Diagnosis and clinical presentation of endometriosis G. David Adamson, MD Palo Alto, California Despite advances in diagnostic techniques, endometriosis remains an enigmatic condition. Clinical symptoms and signs often do not correlate with the anatomic stage of the disease, and morphologic characteristics vary widely. A definitive diagnosis can be established only by direct visualization, usually by laparoscopy. In some cases biopsy may be necessary to confirm the presence of disease. (AM J OSSTET GVNECOL 1990;162:568-9.)
Key words: Endometriosis, laparoscopy
For decades endometriosis has been an enigmatic condition, but our understanding of its clinical presentation and diagnosis is gradually improving. Data have revealed that the most frequent sites of endometriotic involvement are the posterior cul-de-sac, ovaries, bladder serosa, fallopian tubes, and large bowel. Less commonly, the small bowel, vagina, ureter, or appendix may be involved. Infrequent sites of endometriosis are the umbilicus, inguinal areas, diaphragm, vulva, skin, episiotomy, and pleura. Rarely the disease may be seen in the stomach, lung, or kidney.
Symptoms and signs The major symptoms associated with the disease are dysmenorrhea and pelvic pain. The latter symptom may be aching and centrally located but can also be lateralized in the presence of endometriomata. Dyspareunia (often with postcoital discomfort) is also common, and pain may occur on defecation when bowel involvement is present. Menstrual irregularities may occur as well. In addition , infertility is one of the most frequent initial complaints encountered in general clinical practice in patients with endometriosis. On pelvic examination, signs of endometriosis include cul-de-sac nodularity, pelvic tenderness, and pelvic induration. Adnexal masses may be identified in patients who have extensive involvement of the broad ligament and cul-de-sac, and fixed retroversion is also possible. Diagnostic techniques The differential diagnosis of endometriosis includes pelvic inflammatory disease, adenomyosis, and benign adnexal masses. Malignancy is an uncommon but im-
From the Department of Gynecology and Obstetrics, Stanford University School of Medicine . Reprint requests: G. David Adamson, M D, Department of Gynecology and Obstetrics, Stanford University S chool of Medicine, 540 Umversity Ave., Suite 200, Palo Alto, C A 94301 .
6/0/16867 568
portant clinical consideration. Psychologic factors , which can affect symptoms of pain, must be considered as well. Diagnosis of the disorder primarily requires direct visualization of endometriotic lesions, with biopsy reserved for cases in which the diagnosis is in doubt. At laparoscopy a systematic and thorough review of the pelvic cavity must be performed. In particular the ovaries must be elevated so that the undersurface of the ovaries and upper aspects of the broad ligament can be viewed clearly. The laparoscope aids diagnosis by magnifying lesions several times their actual size. Video recording equipment can be valuable in documenting the findings for subsequent patient care. In addition to direct visualization, ultrasonography may facilitate diagnosis of the disease when endometriomata are present. On the other hand the use of computed tomography or magnetic resonance imaging is still experimental and not indicated routinely. Another technique involves assessment of serum levels of cancer antigen-125, which is shed into the circulation from endometriotic and other tissues. Levels of cancer antigen-125 have been found to increase with the anatomic stage of the disease . This diagnostic technique lacks specificity, however, because serum levels of cancer antigen-125 are also increased in the presence of other pelvic conditions, including pelvic inflammatory disease, unexplained infertility, pregnancy, menses , leiomyomata, and malignancy. The optimal applications of measurement of cancer antigen-125 in the diagnosis of endometrosis remain to be established.
CharacteristIcs of lesIons More than 60 years ago, Sampson'" described pelvic endometriosis by using terms such as red raspberries, purple raspberries, blueberries, blebs, and peritoneal pockets. Subsequent publications focused on typical lesions that were described as having the appearance of dark powder burns or blueberries. Only recently have observers gained an appreciation for the changes in coloration of endometriosis that occur during the men-
Volume 162 Number 2
strual cycle, as well as the generally invasive nature and multiple morphologic presentations associated with the disease. Studies that use scanning electron microscopy have revealed that many lesions do not fit the classic description. Specifically, endometriosis may appear as whitish scar tissue, vesicular, or strawberry colored, in addition to the more familiar manifestations. In fact the metabolic activity of the disease seems to be greatest in reddish lesions, so the more subtle endometriotic implants may actually be the most important with regard to successful management of the condition. On the other hand, lesions associated with hemangiomas, old sutures, necrotic areas from ectopic pregnancies, cancer cells, epithelial inclusions, residual carbon from previous laser surgery, hysterosalpingogram dye reactions, and inflammatory cysts may be mistaken for endometriosis. The excisional techniques pioneered by Martin et al. t 5 have vastly improved our understanding of endometriosis. Puckered black lesions are the easiest to see and are well recognized by most gynecologists; the presence of such lesions can be documented by excisional biopsy. The classic endometriotic lesion has a diffuse mixture of glands, stroma, intraluminal debris, and fibromuscular scarring. Scarred white lesions, in which the stroma is sparse and the glands are surrounded by fibromuscular scar, are much more difficult to visualize and may be confused with fibrotic tissue from previous inflammatory disease or postoperative scarring. Strawberry-like reddish areas are often associated with scarred areas of endometriosis. These lesions frequently appear around deeper. invasive areas of endometriosis and may represent extensions of these deep layers into the upper layer. Reddish polyps by themselves are predominantly glands and stroma and are not commonly associated with scarring. These polyps range from < I to 7 mm in diameter and sometimes appear as blue-black or yellow rather than red . Another common presentation involves peritoneal pockets, which may appear developmental but are frequently associated with endometriosis. Many patients have clear, vesicular lesions, which can be difficult for even the most experienced laparoscopist to visualize. The bright light of the video camera can obscure these lesions, and the angle at which the peritoneal surface is viewed often must be changed if such lesions are to be identified. Some of these lesions involve both glands and stroma, whereas others may be edematous endometriotic polyps.
Diagnosis and clinical presentation of endometriosis
569
Diffuse infiltration of the broad ligament is more prevalent than was once appreciated. Endometriosis and red adhesions may be seen over an entire area, from the uterosacral ligaments up toward the ovary and fallopian tube. Blackish. as well as reddish, areas of disease al'e readily apparent. and some scarred areas are evident. Surgical treatment of this condition requires excision of the entire broad ligament. Endometriosis can also be deeply infiltrating. The lesion can appear just superficial to the untrained eye, but removal of the disease actually may require dissection of the entire base of the uterosacral ligament, as well as dissection of the recto vaginal area of the septum to a depth of 7 mm. On the ovary, endometriosis may begin as a superficial lesion (similar to that found on peritoneal surfaces) , a strawberry-type lesion, or the more classic bluish. puckered area overlying an endometrioma. Appropriate diagnosis of such a lesion requires dissection of a cyst wall for pathologic confirmation of the presence of disease. Comment
In many respects endometriosis remains an enigma from the most basic clinical standpoint, that is, establishment of the diagnosis. Patients have variable symptoms and signs that do not necessarily correlate with the anatomic stage of the disease, and not all of the multiple morphologic characteristics will be appreciated by the practicing clinician . Unequivocal diagnosis of endometriosis requires direct visualization by laparoscopy. Because this is a surgical procedure, it may not be performed on all women suspected of having the disease. and even among patients who undergo laparoscopy biopsy may be necessary to confirm the presence of endometriosis. REFERENCES I. Sampson J A. Perforating hemorrhagic (chocolate) cysts of
the ovary. Arch Surg 1921 ;3 :245. 2. Sampson JA. Benign and malignant endometrial implants in the peritoneal cavity and their relationship to certain ovarian tumors. Surg Gynecol Obstet 1924:38:287. 3. Sampson JA. Peritoneal endometriosis due to dissemination of endometrial tissue into the peritoneal cavity. AM J OBST ET GYNECOL 1927;14:422. 4. Martin DC. Diamond MP. Operative laparoscopy: comparison of lasers with other techniques. Curr Probl Obstet Gynecol Ferti! 1986;9:564. 5. Martin DC. Vander Zwaag R. Excisional techniques with the CO 2 laser laparoscope. J Reprod Med 1987;32:753.
Key words: Endometriosis, laparoscopy
For decades endometriosis has been an enigmatic condition, but our understanding of its clinical presentation and diagnosis is gradually improving. Data have revealed that the most frequent sites of endometriotic involvement are the posterior cul-de-sac, ovaries, bladder serosa, fallopian tubes, and large bowel. Less commonly, the small bowel, vagina, ureter, or appendix may be involved. Infrequent sites of endometriosis are the umbilicus, inguinal areas, diaphragm, vulva, skin, episiotomy, and pleura. Rarely the disease may be seen in the stomach, lung, or kidney.
Symptoms and signs The major symptoms associated with the disease are dysmenorrhea and pelvic pain. The latter symptom may be aching and centrally located but can also be lateralized in the presence of endometriomata. Dyspareunia (often with postcoital discomfort) is also common, and pain may occur on defecation when bowel involvement is present. Menstrual irregularities may occur as well. In addition , infertility is one of the most frequent initial complaints encountered in general clinical practice in patients with endometriosis. On pelvic examination, signs of endometriosis include cul-de-sac nodularity, pelvic tenderness, and pelvic induration. Adnexal masses may be identified in patients who have extensive involvement of the broad ligament and cul-de-sac, and fixed retroversion is also possible. Diagnostic techniques The differential diagnosis of endometriosis includes pelvic inflammatory disease, adenomyosis, and benign adnexal masses. Malignancy is an uncommon but im-
From the Department of Gynecology and Obstetrics, Stanford University School of Medicine . Reprint requests: G. David Adamson, M D, Department of Gynecology and Obstetrics, Stanford University S chool of Medicine, 540 Umversity Ave., Suite 200, Palo Alto, C A 94301 .
6/0/16867 568
portant clinical consideration. Psychologic factors , which can affect symptoms of pain, must be considered as well. Diagnosis of the disorder primarily requires direct visualization of endometriotic lesions, with biopsy reserved for cases in which the diagnosis is in doubt. At laparoscopy a systematic and thorough review of the pelvic cavity must be performed. In particular the ovaries must be elevated so that the undersurface of the ovaries and upper aspects of the broad ligament can be viewed clearly. The laparoscope aids diagnosis by magnifying lesions several times their actual size. Video recording equipment can be valuable in documenting the findings for subsequent patient care. In addition to direct visualization, ultrasonography may facilitate diagnosis of the disease when endometriomata are present. On the other hand the use of computed tomography or magnetic resonance imaging is still experimental and not indicated routinely. Another technique involves assessment of serum levels of cancer antigen-125, which is shed into the circulation from endometriotic and other tissues. Levels of cancer antigen-125 have been found to increase with the anatomic stage of the disease . This diagnostic technique lacks specificity, however, because serum levels of cancer antigen-125 are also increased in the presence of other pelvic conditions, including pelvic inflammatory disease, unexplained infertility, pregnancy, menses , leiomyomata, and malignancy. The optimal applications of measurement of cancer antigen-125 in the diagnosis of endometrosis remain to be established.
CharacteristIcs of lesIons More than 60 years ago, Sampson'" described pelvic endometriosis by using terms such as red raspberries, purple raspberries, blueberries, blebs, and peritoneal pockets. Subsequent publications focused on typical lesions that were described as having the appearance of dark powder burns or blueberries. Only recently have observers gained an appreciation for the changes in coloration of endometriosis that occur during the men-
Volume 162 Number 2
strual cycle, as well as the generally invasive nature and multiple morphologic presentations associated with the disease. Studies that use scanning electron microscopy have revealed that many lesions do not fit the classic description. Specifically, endometriosis may appear as whitish scar tissue, vesicular, or strawberry colored, in addition to the more familiar manifestations. In fact the metabolic activity of the disease seems to be greatest in reddish lesions, so the more subtle endometriotic implants may actually be the most important with regard to successful management of the condition. On the other hand, lesions associated with hemangiomas, old sutures, necrotic areas from ectopic pregnancies, cancer cells, epithelial inclusions, residual carbon from previous laser surgery, hysterosalpingogram dye reactions, and inflammatory cysts may be mistaken for endometriosis. The excisional techniques pioneered by Martin et al. t 5 have vastly improved our understanding of endometriosis. Puckered black lesions are the easiest to see and are well recognized by most gynecologists; the presence of such lesions can be documented by excisional biopsy. The classic endometriotic lesion has a diffuse mixture of glands, stroma, intraluminal debris, and fibromuscular scarring. Scarred white lesions, in which the stroma is sparse and the glands are surrounded by fibromuscular scar, are much more difficult to visualize and may be confused with fibrotic tissue from previous inflammatory disease or postoperative scarring. Strawberry-like reddish areas are often associated with scarred areas of endometriosis. These lesions frequently appear around deeper. invasive areas of endometriosis and may represent extensions of these deep layers into the upper layer. Reddish polyps by themselves are predominantly glands and stroma and are not commonly associated with scarring. These polyps range from < I to 7 mm in diameter and sometimes appear as blue-black or yellow rather than red . Another common presentation involves peritoneal pockets, which may appear developmental but are frequently associated with endometriosis. Many patients have clear, vesicular lesions, which can be difficult for even the most experienced laparoscopist to visualize. The bright light of the video camera can obscure these lesions, and the angle at which the peritoneal surface is viewed often must be changed if such lesions are to be identified. Some of these lesions involve both glands and stroma, whereas others may be edematous endometriotic polyps.
Diagnosis and clinical presentation of endometriosis
569
Diffuse infiltration of the broad ligament is more prevalent than was once appreciated. Endometriosis and red adhesions may be seen over an entire area, from the uterosacral ligaments up toward the ovary and fallopian tube. Blackish. as well as reddish, areas of disease al'e readily apparent. and some scarred areas are evident. Surgical treatment of this condition requires excision of the entire broad ligament. Endometriosis can also be deeply infiltrating. The lesion can appear just superficial to the untrained eye, but removal of the disease actually may require dissection of the entire base of the uterosacral ligament, as well as dissection of the recto vaginal area of the septum to a depth of 7 mm. On the ovary, endometriosis may begin as a superficial lesion (similar to that found on peritoneal surfaces) , a strawberry-type lesion, or the more classic bluish. puckered area overlying an endometrioma. Appropriate diagnosis of such a lesion requires dissection of a cyst wall for pathologic confirmation of the presence of disease. Comment
In many respects endometriosis remains an enigma from the most basic clinical standpoint, that is, establishment of the diagnosis. Patients have variable symptoms and signs that do not necessarily correlate with the anatomic stage of the disease, and not all of the multiple morphologic characteristics will be appreciated by the practicing clinician . Unequivocal diagnosis of endometriosis requires direct visualization by laparoscopy. Because this is a surgical procedure, it may not be performed on all women suspected of having the disease. and even among patients who undergo laparoscopy biopsy may be necessary to confirm the presence of endometriosis. REFERENCES I. Sampson J A. Perforating hemorrhagic (chocolate) cysts of
the ovary. Arch Surg 1921 ;3 :245. 2. Sampson JA. Benign and malignant endometrial implants in the peritoneal cavity and their relationship to certain ovarian tumors. Surg Gynecol Obstet 1924:38:287. 3. Sampson JA. Peritoneal endometriosis due to dissemination of endometrial tissue into the peritoneal cavity. AM J OBST ET GYNECOL 1927;14:422. 4. Martin DC. Diamond MP. Operative laparoscopy: comparison of lasers with other techniques. Curr Probl Obstet Gynecol Ferti! 1986;9:564. 5. Martin DC. Vander Zwaag R. Excisional techniques with the CO 2 laser laparoscope. J Reprod Med 1987;32:753.
