Medically reviewed by: Melissa A. Delgado, MD, FACOG
Melissa A. Delgado, MD, FACOG is the founder and owner of The Chronic Pelvic Pain Center of Northern Virginia. Dr. Delgado is an experienced, board-certified OB/GYN and has spent the past 10 years dedicating her time to understanding complex and persistent pelvic pain.
Endometriosis is a chronic condition that impacts the daily lives of millions of women around the globe. It happens when the tissue that lines your uterus, known as the endometrium, starts to grow outside of the uterus, which shouldn’t happen.
This abnormal growth can lead to a range of unpleasant symptoms, the most common being chronic pelvic pain. Other symptoms might include heavy menstrual bleeding and even infertility in severe cases where the condition is not diagnosed until it has progressed significantly.
While there is no cure for endometriosis and the exact cause of endometriosis is still not fully understood, extensive research has shed light on the potential genetic factors that contribute to its development.
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Understanding the Genetics of Endometriosis
To better understand the genetic components behind endometriosis, geneticists have carefully compared the genomes of women with endometriosis to those who show no signs of endometrial outgrowths.
Multiple studies have shown that there is a statistically significant prevalence of endometriosis among women with a family history of the condition. This certainly suggests that there may be genetic factors at play.
However, it is also important to note that not all cases of endometriosis can be attributed to genetics. Other environmental and lifestyle factors may also contribute to the development of the condition (more on this later).
Is Endometriosis Genetic? Exploring the Research
Numerous scientific studies have identified various genes that may play a role in the development of endometriosis.
Genes and hormones
A study published in the Journal of Assisted Reproduction And Genetics found that a gene called WNT4 is associated with an increased risk of endometriosis. Another study published in Reproductive BioMedicine Online identified a gene called CDKN2B-AS1 that may also be involved in the development of endometriosis.
Other genes that do not cause endometriosis but regulate hormones, the inflammatory response, and cell growth in the body have also been identified as potential causal agents for the condition.
Hormones, particularly estrogen, play a crucial role in the development and progression of endometriosis. Estrogen is responsible for stimulating the growth of the endometrial tissue. Imbalances in hormone levels, such as an excess of estrogen or a deficiency in progesterone, can contribute to the development of endometriosis.
Unsurprisingly, in a study published in BMC Cancer, the gene HNF1B, which helps regulate estrogen — a hormone that plays a crucial role in the menstrual cycle and the growth of endometrial tissue — was identified as a potential indirect genetic culprit.
Then there’s the gene IL1A, which helps regulate the immune system and is also a potential causal agent.
Comorbidities
Other studies have focused on the comorbidities often found alongside endometriosis. These are other conditions that occur frequently in women who also have endometriosis, and which may have similar or shared root causes. It’s a long list, and none of the studies are 100% conclusive, but knowing which conditions are often linked to endometriosis can help.
These findings constitute a growing body of research on the condition that is helping the medical world better understand the highly complex condition and the multitude of genetic factors that may contribute to its occurrence.
Examining Endometriosis Inheritance Patterns in Families
Zooming out, researchers have also looked at the way endometriosis is inherited from parent to child.
While there is a genetic component to endometriosis, it does not follow the typical Mendelian inheritance pattern. This means that the condition is not solely passed down from parent to child in a predictable manner.
However, having a close family member with endometriosis does increase the likelihood of developing the condition.
The existing body of research strongly suggests that multiple genetic variations with small effects contribute to the risk of developing endometriosis. This makes it difficult to determine the exact inheritance pattern of the condition.
Simply put, based on all the research we have right now, it doesn’t seem like there’s a single gene mutation or genetic culprit that causes endometriosis, but rather a combination of genetic variations that increase the risk of developing the condition.
Environmental and Lifestyle Factors Behind Endometriosis
While genetics may play a role in the development of endometriosis, it is important to recognize that environmental and lifestyle factors also contribute to the condition.
Studies have also shown that exposure to certain environmental toxins, such as dioxins and pesticides, may increase the risk of developing endometriosis.
Furthermore, lifestyle factors such as diet and exercise can also influence the development and severity of endometriosis. A healthy lifestyle that includes regular physical activity and a balanced diet rich in fruits and vegetables has been associated with a lower risk of endometriosis.
Finally, a possible cause of endometriosis that has also been strongly linked to family and environmental history is childhood sexual abuse and trauma. While this is a much darker potential explanation for the condition, it is nonetheless worth exploring.
Not all women who are sexually abused will develop endometriosis (in fact, the vast majority of them will not), but there is a significant correlation between childhood sexual trauma in the pelvic region and endometriosis in many women who develop it in adulthood.
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Is There Genetic Testing for Endometriosis?
Genetic testing is a rapidly advancing field that holds promise for identifying individuals who may be at a higher risk of developing endometriosis.
However, at present, because the genetic causes of endometriosis are not fully understood, there is no specific genetic test available for diagnosing endometriosis in particular. Genetic testing may be used in research settings to study the genetic variants associated with endometriosis, but it is not yet a routine part of clinical practice.
Right now, women who believe they may have endometriosis are diagnosed through a combination of medical history, physical exams, imaging tests, and even laparoscopic surgery.
In the future, as our understanding of the genetic factors contributing to endometriosis improves, genetic testing may play a role in identifying individuals at higher risk or providing personalized treatment options.
What to Do if You Think You Have Endometriosis
While endometriosis almost certainly has a genetic component that predisposes certain women to develop the condition, it’s also a complex condition with multiple factors.
Genetic variations, hormonal imbalances, family and environmental factors, and lifestyle choices all contribute to the development and progression of endometriosis.
If you suspect you may have endometriosis, it’s very important to consult a healthcare expert who specializes in endometriosis, or at least reproductive health. They can provide an accurate diagnosis and work with you to develop a personalized treatment plan.
Remember, endometriosis is a manageable condition, and with the right support and care, you can take control of your health and well-being.