What is endometriosis: Symptoms and diagnosis - Markham Fertility Centre (2025)

What is endometriosis: Symptoms and diagnosis - Markham Fertility Centre (1)

March is Endometriosis Awareness Month, a time dedicated to shedding light on a condition that is widely misunderstood, underdiagnosed, and undertreated. Endometriosis affects approximately 1 in 10 women, yet many go years without a proper diagnosis. This post explores what endometriosis is, its symptoms, and the methods used to diagnose it.

Read about Endometriosis explained with Dr. Zeni, Endometriosis Surgeon

Read about The impact of endometriosis on fertility treatment outcomes

What is Endometriosis?

Endometriosis is a condition where the tissue that normally lines the inside of the uterus (endometrial tissue) grows outside the uterus. This misplaced tissue can be found on the ovaries, fallopian tubes, bowel, rectum, and, in rare cases, even on the diaphragm, lungs, and brain. Because this tissue responds to hormonal changes, it causes inflammation and pain as it thickens, breaks down, and bleeds with each menstrual cycle.

Theories on the Causes of Endometriosis

Despite extensive research, the exact cause of endometriosis remains unknown. However, several theories attempt to explain its origin:

  1. Retrograde Menstruation: Menstrual blood flows backward through the fallopian tubes into the pelvic cavity instead of leaving the body through the cervix and vagina.
  2. Lymphatic Spread: Endometrial cells may travel through the lymphatic system, spreading to distant areas such as the lungs or brain.
  3. Genetic and Immune System Factors: Some researchers believe that genetic predisposition and immune system dysfunction play roles in the development of endometriosis.

Symptoms of Endometriosis

The severity of symptoms does not always correlate with the extent of the disease. Some women with minimal endometriosis experience severe pain, while others with extensive disease may have mild or no symptoms. The most common symptoms include:

1. Painful Periods (Dysmenorrhea)

  • Severe cramping that requires prescription-strength pain medication.
  • Pain significant enough to cause missed work or school.
  • Some individuals may require emergency room visits due to the intensity of the pain.

2. Chronic Pelvic Pain

  • Pain that persists throughout the menstrual cycle, not just during menstruation.
  • Continuous abdominal and pelvic discomfort.

3. Pain During Intercourse (Dyspareunia)

  • Pain specifically felt during deep penetration.
  • Distinct from conditions like vaginismus, which causes pain at vaginal entry.

4. Painful Bowel Movements (Dyschezia)

  • Deep internal pain during bowel movements, not related to hemorrhoids or anal fissures.
  • May be accompanied by alternating diarrhea and constipation.

5. Bladder Symptoms

  • Painful urination.
  • Occasional presence of blood in urine (though this is quite rare).

How Endometriosis Affects the Body

Endometriosis is an inflammatory condition that leads to scar tissue formation, causing organs to stick together. Examples include:

  • Uterus: The uterus may become retroverted and adhere to the rectum, causing pain and discomfort.
  • Ovaries: Endometriosis can lead to ovarian cysts (endometriomas) and cause ovaries to stick to the pelvic wall or bowel.
  • Bowel and Bladder: The condition can cause irritation, inflammation, and adhesion of these organs, leading to digestive and urinary symptoms.
  • Inflammatory Effects: The pelvic organs exist in an “inflammatory soup,” causing widespread pain.

Diagnosing Endometriosis

Endometriosis can be challenging to diagnose because symptoms often overlap with other conditions. There is no single test for definitive diagnosis, but several methods are used to evaluate the presence of the disease.

1. Medical History and Symptom Assessment

  • A thorough history is taken to assess pain levels, menstrual cycle patterns, and associated symptoms.
  • The presence of severe menstrual cramps, chronic pelvic pain, painful intercourse, and bowel issues raises suspicion.

2. Physical Examination

  • A pelvic exam may reveal:
    • Nodules in the cul-de-sac (area behind the uterus).
    • A fixed, retroverted uterus.
    • Ovarian cysts suggestive of endometriosis.
  • However, a normal pelvic exam does not rule out endometriosis.

3. Ultrasound Imaging

  • Traditional ultrasounds are not highly effective in detecting endometriosis.
  • They can identify ovarian endometriomas (endometriosis-related cysts), but not smaller lesions or adhesions.
  • New research in “endometriosis mapping” aims to improve ultrasound detection.

4. Magnetic Resonance Imaging (MRI)

  • Provides more detailed imaging than ultrasound.
  • Can be useful in identifying deep infiltrating endometriosis.
  • Limited availability and long wait times in many healthcare systems.

5. Laparoscopy (Gold Standard for Diagnosis)

  • A minimally invasive surgical procedure where a camera is inserted into the abdomen to visualize and biopsy lesions.
  • Provides the most definitive diagnosis.
  • Wait times for surgery can be long, depending on healthcare access.

Blood Tests and Experimental Markers

There is no specific blood test for diagnosing endometriosis, but some markers have been studied:

1. CA-125 Blood Test

  • Originally used as a marker for ovarian cancer, CA-125 can be mildly elevated in endometriosis.
  • Not specific to endometriosis, as it can also be elevated in other inflammatory conditions.
  • Levels above 40-50 may suggest inflammation, but a normal result does not rule out endometriosis.

2. ReceptivaDx (BCL-6 Marker Test)

  • A uterine lining biopsy that measures BCL-6, a protein associated with inflammation.
  • Used primarily in fertility patients with recurrent implantation failure.
  • Controversial due to limited studies and lack of acceptance by general gynecologists.

Differentiating Endometriosis from Other Conditions

1. Endometritis vs. Endometriosis

  • Endometriosis: Endometrial tissue exists outside the uterus, causing inflammation and scarring.
  • Endometritis: Inflammation of the uterine lining due to infection or bacterial overgrowth.
  • Diagnosis of endometritis requires a biopsy of the uterine lining.

2. Adenomyosis vs. Endometriosis

  • Endometriosis: Endometrial tissue implants outside the uterus.
  • Adenomyosis: Endometrial tissue grows into the muscular wall of the uterus.
  • Adenomyosis often causes heavy periods, an enlarged uterus, and severe menstrual cramps.

Endometriosis is a complex and often misunderstood condition that affects many aspects of a person’s health. Symptoms vary widely, making diagnosis challenging. While laparoscopy remains the gold standard for confirmation, advancements in imaging and biomarker research continue to evolve.

If you suspect you have endometriosis, consult a healthcare provider to discuss your symptoms and explore diagnostic options. Increased awareness and early intervention are key to improving quality of life for those affected by this condition.

Get a referral to see one of the Fertility Specialists at Markham Fertility Centre.

What is endometriosis: Symptoms and diagnosis - Markham Fertility Centre (2025)

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