Studies have found that endometriosis affects 10 to 15 percent of women of child-bearing age. And yet, despite how common this disease is — and how utterly debilitating its symptoms can be — we still know far too little about what causes it. Treatments are similarly bare-bones, with options limited to hormonal medications like birth control, common pain meds, and surgery, per Mayo Clinic. Fortunately, the tides are slowly starting to shift and some of the questions surrounding endo — like if endometriosis is genetic or not — are finally starting to get firm answers.
For years, scientists believed there was a potentially hereditary aspect to endometriosis, a condition that occurs when the tissue that lines the uterus grows outside the uterus itself and leads to painful symptoms like excruciating cramps, fatigue, and excessive bleeding, as well as “silent” symptoms like infertility and ovarian cysts.
A 1980 study was the first “systematic genetic study” of endo, involving 123 patients with surgically proven endometriosis. The researchers found that 5.9 percent of the subjects’ mothers and 8.1 percent of their sisters had endometriosis, compared to 0.9 percent in the control group — a substantial difference pointing to endo running in families. Subsequent studies led to similar results, and scientists ultimately determined that relatives of people with endometriosis are around 5 to 7 times more likely to have it.
“Endometriosis does appear to have a genetic component,” confirms Dr. Victoria Scott, a urologist specializing in pelvic floor disorders with the Down There Doctors. The specifics remain somewhat fuzzy, she tells SheKnows, as “the exact genes involved and how they are passed on to children are not completely understood.”
Continuing research means we might be closer to knowing. A 2023 study led by the researchers at University of Oxford analyzed DNA from over 60,000 people with endometriosis and over 700,000 without it, representing the largest genetic study of the disease. They found 42 areas in the genome that harbor “variants that that increase risk of endometriosis,” per a press release, ultimately identifying “a range of genes that were differently expressed in [endometrial and blood] tissues and therefore had a likely role” in endometriosis development. They even found that genetic differences between ovarian or cystic endometriosis (endometriosis that causes cysts on the ovaries) and more generalized endometriosis throughout the pelvis.
With all this said, we’ll note that just because you have a family history of endometriosis doesn’t mean you’re certain to have it as well. “Many women without any family history of endometriosis develop it and many women who do have a mother or sister with the condition do not necessarily develop it,” Scott says.
It’s still important to recognize and study the genetic aspect of endometriosis, though, especially on a patient-to-patient basis. “Any medical condition with either a known hereditary pattern or predisposition is important to know when evaluating patients for symptoms that could be due to a variety of causes,” says Dr. Karyn Eilber, a urogynecologist with the Down There Doctors. For example, she tells SheKnows, “If a woman has abdominal pain and multiple family members have endometriosis then this should be high on the list of potential causes of her abdominal pain, whereas if there is a strong family history of kidney stones, then stones might be ruled out first.”
More broadly, continuing to confirm and explore the genetic component of endometriosis could be key in finding new ways to treat it. For example, the 2023 study noted that many of the genes potentially involved in endometriosis also play a role in “pain perception and maintenance,” the press release noted — and that there was a “shared genetic basis” between endo and other chronic pain conditions like migraines and back pain. Per the study, that connection suggests that something called central sensitization could be involved, a condition that occurs when someone with chronic pain actually experiences changes in their central nervous system, per the Cleveland Clinic Journal of Medicine — causing them to become even more sensitive to other types of pain.
What that means is that new, pain-focused treatments could be developed (or existing ones revamped) for endo patients, providing another choice beyond the hormonal or surgical treatment options currently on the table. Senior author Krina Zondervan said the “wealth” of new genetic knowledge “will help the research community in their efforts to come up with new treatments and possibly new ways of diagnosing the disease.”
While research continues, this is a good time for a reminder: brush up on your family’s medical history. If you have family members with endometriosis and are concerned about developing it yourself, “you should certainly discuss this with your gynecologist,” Dr. Scott says. “They can provide personalized recommendations for evaluation and monitoring for symptoms, if necessary.”
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