Endometriosis Diagnosis

Diagnosis

Age (reproductive year, most commonly at 25-29 years old)
In utero exposure to environmental toxins like diethylstilbestrol which increases the incidence of endometriosis
Family history of endometriosis (7x higher risk than with no family history)

Ideally done during early menses because endometrial implants are likely to be largest and deep infiltrating, hence more easily detectable
Perform abdominal inspection and palpation, a rectovaginal examination, and assess the uterus’ mobility, position and size
Diagnosis is more definite if deeply infiltrative nodules are found on the uterosacral ligaments or in pouch of Douglas, and/or lesions are directly seen in the vagina or cervix
Note that there may be no abnormal findings on physical exam
For patients who are not sexually active, a rectal-abdominal exam may be better tolerated than a vaginal-abdominal exam
A cotton swab can be inserted into the vagina to document patency and exclude complete or partially obstructive anomalies such as a transverse vaginal septum, imperforate or microperforate hymen, or an obstructed hemivagina

Other Frequent Findings:

Urinalysis and urine culture to identify pain originating in the urinary tract (eg cystitis, stones)
Pregnancy test and tests for sexually transmitted infection (STI) like gonorrhea, chlamydia, when appropriate

Miscellaneous Test

Serum CA-125

No value as diagnostic tool in endometriosis, though it may be used to assess the presence of an undiagnosed adnexal mass
Also elevated in ovarian epithelial neoplasia, myoma, adenomyosis, acute pelvic inflammatory disease (PID), ovarian cyst, pregnancy

Transvaginal Sonography (TVS)

Considered the 1st-line imaging tool to examine suspected endometriosis
Should be performed to determine whether a pelvic mass or structural anomaly is present
Useful in diagnosing or excluding rectal endometriosis
May identify an ovarian endometrioma and help identify other structural causes of pelvic pain, such as ovarian cysts, torsion, tumors, genital tract anomalies and appendicitis

Distinguishes endometrioma from other ovarian cysts with 83% sensitivity and 89% specificity
Ovarian endometrioma may be diagnosed in premenopausal women with findings of ground glass echogenicity and 1-4 compartments and absence of papillary structures with blood flow

Magnetic Resonance Imaging (MRI)

May be helpful in some cases to better define an abnormality suspected by sonography

Other Imaging Studies

Cystoscopy, colonoscopy and rectal ultrasonography may be required if deep endometriosis is suspected

Laparoscopy

May also be used for therapeutic purposes
Should not be done during or within 3 months of hormonal treatment to avoid under-diagnosis

3 cardinal features (ie ectopic endometrial glands, ectopic endometrial stroma, and hemorrhage into adjacent tissue) should be present
In adolescents, features of endometriosis may be atypical (ie clear vesicles and red lesions)

A negative laparoscopy does not exclude the diagnosis of endometriosis
Depending on the severity of the disease found, it is best to remove the endometriotic lesion at the same time
Differential diagnoses (eg endosalpingiosis, mesothelial hyperplasia, hemosiderin deposition, hemangiomas, adrenal rests, inflammatory changes, splenosis and reactions to oil-based radiographic dyes) can be excluded by biopsy

Laparoscopic Classifications (based on location, extent and severity of lesions)

Revised American Society for Reproductive Medicine (rASRM) Score [formerly the Revised American Fertility Society (rAFS) Score]

Noted aspects include bilaterality, depth of invasion, size, involvement of the ovary and cul-de sac, and density of adhesions
Scores are as follows: 1-5 minimal disease (stage I), 6-15 mild disease (stage II), 16-40 moderate disease (stage III), >40 severe disease (stage IV)
Does not take into account the retroperitoneal structures and deep infiltrating endometriosis

Enzian Staging System
- Presence of deep infiltrating endometriosis is taken into account
- Supplements the rASRM score with a description of deep infiltrating endometriosis, retroperitoneal structures and other organ involvement

Biopsy

May be considered in suspected endometriosis lesions and endometriomas to help confirm the diagnosis and exclude possible malignancy

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