Endometriosis and Infertility:
- Affects 5-10% of women of reproductive age,
- Of every 10 women with endometriosis, 2 to 5 also suffer from infertility.
It is a disease in which the lining of the uterus (or endometrium) grows in other parts of the body, causing excessive pain during menstrual cycle.
The primary symptom is usually pelvic pain, which is easily confused with pain caused by unrelated conditions like ovarian cysts or irritable bowl syndrome.
How to diagnosis Endometriosis?
The gold standard for diagnosis is laparoscopy. Some patient might opt for pelvic examination or ultrasound, but they are less accurate diagnostic techniques compared to laparoscopy.
Recent advances in the field of genetics have identified biomarkers in the genome that could help identify women who are at risk of developing endometriosis.
You might ask: so what?
No one likes surgery, especially if that person is asymptomatic. But, if the option of a simple and non-invasive screen test were available, it would help identify the risk of developing endometriosis and prevent delay in diagnosis.
On the road to genetic testing to diagnose endometriosis…
Although we know endometriosis is heritable, and women are 6x more likely to develop endometriosis if they have first-degree relatives with the disease, unfortunately… a genetic test for endometriosis diagnosis is not yet available.
Unlike familial breast cancer that is monogenetic, meaning mutation in one gene like BRCA1 or BRCA2 or CHEK2 causes the disease, endometriosis is polygenic, meaning it is caused by mutations in MANY genes. In this scenario, it is not easy to pinpoint genes that are involved in disease development. New studies are currently underway to compare DNA of endometriosis sufferers and healthy women to identify genetic variations or ‘genetic markers’ that are more frequently associated with this disease.
After we identify genes that participate in the development of endometriosis we can develop a genetic test to help with early disease diagnosis, reducing the need for invasive diagnostic surgery. In the future, this knowledge may translate to more effective treatment for infertility.