training," says Griffith. "What do you want to know about the Trans Alaska Pipeline? Just kidding, but I did teach that kind of stuff for years."
Her unexpected move into clinical research, from being endometriosis patient to endometriosis researcher, was actually prompted by her gynecologist and now colleague, Dr. Keith Isaacson.
"Many practicing physicians were trained to have misconceptions, and they are still out there practicing," says Linda Griffith.
Frustrated by recognizing the same endometriosis symptoms in her teenage niece that she had suffered from prediagnosis - symptoms that her niece's own gynecologist discounted as an attempt to get out of school - Griffith finally accepted a longstanding invitation to partner with Isaacson in researching endometriosis.
"My interest was not medical per se," she offers, "but being at MIT - arguably the leading engineering school in the world - it is in our job description to envision and create the future."
She says her work on endometriosis captured the enthusiasm of her MIT colleagues - a department that also applies biological engineering to understanding ocean ecology or making fuel cells - because it is "a perfect problem."
Griffith explains that it is "a big messy problem that should yield to the engineering 'systems biology' approaches to biology complexity my colleagues are pioneering, and great impact if we find something useful. Plus, once we get into diagnostics and patient management, lots of great problems for other MIT colleagues as well."
Are people scared of talking about menstrual aspects of women's health?
One barrier to endometriosis awareness, both in the clinical and scientific communities, is a perceived difficulty in addressing menstrual issues - a difficulty that does not seem to apply to more high-profile women's health concerns, such as breast cancer.
"It is just not common to have menstrual problems at the forefront in my community, yet as we have more women in MIT-type environments, this topic should be one that can be raised without shame if it needs to be," says Griffith. "I had breast cancer, and it was very easy to talk about my situation at MIT. Endometriosis at MIT - not so easy."
This reluctance to engage with conditions like endometriosis is what drives the work of the campaigners behind the Million Women March, as the less people talk about these diseases the less understanding of symptoms and support there is for funding and new research.
"Media coverage about endometriosis, for example, is almost negligible," the march organizers say, adding that:
"There have been many hour-long specials about obesity and diabetes featured on major television networks, or on the cover of national news magazines. However, we are still waiting for the same consideration to be given to the millions of people who have had their lives so profoundly impacted by one of the most painful and crippling disorders ever catalogued in the history of humankind."
The Million Women March takes place on Thursday, March 13th, as part of Endometriosis Awareness Day. Go to the Million Women March Website for more information.