Is Endometriosis Genetic?
What Research Tells Us
Endometriosis is a condition in which tissue similar to the lining of the uterus is found outside the uterus. The condition can cause painful and irregular periods and infertility. It’s a chronic inflammatory condition that affects close to 10% of reproductive-aged women of all ages and backgrounds.
We aren’t entirely sure what causes endometriosis, but some research links genetic factors to the condition. In this post, we’ll discuss whether endometriosis is genetic and other risk factors that may increase one's chances of developing it.
What is Endometriosis?
Endometriosis is a disease that causes tissue similar to the lining of the uterus (called the endometrium) to grow outside the uterus, primarily in the ovaries, fallopian tubes and the tissue lining the pelvis. The tissue behaves like regular uterine tissue, thickening and breaking down with each menstrual cycle. However, the misplaced tissue continues to grow, resulting in inflammation, scar tissue, and adhesions. Over time, these growths can affect reproductive organs, impacting your menstrual cycle and fertility.
Causes
Despite how common endometriosis is, we don’t fully understand the exact cause. However, researchers believe several factors may contribute to its development. Here’s a breakdown of the most common theories:
- Retrograde Menstruation: Normally, menstrual blood flows out of the body through the cervix and vagina. But sometimes, the blood, which contains endometrial cells, flows backward through the fallopian tubes and into the pelvic area. These cells can then stick to other organs, grow, and cause inflammation and pain.
- Cellular Metaplasia: This happens when certain cells outside the uterus transform into endometrial-like cells and start growing where they shouldn’t. Scientists believe this might explain why endometriosis can appear in unusual places in the body.
- Stem Cells and Blood/Lymphatic Spread: Some research suggests that stem cells may play a role in spreading endometrial-like tissue through the blood or lymphatic system, allowing the disease to develop in different parts of the body.
Common Symptoms
Some people do not have any signs or symptoms of endometriosis, and when they do, it is often misdiagnosed at first because the symptoms can mirror other conditions. Common Symptoms of Endometriosis include:
- Chronic Pelvic Pain: One of the primary symptoms is severe, chronic pelvic pain
- Painful Menstrual Periods: Intense pain, cramping and heavy bleeding during menstruation, also called dysmenorrhea.
- Pain During Intercourse: Pain either during or after penetrative sexual intercourse.
Other symptoms include fatigue, constipation, bloating and diarrhea, which are more common before or during menstrual periods. Additionally, infertility is a symptom of endometriosis. Research estimates that endometriosis affects 25-50% of women facing infertility.
Diagnosis
The only way to confirm an endometriosis diagnosis is via a minor, minimally invasive surgical procedure called laparoscopy. However, your healthcare provider can make a preliminary diagnosis if you have symptoms (i.e., painful periods, heavy menstrual flow, pain in the pelvis, etc.). They can also use imaging techniques like a pelvic ultrasound or Magnetic resonance magnetic resonance imaging (MRI) to look for growths or nodules on and around the pelvic organs.
Genetics and Endometriosis
So, is endometriosis hereditary? The short answer is ‘maybe.’ Some researchers have identified some genetic and inheritability factors behind the condition:
- Based on research, there is nearly a 50% higher incidence of endometriosis when a close female relative, like a mother or sister, already has the disease.
- A 2021 study uncovered a variant in the gene NPSR1 that increases the risk of developing endometriosis.
- Earlier research conducted on a sample of women from the UK, the US and Australia found that variations on chromosomes 1 and 7 were associated with an increased risk of endometriosis. Chromosome 7 might be involved in the development of the womb and its lining.
Will I Get Endometriosis if My Mother Has It?
Just because your mother or sister has the condition, it doesn’t automatically mean you will get endometriosis. It is a complex condition with both genetic and environmental factors. However, if several women in your family have been diagnosed, you should speak with your healthcare provider to review your options.
Other Risk Factors
While we cannot pinpoint who will get endometriosis, aside from genetics, there are some other factors linked to an increased risk of getting the condition:
- Starting the menstrual cycle early: Some studies show a link between early onset of the first menses and an endometriosis diagnosis.
- Shorter menstrual cycles: Women with a menstrual cycle of 27 days or less
- Several lifestyle factors: Smoking and/or drinking alcohol, low BMI
Treatment Options
There are several treatment options for endometriosis:
- Hormonal Contraception: Birth control pills or IUDs can suppress ovulation, thereby slowing down the speed of growths and lesions and reducing symptoms.
- GnRH Agonists: These medications temporarily suppress estrogen production, halting the growth of endometrial tissue.
- Progestin Therapy: Progestins, or progesterone-like hormones, treat endometriosis by thinning the uterus lining and helping with lesions and scar tissue.
- Surgery: Procedures like laparoscopy or excision surgery aim to remove endometrial and scar tissue, restoring a more natural pelvic anatomy. However, there is a chance that the tissue will grow back over time.
Let Us Provide Counsel and Support on Your Endometriosis Journey
Endometriosis can be painful and impact your daily life. Many women can wait up to ten years for a confirmed diagnosis, and during that time, they deal with painful and heavy periods, cramping, and pelvic pain. We don’t think you should have to suffer in silence for that long. If you have a close relative with endometriosis and are displaying some of the common symptoms, request an appointment with a Women’s Health Connecticut provider today so we can help with diagnosis, symptom management and treatments.