Is Endometriosis Genetic? What Are The Hereditary Risk Factors?

Despite affecting 176 million people worldwide, very little is known about the cause of endometriosis. The path to diagnosis is notoriously lengthy, averaging five years, as symptoms are often dismissed as "normal" or something one must simply endure. This delay and misunderstanding underscore a critical gap in awareness and knowledge about endometriosis. Management and treatment of this condition involve understanding the root cause. Recent studies indicate that there may be a genetic component at play. This article explores what this means and further touches upon hereditary factors and tips to lower endometriosis risk.

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What Is Endometriosis?

Endometriosis is when tissues lining the uterus start growing outside the uterus.

The function of endometrial tissue is to line the uterus.

This layer of tissue grows, thickens, and ultimately breaks down during every menstrual cycle.

However, in endometriosis, this same tissue starts growing on ovaries and fallopian tubes and does not leave the body.

This condition can cause pain and issues with fertility.

Signs And Symptoms

Endometriosis can show a variety of symptoms:

Chronic pelvic pain
Bleeding between periods and sometimes from the rectum
Frequent and heavy periods
Passing large blood clots during periods
Pain during sex
Fertility problems

Causes And Risk Factors

The specific cause of endometriosis is unknown.

However, genetic predisposition can make you prone to developing this disease.

Other risk factors include:

Alcohol use
Stress
Exposure to pollution
Exposure to hormone-disrupting chemicals
Advanced age
Surgical scar complication, where endometrial tissue may attach to a cut made in the abdomen during surgery, such as a C-section.

An image depicting normal uterus vs. endometriosis.

Is Endometriosis Genetic?

Studies report that those with a family history of endometriosis are more likely to have the condition themselves, suggesting a genetic component to this condition.

However, more research is needed to identify the genes underlying this condition and establish any inheritance patterns.

The following sections explain what we know so far regarding the genetic nature of endometriosis.

Family Clustering Of Endometriosis

Studies have found that women who have a close female relative who has endometriosis are 5 to 7 times more likely to suffer from the condition themselves.

Endometriosis that occurs in families tends to be more severe than sporadic cases.

Genes Associated With Endometriosis

Scientists continue to look for specific genes that cause endometriosis.

In a study published in 2019, researchers identified more than two dozen genes that have been linked to endometriosis.

However, no specific gene that causes the disease was identified.

Instead, scientists have found that endometriosis is caused due to a complex interaction between genes.

Let’s explore some of the genes identified in this study and how they can potentially contribute to endometriosis:

Gene(s)	Association With Endometriosis
HOXA10 & HOXA11	HOXA genes are crucial for normal uterine development and attachment of fertilized egg to the endometrium. Decreased levels may lead to impaired implantation and increased endometriosis risk.
LIF & BTEB1	LIF is involved in embryo implantation and inflammation regulation, while reduced BTEB1 levels may affect cell proliferation and differentiation, potentially contributing to endometriosis development.
p27 gene (V109G polymorphism)	The p27 gene controls cell cycle progression. The V109G polymorphism is associated with increased endometriosis risk, possibly altering cell cycle regulation and leading to abnormal cell growth in the endometrium.
PLA2G2A (763C>G polymorphism)	This gene promotes cell proliferation. The 763C>G polymorphism in Iranian women is linked to endometriosis, suggesting that altered PLA2G2A activity may influence cell growth and tissue invasion in the endometrium.
KAZN	It affects cell adhesion mechanisms, potentially influencing the attachment of endometrial cells outside the uterus and the formation of endometriotic lesions.

Can You Inherit Endometriosis?

Endometriosis can run in families, meaning that you have an increased risk of having this condition if any of your close female relatives have it.

Endometriosis is inherited in a polygenic or multifactorial way.

This means that multiple genes are involved in influencing your likelihood of developing endometriosis.

How Polygenic Inheritance Works

Scientists have found that endometriosis is inherited in a multifactorial way.

This means no one specific "endometriosis gene" determines if you will have endometriosis.

The effect of multiple genes together contributes to the risk - all these genes have certain changes called variations, each of which contributes a small percentage of risk.

However, when these small risks are cumulatively considered, it can result in a high risk for endometriosis.

This is called polygenic inheritance, which talks about inheriting multiple gene changes associated with the risk.

If you inherit only 1-2, your risk may be low to moderate. However, if you inherit multiple, then your risk may be on the higher side.

It is also important to understand that genes alone do not influence if you will have endometriosis.

Environmental factors, too, play a part in it, and the interaction of your genes with the environment ultimately determines if you will have the condition.

Is Genetic Endometriosis Preventable?

There is no evidence to suggest that you can prevent endometriosis.

However, you can lower your chances of having the condition if it runs in your family.

Endometriosis depends on estrogen concentration in the body, and you can lower levels of this hormone using these strategies:

Limiting caffeinated drinks to once a day
Cutting down on alcohol
Exercising regularly
If you use birth control, switching to something that has no estrogen in it

Other ways to lower your risk include:

Increasing omega-3 fat intake - helps reduce inflammation
Cutting down on red meat - red meat may increase inflammation and estrogen levels

Endometriosis can cause fertility problems.

If you have endometriosis and are trying to get pregnant, consult a doctor.

You might need surgery to remove endometrial tissue.

Will I Get Endometriosis If My Mom Had It?

Your chances of getting endometriosis increase seven times if your mother or any other first-degree female relative has it.

However, it doesn't doesn't mean that you are bound to have it.

Inheritance of endometriosis is a complex phenomenon and depends on several genetic and environmental factors.

Endometriosis may not always occur, even if it runs in your family.

Is There An Endometriosis Genetic Test?

Endometriosis is diagnosed using the patient's clinical symptoms and a pelvic ultrasound.

Immunological and genetic tests can be performed to confirm if a person has endometriosis.

However, they can't diagnose definitively since a single gene does not cause endometriosis.

Summary: Is Endometriosis Genetic?

Endometriosis is a condition that affects millions of women worldwide every year.

However, doctors and scientists are still not sure what causes it.

This leads to delayed diagnosis and women not getting adequate treatment.

But now, new studies show that endometriosis is genetic.

It has a complex inheritance pattern and runs in families.

However, due to its complex pattern of inheritance that depends on multiple genes, there's no specific genetic test to determine if someone will have endometriosis.

However, this key finding is that endometriosis will help women get treated for this condition faster and more effectively.