Sections

Workup

Approach Considerations

Few laboratory tests prove to be valuable in the diagnosis of endometriosis, although some tests may be helpful in ruling out specific conditions in the differential diagnosis.

Routine radiographs are not recommended unless other disease entities requiring these studies are in the differential diagnosis.

Pelvic ultrasonography, computed tomography (CT) scanning, and magnetic resonance imaging (MRI) are only useful in the case of advanced disease with endometrial cyst formation or severe anatomic distortion. Intravenous pyelography and colonic studies are indicated if the clinical presentation suggests extragenital involvement of these organ systems.

Gross visualization of endometrial implants remains the definitive method of diagnosis. In this era of minimally invasive surgery, laparoscopy is the procedure of choice. Laparotomy can be another method of diagnosis. This is usually performed when another cause of patient pain is suspected.

Hysterosalpingography may reveal tubal occlusion or periadnexal adhesions.

Conscious pain mapping (ie, with the patient awake) has been used to locate the specific areas that cause pain.^[42]Subsequently, the patient is placed under anesthesia and the deposits are ablated.

Laboratory Studies

A complete blood cell (CBC) count with differential may help differentiate pelvic infection from endometriosis as well as assess the degree of blood loss.

Urinalysis and urine culture should be sent if urinary tract infection (UTI) is in the differential diagnosis. In addition, cervical Gram stain and cultures should be considered, because sexually transmitted diseases (STDs) can also cause pelvic pain and infertility.

With a serum cancer antigen 125 (CA-125) test, serial measurements have a low sensitivity in detecting endometriosis,^[49]although levels may be elevated in advanced cases, but the results are useful as prognosticators of treatment outcome.^[50]However, normal posttreatment values do not mean that endometriosis is absent. Thus, the test lacks adequate sensitivity or specificity to be of clinical value.

Outpatient tests

A diagnostic test based on the detection of autoantibodies against Thomsen-Friedenreich (T) antigen (Gal beta1-3GalNAc) bearing proteins appears promising. The sensitivity and specificity of the test are 80%. This test may prove useful in the outpatient setting.^[51]

Another office test is the marker CCR1. The expression of the blood-borne marker CCR1 mRNA in peripheral blood leukocytes is significantly higher in women with endometriosis compared with unaffected women.^[52]

Ultrasonography

Endometriosis can be assessed by either transvaginal ultrasonography or endorectal ultrasonography. The ultrasonographic features of endometriomas vary from simple cysts to complex cysts with internal echoes to solid masses, usually devoid of vascularity.^[53]

Transvaginal ultrasonography is a useful method of identifying the classic chocolate cyst of the ovary. The typical appearance is that of a cyst containing low-level homogenous internal echoes consistent with old blood.

MRI and CT Scanning

Magnetic resonance imaging (MRI) offers a superior combination of 3-dimensional (3-D) imaging with high-resolution special and temporal resolution, low observer dependency, no radiation exposure, and none of the risks associated with iodinated contrast agents.

With dynamic contrast-enhanced MRI, dynamic changes in MR signal intensity in selected tissues can be detected. Some of the newer generation contrast agents can be loaded with specific antibodies that allow for targeted imaging.

MRI is helpful in detecting rectal involvement^[54]and has been shown to accurately detect rectovaginal endometriosis and cul-de-sac obliteration in more than 90% of cases when ultrasonographic gel was inserted in the vagina and rectum.^[55]MRI has a higher sensitivity for detecting pelvic masses than ultrasonography but is limited in identifying diffuse pelvic endometriosis.

However, the cost-effectiveness of this MRI for endometriosis has yet to be justified for use as a routine tool.

Using computed tomography (CT) scanning, endometriomas may appear as cystic masses, but their appearance is nonspecific and this imaging modality should not be relied on for diagnosis. Complications of endometriosis, including bowel obstruction and hydronephrosis, may be seen on CT scans.

Laparoscopy and Biopsy

Laparoscopy is considered the primary diagnostic modality for endometriosis. This is an invasive procedure with an overall sensitivity of 97% and a specificity of only 77%.

Endometriosis has been described as protean in appearance. The classic lesions are blue-black or have a powder-burned appearance (see the first 2 images). However, the lesions can be red, white, or nonpigmented. Peritoneal defects and adhesions are also indicative (see the second 2 images). Bear in mind that microscopic evidence of endometriosis may be found in normal-appearing peritoneum.

Powder-burn lesions of endometriosis.

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Active endometriosis with red and powder-burn lesions and adhesions from old scarring.

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Peritoneal erosions and adhesions in the posterior cul-de-sac. These are typical of more severe endometriosis.

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Adhesions due to endometriosis.

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The most common sites of involvement found during laparoscopy are the following, in descending order (see the following images):

Ovaries
Posterior cul-de-sac
Broad ligament
Uterosacral ligament
Rectosigmoid colon
Bladder
Distal ureter

The following images are from various sites of endometriosis involvement.

Endometriosis. Red lesions on various organs.

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Endometriosis. Red lesions on the sigmoid colon and cul-de-sac.

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Peritoneal erosions and adhesions in the posterior cul-de-sac. These are typical of more severe endometriosis.

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Typical appearance of minimal endometriosis on the uterosacral ligaments. Note that some are pigmented (contain hemosiderin), whereas others are not.

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In a study of low-grade ovarian endometrial adenocarcinomas, KRAS mutations were identified in 29% of endometriosis-associated tumors but only 3% in which endometriosis was not identified. This may be relevant to future targeted therapies.^[56]

Histologic features

Histologic demonstration of both endometrial glands and stroma in biopsy specimens obtained from outside the uterine cavity is required to make the diagnosis of endometriosis. Occasionally, the finding of fibrosis in combination with hemosiderin-laden macrophages is sufficient for a presumptive diagnosis.

Treatment & Management

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Media Gallery

Powder-burn lesions of endometriosis.
Endometriosis. Chocolate cyst of the ovary.
Endometriosis. Red lesions on the sigmoid colon and cul-de-sac.
Adhesions due to endometriosis.
Endometriosis. Red lesions on various organs.
Active endometriosis with red and powder-burn lesions and adhesions from old scarring.
Scarring due to old disease and active endometriosis.
Endometriosis. Moderate-to-severe disease.
Typical appearance of minimal endometriosis on the uterosacral ligaments. Note that some are pigmented (contain hemosiderin), whereas others are not.
Peritoneal erosions and adhesions in the posterior cul-de-sac. These are typical of more severe endometriosis.

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Author

G Willy Davila, MD Chairman, Department of Gynecology, Section of Urogynecology and Reconstructive Pelvic Surgery, Cleveland Clinic Florida

G Willy Davila, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, Colorado Medical Society, Florida Medical Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: AMS/Astora; Astellas, Uroplasty/Cogentix<br/>Received research grant from: Pfizer; A-Cell; Coloplast; Cook Myocyte.

Coauthor(s)

Dharmesh Kapoor, MD, MBBS, MRCOG Consultant Gynecologist, Royal Bournemouth Hospital

Disclosure: Nothing to disclose.

Elizabeth Alderman, MD Director, Pediatric Residency Program, Director of Fellowship Training Program, Adolescent Medicine, Professor of Clinical Pediatrics, Department of Pediatrics, Division of Adolescent Medicine, Albert Einstein College of Medicine and Children's Hospital at Montefiore

Elizabeth Alderman, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, North American Society for Pediatric and Adolescent Gynecology, Society for Adolescent Health and Medicine

Disclosure: Nothing to disclose.

Mark K Y Hiraoka, MD Assistant Professor of Obstetrics and Gynecology, University of Hawaii, John A Burns School of Medicine; Consulting Staff, Department of Obstetrics and Gynecology, Queen's Medical Center

Mark K Y Hiraoka, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Medical Association, Association of Professors of Gynecology and Obstetrics

Disclosure: Nothing to disclose.

Gamal Mostafa Ghoniem, MD, FACS Professor and Vice Chair of Urology, Chief, Division of Female Urology, Pelvic Reconstructive Surgery, and Voiding Dysfunction, Department of Urology, University of California, Irvine, School of Medicine

Gamal Mostafa Ghoniem, MD, FACS is a member of the following medical societies: American College of Surgeons, American Urogynecologic Society, American Urological Association, International Continence Society, International Urogynaecology Association, Society of Urodynamics, Female Pelvic Medicine and Urogenital Reconstruction

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Astellas<br/>Received research grant from: Uroplasty/Cogentix, Astellas, Allergen.

Barry D Peskin, MD, MBA Head, Section of Ambulatory Gynecology, Department of Gynecology, Cleveland Clinic, Florida

Barry D Peskin, MD, MBA is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Society for Reproductive Medicine, Cleveland Society of Obstetricians and Gynecologists, North American Menopause Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Frances E Casey, MD, MPH Associate Professor, Director of Family Planning Services, Department of Obstetrics and Gynecology, VCU Medical Center

Frances E Casey, MD, MPH is a member of the following medical societies: American College of Obstetricians and Gynecologists, Association of Reproductive Health Professionals, National Abortion Federation, Physicians for Reproductive Health, Society of Family Planning

Disclosure: Nothing to disclose.

Chief Editor

Michel E Rivlin, MD Former Professor, Department of Obstetrics and Gynecology, University of Mississippi School of Medicine

Michel E Rivlin, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Medical Association, Mississippi State Medical Association, Royal College of Surgeons of Edinburgh, Royal College of Obstetricians and Gynaecologists

Disclosure: Nothing to disclose.

Additional Contributors

Thomas Michael Price, MD Associate Professor, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Director of Reproductive Endocrinology and Infertility Fellowship Program, Duke University Medical Center

Thomas Michael Price, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Obstetricians and Gynecologists, Phi Beta Kappa, Society for Reproductive Investigation, Society for Reproductive Endocrinology and Infertility, American Society for Reproductive Medicine

Disclosure: Received research grant from: Insigtec Inc<br/>Received consulting fee from Clinical Advisors Group for consulting; Received consulting fee from MEDA Corp Consulting for consulting; Received consulting fee from Gerson Lehrman Group Advisor for consulting; Received honoraria from ABOG for board membership.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Tod C Aeby, MD,to the development and writing of a source article.