Endometriosis is a condition where a type of tissue called endometrium that normally lines the uterus grows on other organs inside the body. These lesions of endometrial tissue are often called nodules which can be detected in the ovaries, fallopian tubes, bladder, bowels and other parts of the body.  Although some women may not experience any symptoms at all, pain can occur in the lower abdomen and with sexual intercourse. It affects around 6-10% of women in their reproductive age and around half of these women experience infertility.

It is also considered one of the three conditions related to infertility and around 40% of women with endometriosis cannot get pregnant. In the current scenario, women experience pain for around 10 years before the diagnosis is made. In addition, the current treatments do not provide long-term relief for those suffering from chronic pelvic pain and are also ineffective meaning it only works for short periods of time. Research has shown that increased risk of endometriosis is associated with several factors such as exposure to certain chemicals used in plastics (phthalates), industrial chemicals, specific ultraviolet filter used in cosmetics and high urine concentrations of chromium. However, recently in the 65th Annual Scientific Meeting of the Society for Reproductive Investigation, a Chief Scientific Officer reported that a study in 1,077 women with surgically proven endometriosis shows an indication that uncommon mutations could be involved in endometriosis’s genetic predisposition.

The research shows that the DNA variants detected were strong factors for the development of endometriosis thus confirming the involvement of certain genes. With no cure available, there is a need for the development of genetically based tests and targeted therapeutic strategies to help individuals with this disorder.

A Novel approach for treating the Chronic Pelvic Pain

Chronic pelvic pain is often challenging to health care providers mainly because of its poor response to therapies as the management often means having knowledge of several aspects  such as musculoskeletal and neurologic system. A new approach for the treatment of chronic pain aims to shut it down at its source in the nervous system; the plexus of nerves connected with a pain area. The symptoms of chronic pain can deteriorate with the ‘up-regulation’ of the involved nerves, over stimulating them thereby causing permanent damage known as neuropathic pain. The new approach involves a procedure that inserts the Intellicath – a tubing delivering a small quantity of anesthetic to calm the nerves and reducing the pain. It is usually removed after 7 to 10 days which can provide long-lasting and maybe permanent relief.

Endometriosis impacting fertility  

The inflammation and the development of lesions in the pelvis can impact fertility in a number of ways particularly the tubal blockage and sperm motility. Even in the case where oocyte is successfully fertilized, the progesterone resistance could reduce the implantation. It is also established that the immune system is dysfunctional among women with this condition. Various number of immune cell types such as macrophages, dendritic cells, neutrophils, natural killer cells, B cells appears to be dysregulated. The use of therapeutics such as contraceptive steroids, aromatase inhibitors and non-steroidal anti-inflammatory agents help to relieve the pain, their use or ceasing the use don’t necessarily improve fertility.

Although why some women experience infertility with endometriosis while others don’t is not known but it is speculated that the immune system dysfunction plays an important role in endometriosis-associated infertility. The therapies for endometriosis has targeted on the levels of estrogen and COX-2, however, these therapeutics don’t uniformly reduce the associated symptoms. However, the current debate is whether to initiate a treatment medically, operate or to combine both for the infertile women. The research shows that medical treatment does not improve spontaneous pregnancy rates although surgery is beneficial for mild endometriosis. ART improves pregnancy rates when compared to those with no treatment, however, medical, surgical and ART treatments don’t need to be done separately and women could benefit from the combination of the three approaches.

Analysis of genetic data as a new test for endometriosis

For endometriosis developing on the pelvic lining and organs, the current method of diagnosing and staging the disease involves laparoscopy. However, a new prototype diagnostic method is underway that can distinguish endometriosis from other disorders of the uterus by detecting the patterns of genetic activity. In this research, the computer-based technology is used to analyze the gene activity of tissue samples taken from the uterine tissue. Using this system, the researchers can develop a grouping system that can distinguish samples from those with endometriosis and those with other conditions of the uterus and the pelvis. This indicates that endometriosis can be diagnosed from a tissue sample obtained by inserting a thin plastic catheter through the cervix to remove the sample.

Microbiome as early diagnostic and therapeutic tool

Investigators at the Southern Illinois University School of Medicine have proposed to develop an innovative diagnostic and therapeutic tool for the treatment of endometriosis by analyzing the woman’s own microbiome. The proposed study hopes to identify the bacterial communities related to endometriosis thus assisting in the development of targets to restore healthy bacterial population which can lower the inflammation associated with the disease. Identification of the bacterial community profile related to the condition could also serve as a diagnostic tool to be used by a physician rather than the current surgical intervention.

Endometriosis and the risk of ovarian cancer

A review was conducted that summarized the scientific data associated with endometriosis and ovarian cancer which were published in the last five years. After reviewing the final list of 11 scientific papers, it shows that endometriosis is associated with the risk of developing epithelial ovarian cancer (EOC). This could be because of the high estrogen concentration with endometriosis resulting in the malignant proliferation of endometriotic cysts or as the result of the mutations in the ARIDIA gene and the loss of BAF250a expression. The oxidation stress occurs because of iron produced in the fluid of endometriotic cysts which may result in the genetic mutations and the progression of malignant ovarian cysts.

Future Hope

Recently, the works in endocrinology, neuroendocrinology, tumorigenesis and genomic will help alter the current approaches used for the management of the disease. The future hope is the development of treatment targeted to genes that are associated with endometriosis. Particularly among patients presenting moderate to severe forms of the disease, genome-wide association studies have illustrated reproducible loci associated with endometriosis. However, greater research is required before these findings can be translated to clinical practice.