Endometriosis has gained attention in the past several years with famous faces getting candid about their struggles. On Saturday 18 September, comedian and actress Amy Schumer shared that she had both her uterus and appendix removed due to the condition. Captioned “If you have really painful periods, you may have #endometriosis,” Schumer uploaded a video to Instagram sharing that her doctor had found 30 spots of endometriosis. Olivia Culpo, Halsey and Chrissy Teigen are a few among many other Hollywood stars who have also discussed their endometriosis issues. In February, Teigen experienced excessive bleeding during her third pregnancy, resulting in a miscarriage and eventually endometriosis surgery.

Unfortunately, endometriosis, nicknamed ‘endo’, is a disease whose symptoms are non-specific, varying from case to case and overlapping with other diseases such as irritable bowel syndrome (IBS). As such, many women with the condition suffer in silence, waiting years before their symptoms are properly addressed. Because of this, the exact number of women who are affected by endometriosis is unknown, although estimates hover around 190 million women, or 10% worldwide. With celebrities putting a spotlight on the illness, a much-needed discussion continues about the indication, which is pervasive yet often undiagnosed.

Endometriosis is a disease in which endometrial-like tissue is found outside of the uterus—that is, in areas of the body where it is not meant to be, such as the fallopian tubes. Menstruation normally occurs when the endometrium, or inner lining of the uterus, thickens and sheds each month when conception does not take place. When endometrial-like tissue is stuck inside of the body, local inflammatory reactions occur, leading to scar tissue formation and adhesions. Symptoms include but are not limited to chronic pelvic pain (CPP), severe and frequent cramps during menstruation (dysmenorrhea), genital pain during sexual intercourse (dyspareunia) and, in severe cases, infertility. Given that symptomology varies across cases, with some women experiencing no symptoms at all, misdiagnosis or wholesale dismissal are common. There are medications available to treat endometriosis-associated pain, such as oral contraceptives or gonadotropin-releasing hormone agonists. Schumer’s recent extensive surgery, however, points to the need for more robust and novel therapies, as available treatment options were insufficient in addressing her condition.

The exact cause of endometriosis is not well understood, with anatomical, hormonal, immunological, oestrogenic, genetic, epigenetic and environmental factors all having been cited as potential causes. Risk factors include early age of one’s first period, short menstrual cycles, long duration of menstrual flow, heavy bleeding during menstruation, delayed childbearing and a family history of the disease. With so many potential sources, capturing and treating cases is not easy, but Dr Thomas Tapmeier and his team at Oxford’s Endometriosis CaRe Centre have made a discovery that may have clarified this issue.

Dr Tapmeier and colleagues analysed the genomes of women with endometriosis both with and without a family history of the indication. They then cross-compared these results with the DNA of women without the disease. Their findings led the team to the NPSR1 gene, which they assert carries ‘significantly more’ harmful variants in women with endometriosis compared to other genes on the chromosome of interest—chromosome seven. Interestingly, macaque monkeys, who menstruate and can also have endometriosis, have an NPSR1 chromosome seven equivalent. The Oxford team noted variations in this region more often in macaques with endometriosis than those without.

Dr Tapmeier and his team then discovered, through a series of experiments using cells and later mice, that inhibiting NPSR1 activity seemed to limit pain. If true in humans, this could have massive implications for the future of endometriosis treatment and diagnosis. GlobalData interviewed a key opinion leader (KOL) in the endometriosis field in the US, who stated that potential genetic testing in endometriosis families to see who is at risk would catch cases, thereby decreasing symptom onset to diagnosis time. Rather than waiting to see if a woman develops the indication, physicians would be able to utilise genetic testing to preemptively diagnose patients and begin treatment sooner.

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Most women afflicted by endometriosis wait years, seeing a number of health professionals, before receiving an official diagnosis—a delay that can be detrimental to a woman’s ability to conceive. Although Dr Tapmeier’s team has made a significant discovery, there is still much more to be understood about NPSR1’s exact role in the condition before a drug therapy can be developed. In addition, Schumer’s difficult and extensive surgery acts as a reminder of the gap in endometriosis treatment and patient need. No woman should need to have her appendix and/or uterus removed because of unbearable pain; improved efficacy and safety profiles for drug therapies are much needed. The less mystery surrounding endometriosis and its aetiology, the faster diagnoses may be made and tailored treatments implemented for individual patients.