Categorized primarily by symptoms such as chronic pelvic pain, painful menstrual cramps in the abdomen and lower back, heavy or irregular periods, pain during or after sex and infertility, endometriosis is a gynecological condition often nicknamed the “missed disease.”
Due to symptoms that often mimic other conditions, inconsistencies in diagnosis and the fact that it is an idiopathic disease — meaning there is no known cause — endometriosis is difficult to diagnose and often overlooked. While there is an estimated rate of one in 10 of those within reproductive age with the condition, the American Journal of Obstetrics and Gynecology states that six of 10 cases often go undiagnosed. On average, it takes between four to 11 years for an individual to get an endometriosis diagnosis, and is often diagnosed to those in their 30s and 40s, despite the condition affecting those at any reproductive age.
Endometriosis is a condition where endometrium — the tissue that lines the uterus to prepare the body for pregnancy — grows in places outside the uterus. This typically includes the ovaries, outside surface of the uterus, fallopian tubes, ligaments, space between the rectum and the bladder, and the lining of the pelvic cavity. Less common places for growth include the cervix, bladder, lungs, intestines, rectum, vagina or vulva and abdomen. This tissue does not shed the way it does inside the uterus, causing inflammation and cysts.
The condition itself has four stages that progress in severity and location — Stage I: Minimal, Stage II: Mild, Stage III: Moderate, Stage IV: Severe. The stages are not reflective of the amount of pain an individual has; some with stage one experience severe, painful symptoms while some with stage four do not experience any symptoms at all — though conception success rates tend to decrease in later stages.
Alongside being an idiopathic disease, endometriosis currently has no cure.
Nonsurgical treatment options include medicinal hormone therapy such as oral contraceptives with estrogen and progesterone, progestins and gonadotropin-releasing hormone agonists or antagonists. Ovulation and menstruation suppressants are notable for aiding in slowing down the progression of symptoms. Many doctors also recommend using over-the-counter or prescription pain relief medications, or doing pelvic floor therapy.
The primary surgical treatment option is laparoscopy — small incisions followed by excision or ablation of the tissue. The less common surgical care is a laparotomy, a large incision to remove the endometrium. Both these options provide short-term relief, though the pain comes back for many individuals. Another surgical treatment option is a hysterectomy — removal of the uterus — with or without an oophorectomy — removal of the ovaries. While highly effective, the procedure does induce menopause,removes the ability to get pregnant and still has potential for the pain to return.
While not diagnosed for many reasons, another hurdle is the difficulty in the diagnosis process itself. A true endometriosis diagnosis requires laparoscopic surgery. Patients can be presumptively diagnosed through nonsurgical methods, such as transvaginal ultrasounds or MRIs — like myself.
New research has shown a new testing method that has an ability to greatly shift the way patients are diagnosed. Researchers have recently published data in the Journal of Minimally Invasive Gynecology of a blood-based test that can accurately detect endometriosis. The test uses “peripheral blood sampling with quantification of three microRNAs via qPCR, three protein biomarkers, one steroid hormone using immunoassay, as well as the participant’s age and body mass index,” according to the researchers.
The original study included 218 participants, 137 with endometriosis and 81 controls. An independent, retrospective validation study included 80 participants, 40 with endometriosis and 40 controls. The study featured participants from the United States, Europe and Hong Kong
The validation study found that the blood test accurately detected 80% of confirmed cases and ruled out the disease in 97.5% of the control participants.
The blood test was also able to accurately detect endometriosis in 61.5% cases that were missed through nonsurgical imaging.
The study also found that the biomarker panel and modeling framework in the blood test show accurate detection of the condition in different menstrual cycle phases. The researchers urge that this result should be taken as exploratory and would require further testing to prove accuracy.
The blood test is continuing to undergo research with geographically and clinically diverse participants to further test the accuracy.
With the lack of research on endometriosis combined with the complexity of the condition itself, all progress is extremely important. The researchers state that the “findings support the development of a clinically applicable non-invasive, multi-omic blood-based assay as a valuable diagnostic aid for the detection of endometriosis.”
They go on to say that when the test is used as a rapid assessment method — also known as a triage test — or as an aid-to-diagnosis, “[the] test has the potential to complement existing clinical pathways by identifying individuals who may benefit from further diagnostic evaluation or empirical treatment.”
If this test continues to show positive results, this could become a fundamental part in pre-diagnosistic or triage testing, helping individuals move forward towards a diagnosis.
While this test is a significant marker in the progression of research and education of endometriosis, it is important to reflect upon the fact that there is little research out there. Though often recognized as one of the most painful conditions, “endometriosis has remained largely ignored in government policy and research funding globally.” Without continued research such as this, many individuals will continue to suffer without answers.
Izabella Ducato is the Editor-in-Chief and can be reached at izabella.ducato@ubspectrum.com
