Outspoken struggles of Hollywood actress cum comedian – Amy Schumer and her surgery for endometriosis have brought high attention to the existing backlogs in the disease.

TOP INSIGHT
Outspoken struggles concerning a Hollywood actress cum comedian – Amy Schumer’s surgery for endometriosis, have brought high attention to the existing backlogs in the disease-management strategies. A study has finally discovered a link between the NPSR1 gene and endometriosis.
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
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.
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.
Source-Medindia
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