the chronicCurrently there is only one method that can confirm a diagnosis of endometriosis. This is via surgery with confirmation of biopsy specimens. While symptoms, patient history, and physical findings can lead to a strong suspicion in identifying the disease, a diagnosis must be confirmed surgically and pathologically. Minimally invasive laparoscopy, or LAPEX, is currently the most common method of surgical diagnosis.
The only way to confirm a definitive diagnosis of endometriosis is still surgically; usually via the minimally invasive procedure known as Laparoscopy.
Due to prevailing misinformation, healthcare providers often misdiagnose endometriosis and are not familiar with which procedure is definitive in diagnosing it. In turn, many patients will undergo several types of testing in the process of diagnosing endometriosis. It is important to understand the purpose and limitations of these methods as you seek care.
The European Society of Human Reproduction Embryology clinical practice guidelines of women with endometriosis published in 2013, states that endometriosis diagnosis is corroborated by the patient history, symptoms and signs, physical examination, imaging techniques, and finally proven by histology after laparoscopy.
Surgery + Biopsy Specimens
Surgery with confirmation of biopsy specimens is the only definitive diagnostic tool for confirming endometriosis. Laparoscopic surgery is the most common diagnostic surgery and is also considered the gold standard of treatment for the disease.
First, it is important to note that endometriosis can only be diagnosed surgically and pathologically. This means that for endometriosis to be diagnosed a surgery is required to evaluate for endometriosis. A specimen suspicious for endometriosis will be sent to the pathologist for confirmation.
Lab Testing
Lab testing cannot be used to diagnose endometriosis. For example, a patient cannot have their blood, urine, or saliva tested to confirm the disease. There are currently no known diagnostic biomarkers that can be used to diagnose endometriosis. While there have been over 50 biomarkers studied, none have had universal success. There is continued interest in this field with recent research emerging on possible markers including anti-mullerian hormone (AMH) and concurrent measurements of CA125, syntaxin-5 and laminin-1. Further studies are needed to know if these are useful markers in diagnosing endometriosis.
Imaging Testing
Imaging testing can be a helpful tool but it cannot be used for diagnosis. Imaging testing includes computed tomography (CT), magnetic resonance imaging (MRI), and ultrasounds. While diagnostic testing can be helpful for presurgical planning, they do not provide clear evidence of endometriosis and cannot be used to rule out or confirm the disease. It is common to have a pelvic ultrasound and MRI before undergoing laparoscopic surgery.
Though symptoms and/or diagnostic testing may give rise to 'informed suspicion' and are helpful for presurgical planning, only surgery permits the requisite visual and histological (biopsy proven) diagnosis. Most importantly, Laparoscopy also facilitates actual treatment of the disease.
Clinical Diagnosis
There has been an increased interest in accepting and treating a clinical diagnosis of endometriosis that relies on patient history and symptoms. This diagnosis would not be proven with surgery. While patients would benefit from an easier and earlier diagnostic method, undergoing medical treatment without a definitive diagnosis has its own clear dangers and limitations.
Unfortunately, pharmaceutical companies have aligned themselves with this approach to promote the use of their ineffective hormonal medications as a standard in diagnosis and treatment. There are proven limitations and risks to using hormonal suppression which will be discussed in Hormonal Medications for Endometriosis. Foregoing a diagnosis and relying on an ineffective medical option is not advised for successful disease management.
Although recent guidelines for the management of chronic pelvic pain suggest that diagnostic laparoscopy may be considered a secondary investigation after the failure of therapeutic interventions, the present study highlights the importance of an early diagnosis for patients who suffer from physical, emotional, and social levels when they remain undiagnosed.
Delays in Diagnosis
Despite the staggering prevalence of endometriosis and the early onset of symptoms for many, it takes an average of 10 years for a patient to receive an accurate diagnosis in the United States. A recent study found that there are four key factors that contribute to the lengthy delay in diagnosis.
The lack of knowledge among patients and medical providers is largely to blame. The stigma surrounding menstruation, women’s health issues, and marginalized communities including trans and non-binary individuals keep the many afflicted silent, isolated, and medically neglected. Ableism promotes a normalization of symptoms and pain in society and leads to further dismissal from the medical community.
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.
Additional factors that contribute to the delay include symptom suppression through hormones and nondiscriminatory investigation methods. While the use of hormonal suppression can provide temporary symptom relief, the disease will continue to progress and require additional treatments, especially once suppression has been stopped. Inadequate diagnostic methods that can not properly identify endometriosis are indiscriminately used. In turn, patients are given inaccurate results, are further dismissed by their doctors, and remain medically neglected.
Importance of Diagnosis
Endometriosis patients see 7 doctors on average, are often misdiagnosed multiple times, and receive unnecessary and inappropriate treatments including irreversible surgical procedures. Studies have shown that the symptoms of endometriosis have a substantial impact on quality of life including the physical, emotional, and social wellbeing of patients. Symptoms are reported to disrupt all aspects of patients' daily lives and are characterized by physical limitations that significantly disrupt health and work performance.
Despite the existence of severe pain, often described as 'intense' or 'overwhelming', patients experienced a delay in receiving a diagnosis of endometriosis, and their symptoms were frequently trivialized or normalized. This, and the limited effectiveness of treatments, affected relationships with partners and family, work, and sexual relations, although individual experiences in each area were diverse.
The medical neglect and abuse of endometriosis patients must stop. As with any disease, it is imperative to receive an early and accurate diagnosis which leads to an appropriate treatment approach and a better quality of life. Having a proper diagnosis also allows for outlets of support and reassurance. Knowing one's medical condition and requirements results in access to work or social modifications.
Patients benefited from a diagnosis, because it provided a language in which to discuss their condition, offered possible management strategies to control symptoms, and provided reassurance that symptoms were not due to cancer. Diagnosis also sanctioned patient’s access to social support and legitimized absences from social and work obligations.
For the next article in the Endometriosis Series, see Treatments for Endometriosis
Endometriosis Series
- Endometriosis 101
- Symptoms of Endometriosis
- Causes of Endometriosis
- How Endometriosis Is Diagnosed
- Treatments for Endometriosis
- Surgical Treatment for Endometriosis
- Hormonal Medications for Endometriosis
- Complementary and Alternative Therapies for Endometriosis
- Endometriosis in Adolescents and Teens
- Endometriosis Resources
- Endometriosis Books