People with endometriosis may be more likely to have a close relative with the disease. However, research into the potential link is still developing.
Endometriosis is a complex condition. Many factors beyond heredity may increase a person’s risk of developing it.
In this article, learn about the possible relationship between genetics and endometriosis, as well as the other risk factors.
Preliminary research suggests that endometriosis may have a hereditary component. However, it is unlikely that genetics are the only or the most influential risk factor.
About 5.9% of participants with endometriosis had a first-degree relative with the condition, compared with just 3% of those without the health issue.
While the likelihood of having a relative with the condition was almost doubled in the endometriosis group, the likelihood was still very low.
The study did not find significant differences in symptoms when they compared those of people with endometriosis and a family history of the issue and those of people with endometriosis but no family history.
There are many complicating factors. For example, many doctors were ill-informed about endometriosis until recently, and it often went misdiagnosed. Some research indicates that as many as 70% of cases in the 1970s were undetected.
This means that mothers and other relatives of people with endometriosis may have had the condition but never received a diagnosis.
An endometriosis gene?
Researchers continue to look for specific genetic causes of endometriosis.
One potential target is a variant of a gene called transforming growth factor β1 gene-509C/T. A 2012 meta-analysis of prior research did not find a significant link between this gene and the condition, however.
Instead, researchers suggest that interactions between genes and the environment may play a role.
According to a 2016 review, epigenetic factors may play a role in endometriosis. These are factors can change gene expression.
A person with a gene that increases the risk of endometriosis may not develop the disease without exposure to certain epigenetic risk factors, such as stress or pollution.
Because family members often live in similar environments, epigenetic risk factors may be shared within a family.
A person with endometriosis may experience periods that occur unusually frequently and last longer than 7 days.
The primary symptom is pelvic pain, and a person may also experience stomach or digestive issues, such as constipation, that coincide with menstruation.
People with endometriosis may be more likely to have had their first periods before the age of 11 and more likely to experience infertility.
Beyond the potential genetic link, a range of factors may increase the risk of developing endometriosis, including:
- alcohol use
- advanced age
- lifestyle and environmental factors, such as stress, exposure to pollution, and exposure to hormone-disrupting chemicals
Some of these factors may themselves be hereditary.
The risk of endometriosis increases with age. This may stem from accumulating effects of lifestyle and environmental factors. Or, it could be that genes linked with endometriosis change with age.
Endometriosis affects at least 176 million females worldwide, and at least 1 in 10 in the United States.
Depression rates are 15–20% higher among people with chronic illnesses, including endometriosis. Chronic pain is often a significant factor.
One study of doctors in a region of French region found that
The time it takes to diagnose endometriosis appears to be shortening in the U.S., according to
A 2016 study from the Netherlands found the average time to diagnosis to be more than
Findings such as these indicate that doctors and the public are unfamiliar with the symptoms. Many people with endometriosis believe either that their symptoms are “normal” or something that they have to “live with.”
Endometriosis causes tissue similar to the uterine lining to grow outside the uterus. This can cause a wide range of symptoms, depending on where the tissue grows.
- pelvic pain, which may be severe
- fertility problems
- bleeding from the rectum
- bleeding between periods
- passing large blood clots during a period
- heavy periods that last a long time or come very frequently
- pain during sex
- chronic lower back pain
- leg pain
- pain when urinating
- digestive issues or painful bowel movements, especially during menstruation
Endometriosis is an estrogen-dependent disease, so lowering estrogen levels in the body may reduce the risk of the condition or improve symptoms in people who already have it.
Some strategies for lowering estrogen levels
- exercising regularly
- having no more than one caffeinated drink a day
- having no more than one alcoholic drink a day
- switching to a birth control method with less or no estrogen, if applicable
For women who want to become pregnant, endometriosis can diminish fertility, but certain medications and approaches may help.
A doctor can perform surgery to remove endometriosis tissue and adhesions.
While endometriosis may run in families, many people with endometriosis cannot identify a relative with the disease.
This may be because people do not tend to talk about painful reproductive health issues or because endometriosis was not a well-known condition until recently.
A person with symptoms but no family history of the disease should not assume that they do not have it.
Anyone with endometriosis symptoms should contact a doctor for a diagnosis and treatment.