Currently endometriosis is classified as a disease amongst the medical community. This disease is notorious for being elusive to both diagnosis and effective treatment for a multitude of compounding factors. As a result of this difficult nature of endometriosis, there may be some benefit in reclassifying and examining endometriosis as a syndrome. In this article we will outline the differences between a syndrome and a disease, discuss why endometriosis is poorly diagnosed and treated, and outline some pros and cons to a potential reclassification.

Before discussing a possible reclassification, how does a syndrome differ from a disease?

A syndrome is a collection of symptoms that occur together with or without a known cause. A disease is a condition with defined and identifiable symptoms, consistent physiological and anatomical characteristics, known pathophysiological processes, and an established biological cause. (1)

Possible inaccuracies with the current classification of endometriosis

Based on the definition above, some argue there are some inaccuracies with classifying endometriosis as a disease as it is currently. (1) As stated above, a disease should have defined and identifiable symptoms. However, endometriosis doesn’t have a set of consistent symptoms and is known for manifesting itself differently in separate individuals. Additionally, diseases have known pathophysiological processes and an established cause. Endometriosis does not have either of these features as lesions are not consistently related to symptoms, the anatomical characteristics vary, the cause and pathophysiology are unknown yielding response to treatment unpredictable. (1)

Why is endometriosis currently difficult to diagnose and treat?

The elusivity of endometriosis is a product of a complex interplay of factors resulting in difficulty diagnosing and treating the disease. Many of the perceived pros of reclassification are a result of addressing or mitigating the causes of this elusivity.

Presentation of symptoms often differs for different patients. Some patients may have severe cases of endometriosis with little to no symptoms, while some may have mild superficial endometriosis with severe pain and symptoms. (2) Irrespective of treatment approach, roughly 50% of women with endometriosis have recurrent symptoms over a 5 year period. (3)

Endometriosis can also be coexisting with other conditions with similar symptoms such as IBS, fibroids, fibromyalgia, IBD and autoimmune conditions, other gynecological conditions, and even some cancers. This can mislead physicians into attributing symptoms to these other conditions due to a general lack of awareness of endometriosis and the wide array of symptoms it can cause. (4) A limited record of the possible symptoms and the frequency of these symptoms in patients with the disease further exacerbates this problem. This along with a wide range of possible, but not definite, symptoms, renders symptom-based diagnosis difficult for physicians that do not specialize in the disease.

No labs or radiology studies have been proven sufficient to rule out or diagnose the condition. See this article with regards to the effectiveness of imaging for detecting endometriosis.

Potential benefits of reclassification of endometriosis as a syndrome

With regards to endometriosis, a reclassification of the disease to a syndrome would place symptoms among the diagnostic criteria, along with the visualization of endometrial implants. Currently the diagnostic criteria for the disease is merely the visualization of endometrial tissue. (1) There are many potential benefits for patient outcomes with reclassifying endometriosis as a syndrome that may improve treatments, patient outcomes, and physician awareness.

Due to the elusivity outlined above, on average, it can take 7 years and seeing 7 separate physicians from onset of symptoms related endometriosis to reach a proper diagnosis. (5, 6) The inclusion of symptoms in the diagnostic criteria for endometriosis, could spread awareness amongst physicians of the various manifestations of endometriosis, thus prompting earlier diagnosis and treatment, and limit unnecessary costs to the patient.

The high recurrence rate of the symptoms regardless of treatment approach often means that to increase the quality of a patient’s life, symptoms must be managed over the course of treatment. Reclassifying as a syndrome will encourage the use of a multidisciplinary team of physicians to limit the impact of symptoms on patient physical and mental health.

By including symptoms in the diagnostic criteria, reclassification of endometriosis as a syndrome could further encourage research into the symptoms of endometriosis—further spreading awareness and educating physicians of the many symptoms. A better understanding of symptoms could improve outcomes in patients not responsive to traditional treatments.

Potential downsides to classifying endometriosis to a syndrome

There is justifiable concern that reclassification of endometriosis as a syndrome could promote “conservative” treatments with high side effect profiles that do not cure endometriosis and only temporarily decrease severity of symptoms (read more here).

Increasing emphasis on the symptoms of endometriosis may mislead providers and patients away from attempting to pursue a permanent cure to the disease. The only cure for endometriosis is the excision of endometrial implants, and this change in terminology could dissuade a proper referral to an endometriosis specialist and the consideration of endometriosis resection.

How to get the best of both worlds

Whether the medical community opts to reclassify endometriosis as a syndrome, it is important that patients are being cared for by a multidisciplinary team headed by an endometriosis specialist. A change of terminology alone without this approach would be limited in its utility. To maximize the effectiveness of treatment and potential benefits of reclassification of endometriosis as a syndrome, while also minimizing the downsides of reclassification, the goal for treatment should be excision of endometrial implants with a mitigation of effects of the wide array of symptoms to improve patient comfort and experience.

If you are living with endometriosis or believe you may be, schedule an appointment with CEAPS online, by email at [email protected], or over the phone by calling (703) 505-0444 to discuss treatment options!

Authors:

           Gaby Moawad, MD, FACOG

Charbel Marche

Citations:

• Hickey M, Missmer S, & Horne A (2020, August 13). Reclassifying endometriosis as a syndrome would benefit patient care. The BMJ Opinion.
• Johnson NP, Hummelshoj L, Adamson GD, et al. World Endometriosis Society consensus on the classification of endometriosis. Hum Reprod 2017;32:315-24.
• Becker CM, Gattrell WT, Gude K, Singh SS. Reevaluating response and fail-ure of medical treatment of endometrio-sis: a systematic review. Fertil Steril 2017;108: 125-36.
• Ballard KD, Seaman HE, de Vries CS, Wright JT. Can symptomatology help in the diagnosis of endometriosis? Findings from a national case-control study. BJOG 2008; 115: 1382-91.
• Ballard K, Lowton K, Wright J. What’s the delay? A qualitative study of women’s experiences of reaching a diagnosis of en-dometriosis. Fertil Steril 2006;86:1296-301
• Nnoaham KE, Hummelshoj L, Web-ster P, et al. Impact of endometriosis on quality of life and work productivity: a multicenter study across ten countries. Fertil Steril 2011; 96(2): 366.e8-373.e8.