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Menstrual and Uterine Disorders
Non-invasive Tools for the Diagnosis of Endometriosis
Pasquale Florio,
1
Massimo Gabbanini,
1
Francesco Calonaci,
1
Aldo Altomare,
1
Raffaele Battista,
1
Filiberto M Severi,
1
Pietro Litta,
2
Stefano Tamburro
3
and Felice Petraglia
1
1. Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Obstetrics and Gynaecology, University of Siena; 2. Department of Gynaecological
Science and Human Reproduction, University of Padova; 3. Department of Gynaecology, Hôtel-Dieu, Polyclinique, Centre Hospitalier Universitaire Clermont-Ferrand
Abstract
Endometriosis, defined as the presence of endometrial glands and stroma outside the uterine cavity and uterine musculature, is one of the
most commonly encountered gynaecological diseases and, overall, a significant public health issue. Because of the large number of women
it affects and the significant morbidity associated with this disease, there is a pressing need to establish non-invasive methods of diagnosis,
mainly focused on patient-reported symptoms, imaging techniques and serum biomarkers. Studies combining transvaginal ultrasound with
other soft markers, such as medical history, symptom reporting and pelvic examination, have been unsuccessful in identifying non-ovarian
endometriosis. However, reliable serum markers of the disease are currently lacking: serum concentration of CA-125, the most extensively
studied and used serum marker of endometriosis, has a limited diagnostic performance, and the most promising newly proposed markers
(urocortin, sICAM-1) have yet to prove their clinical affordability in large clinical trials.
Keywords
Pain, imaging techniques, markers, CA-125, urocortin, dysmenorrhoea, dyspareunia, rectovaginal endometriosis
Disclosure: The authors have no conflicts of interest to declare.
Received: 28 January 2009 Accepted: 30 March 2009
Correspondence: Pasquale Florio, Research Associate, Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Obstetrics and Gynaecology,
University of Siena, Policlinico ‘Le Scotte’, Viale Bracci, 53100 Siena, Italy. E: florio@unisi.it
Endometriosis is defined as the presence of endometrial glands and wide variety of disorders share one or more of the clinical features of
stroma in sites outside the uterine cavity and uterine musculature. It is endometriosis. These disorders include, but are not limited to, pelvic
one of the most commonly encountered gynaecological diseases and a inflammatory disease, irritable bowel syndrome, interstitial cystitis,
significant public health issue because of the large number of women adenomyosis, ovarian neoplasms, pelvic adhesions, colon cancer and
it affects and the significant morbidity associated with this disease.
1
The diverticular disease (see Table 1). Pain is the most common symptom
most common sites of endometriosis, in decreasing order of frequency, associated with endometriosis; the other most frequent associated
are the ovaries, anterior and posterior cul-de-sac, posterior broad symptoms are dysmenorrhoea, subfertility, deep dyspareunia, cyclical
ligaments, uterosacral ligaments, uterus, fallopian tubes, sigmoid colon bowel or bladder symptoms, abnormal menstrual bleeding and
and appendix
2
and round ligaments.
3
Other less commonly involved chronic fatigue.
6
However, these symptoms are also present in other
sites include the vagina, cervix, rectovaginal septum, caecum, ileum, disorders, as well as in unaffected women,
7
so this overlap in
inguinal canals, abdominal or perineal scars, ureters, urinary bladder symptomatology often results in a diagnostic delay.
and umbilicus.
4
Although the optimal way to diagnose endometriosis is
by direct visualisation of the implant(s), histopathology is also required Nevertheless, endometriosis is most often asymptomatic, being
to make a definitive diagnosis of endometrioma.
5
Therefore, efforts to incidentally discovered at laparoscopy or laparotomy, since women
develop a non-invasive method of diagnosing endometriosis have with extensive endometriosis may have little or no pain symptoms and
focused on patient-reported symptoms, imaging techniques and come to the attention of physicians because of associated infertility or
biomarkers. This article will summarise the non-invasive tools that are as an incidental finding. Conversely, women with only minimal or mild
useful in assessing the probability of being affected by endometriosis. involvement may manifest with disabling pelvic pain (see Table 2). This
paradox may be explained by the hypothesis that symptoms are more
Signs and Symptoms related to a local peritoneal inflammatory reaction than to the volume
Multiple studies have looked at the possible association between of the implants. Indeed, pelvic pain from endometriosis has been
symptoms and signs of endometriosis and either location or type of attributed to active bleeding, production of substances (e.g. cytokines,
implant. However, it must be taken into account that the symptoms growth factors) by cells associated with endometriotic implants and
of endometriosis are non-specific, often overlapping with those irritation of the pelvic nerves by endometriosis.
8
experienced in a range of gynaecological, gastrointestinal and other
conditions (see Table 1); therefore, the process of reaching a diagnosis Dysmenorrhoea is most often associated with endometriosis if it is
of endometriosis on the basis of symptoms is often delayed. Indeed, a severe and unresponsive to non-steroidal anti-inflammatory agents
8 © TOUCH BRIEFINGS 2009
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