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Is Endometriosis Genetic? Plus, 3 Other Common Questions, Answered by a Doctor

Over the past few years, celebrities like Lena Dunham, Padma Lakshmi and Julianne Hough have talked candidly about their experiences with endometriosis. It’s a chronic condition in which tissue that normally lines the uterus grows outside the uterus, causing severe, painful cramps and affecting as many as one in ten women in the U.S. But despite public figures’ openness, there’s still some confusion surrounding the chronic condition. That’s why we checked in with Dr. Dan Martin, Scientific and Medical Director at the Endometriosis Foundation of America, for answers to some common questions, including whether or not endometriosis is genetic.

1. Is Endometriosis Genetic? 

According to Johns Hopkins Medicine, endometriosis affects between two and ten percent of American women of childbearing age. Let’s say that number is closer to ten percent. Of that ten percent of the population who has endometriosis, Dr. Martin tells us that it’s thought that about 50 percent of those cases are related to genetics. (He notes, though, that although 10 percent is usually given as the general population prevalence of endometriosis, focused studies commonly have lower percentages. “Although genetics are important in endometriosis, genetic tests are not routinely conducted in gyn practice for endometriosis, as we do not have adequate DNA markers to diagnose endometriosis,” says Dr. Martin.

When it's not caused by genetics, endometriosis can be brought on by retrograde menstruation (when menstrual blood containing endometrial cells flows back through the fallopian tubes and into the pelvic cavity instead of out of the body), surgical scar implantation (when, after a surgery, endometrial cells attach to a surgical incision), immune system disorders or more, according to the Mayo Clinic

2. What Are the Symptoms of Endometriosis? 

The first symptom, Dr. Martin explains, is generally menstrual cramps so bad that you consider seeing a provider. “About ten to 20 percent of women who have cramps that interfere with work, school, childcare or other activities will be diagnosed with endometriosis.” He adds that you don’t have to have debilitating cramps to have endometriosis, though, since some folks control those symptoms (even if they don’t know it) with NSAIDs (like ibuprofen or aspirin), oral contraceptives, lifestyle management (like anti-inflammatory diets, topical CBD creams or heating pads) or other complementary approaches. Though he admits that symptoms vary from person to person, other non-specific symptoms include infertility, pain with sex, abdominal swelling, bladder spasms, bowel cramps, fatigue, nausea and abnormal vaginal bleeding. “Those are non-specific as they also occur with pelvic infections, interstitial cystitis, irritable bowel, complications of pregnancy, PMS, fibromyalgia and other conditions.” Your doctor can help you make sense of what you’re feeling.

3. How Does Endometriosis Affect Fertility (and Does It Cause Infertility)? 

Dr. Martin tells us that endometriosis is associated with inflammation that can interfere with both ovulation and implantation. That’s not to say it’s impossible to have a healthy pregnancy if you have endometriosis. Surgery, he says, can work wonders. “Surgically removing endometriosis can increase fertility by as much as 30 percent in general,” he explains. “More specifically, when inflammation is diagnosed in unexplained infertility patients using BCL6 or beta 3 integrin testing, treatment with hormonal suppression or surgery has resulted in pregnancy rates as high as 84 percent.”

4. What Are the Most Common Treatments and/or Ways to Manage Symptoms?

When it comes to pain, Dr. Martin says that initial home treatment can be NSAIDs, sleep, heating pads and an anti-inflammatory diet. “The next step is pharmaceuticals like oral contraceptives (pseudo-pregnancy) or other estrogen/progestin hormonal treatment, accompanied by alternative and complementary therapy.” If, on that course of treatment, pain still isn’t controlled in six to 12 months, or if there are tender nodules or masses (cysts or nodules) on ultrasound or MRI, surgery is often used. Dr. Martin tells us, “More complete hormonal suppression (pseudo-menopause) may be used as an alternative to surgery or if surgery is not successful…Some women do not respond to focused treatment of endometriosis and require management of chronic pain.” As always, it’s crucial to consult your gynecologist to determine what works best for you and your body.

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