The exact cause is not clear.
Consequently, these outer tissues become thickened and result in pelvic pain and bleeding (similar to the normal menstrual cycle). The intermittent bleeding leads to irregular menstrual cycle in the women.
The symptoms of endometriosis are not prompt, but rather vague and non-specific that varies with different cases. Hence, it might be sometimes even difficult to differentiate it from common bowel disorders like irritable bowel syndrome (IBS).
Endometriosis may affect nearly 10% of women globally. However, the figures may not be accurate as many women suffer the diseases in silence due to the lack of apt symptoms, adding to the excess of undiagnosed cases.
Struggles in the Treatment
“There are many therapies available for the treatment of endometriosis-associated pain, ranging from gonadotropin-releasing hormone (GnRH) agonists to antagonists to oral contraceptives. However, the efficacy of these medications is lacking – for example, in Schumer’s case; she had difficult and extensive surgery. The safety profile often limits long-term use of endometriosis medications, as serious side effects such as bone mineral density (BMD) loss may occur. An endometriosis therapy with high efficacy and safety is much needed,” says Sarah Bundra, a Pharmaceutical Analyst at GlobalData.
An Oxford team for Endometriosis CaRe Center, led by Dr. Thomas Tapmeier, has discovered that the pain associated with endometriosis may be linked to a specific gene – NPSR1 gene.
The extensive and difficult surgery of Schumer harks back the scientific community of the prevailing gap in endometriosis treatment. Hence, this discovery may help uncover the multifactorial etiologies of the disorder, thereby easing the management strategies.
In addition, GlobalData’s interview with a key opinion leader (KOL) also highlighted the benefit of potential genetic testing of endometriosis in decreasing the time from symptom onset to treatment.
“If researchers are able to uncover a definitive genetic link with the indication, then cases can be caught earlier, decreasing the delay from symptom onset to treatment. Rather than waiting to see if a woman develops the indication, physicians would be able to utilize genetic testing to pre-emptively diagnose patients and begin treatment earlier. This is one of many potential solutions that should be further explored to provide necessary treatment and diagnoses for women affected by endometriosis,” says Bundra.
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