19 2 = Abstract = Clinical Pitfalls in the Diagnosis and Treatment of Solitary Rectal Ulcer Syndrome Hyun Shig Kim, M.D., Kun Wuck Kim, M.D., Won Kap

19 2 = Abstract = Clinical Pitfalls in the Diagnosis and Treatment of Solitary Rectal Ulcer Syndrome Hyun Shig Kim, M.D., Kun Wuck Kim, M.D., Won Kap Park, M.D. Kwang Real Lee, M.D., Jung Jun Yoo, M.D., Seok Won Lim, M.D. and Jong Kyun Lee, M.D. Department of Surgery, Song-Do Colorectal Hospital, Seoul, Korea Background/Aim: Solitary rectal ulcer syndrome (SRUS) is a rare disease, but it is encountered in the colorectal field. SRUS is usually associated with defecation disorders such as puborectalis dysfunction, rectal occult or overt prolapse, descending perineum syndrome, and so forth. Without knowledge about SRUS, the lesion could be easily overlooked or misdiagnosed. The histologic characteristics of SRUS are fibromuscular obliteration in the lamina propria and/or misplaced mucin-filled cysts below the muscularis mucosae, this latter condition being commonly referred to as colitis cystica profunda. However, these characteristics, even though they exist, are often missed in the initial biopsy specimens from SRUS patients, leading to misdiagnoses which cause delayed diagnosis and treatment. In spite of the incomplete histologic indications, a careful and conscientious clinician, using clinical features and characteristic endoscopic findings, would not misdiagnose SRUS lesions. In other words, the clinical features and endoscopic findings are as important as, if not more important than, the histologic findings in the diagnosis of SURS lesions. Methods: The authors reviewed and analyzed 18 recently experienced, biopsy-proven cases of SRUS with emphasis on gross classification and initial pathologic misdiagnoses. Results: The most common age groups were the 5th and the 6th decades with a mean age of 46.5. The male-to-female ratio was 1.6 1. The most common symptoms were mucous discharge and defecation difficulty. All lesions involved 1997 12 23, 1998 6 10, 3 366-144, : 100-453,, Tel: 2231-0900(#261), Fax: 2237-5335 221

222 19 2 1999 the rectum, and the lower rectum was the most common site. Four diffuse-type lesions showed an extensive involvement up to the sigmoid colon. The most common form of SRUS was the elevated type (44.4%). The ulcerated type accounted for 27.8% of the cases and the flat type, 22.2%. Circumferential involvement of the SRUS was noticed in 3 cases. In 9 cases (50%), pathologic findings missed the characteristics of SRUS and indicated one or a combination of chronic nonspecific inflammation, a chronic ulcer, an inflammatory polyp, an adenomatous polyp, pseudomembranous colitis, and adenocarcinoma. In three of these cases, a second biopsy was taken with the same results. Based on the clinician' s belief that SRUS was the cause of the lesions, all nine cases were reviewed by the pathologist and a final diagnosis of SRUS was reached. Associated disorders were hemorrhoids, rectoceles, rectal prolapse, perianal fistulas, descending perineum syndrome, and anal fissures. Among them, hemorrhoids and rectoceles were the most common disorders. Four SRUS cases were managed surgically with good results. The surgical treatment was an excision of the lesion itself and/or the correction of the associated disorders. Conclusions: The histologic characteristics of SRUS are the key to diagnosis, but sufficiently large biopsy specimens are necessary in order to obtain the correct diagnosis. However, the clinical features, including symptoms and associated disorders, plus the characteristic endoscopic findings can produce the correct diagnosis even in cases of insufficiently large biopsy samples or incomplete histologic reports. (Korean J Gastrointest Endosc 19: 221 234, 1999) Key Words: Solitary rectal ulcer syndrome, Colitis cystica profunda, Defecation disorder,. colitis cystica profunda,1) solitary ulcer of the rectum,2) syndrome of the descending perineum,3) enterogenous cyst of the rectum,4) hamartomatous inverted polyp of the rectum,5) solitary ulcer syndrome of the rectum,6) solitary rectal ulcer syndrome7). (colitis cystica profunda : CCP) (solitary rectal ulcer syndrome : SRUS). CCP, SRUS.8) CCP SRUS 6) du Boulay 9) (mucosal prolapse syndrome : MPS). CCP SRUS MPS.. SRUS,,,.

6 223 Table 1. Previousely Reported Cases in Korea Reported Associated Author Age Sex Symptoms Site Type Treatment diagnosis disorder Chang YW11) 57 M Bleeding Rectum Polypoid SRUS -- Conservative Chang YW11) 57 F Straining Constipa- Rectum Polypoid SRUS -- -- tion Chang YW11) 41 F Tenesmus Rectum Ulcerated SRUS -- -- Kim MJ12) 27 M Bleeding Recto- Ulcerated SRUS -- Resection sigmoid Kim HS13) 42 M Anal pain Rectum Ulcerated MPS Hemorrhoid Excision Bleeding Anal prolapse Kim JM14) 65 F Abdominal Hepatic Polypoid CCP Adenocarci- Right hemipain flexure noma of the colectomy Weight loss ascending Anorexia colon Kim HS15) 38 M Prolapse Rectum Polypoid CCP Rectal Excision Bleeding prolapse & G-M-T Mucous operation discharge Anal pain SRUS, Solitary rectal ulcer syndrome; MPS, Mucosal prolapse syndrome; CCP, Colitis cystica profunda; G-M-T operation, Gant-Miwa-Thiersch operation (mucosal plication plus Thiersch procedure)16,17) (spastic pelvic floor syndrome).10) 20 60 (Table 1). SRUS. Tjandra 18,19) 26%,,. SRUS. (Fig. 1),,.9) Kenney 20) SRUS. SRUS. SRUS 18. 18 (Table 2) SRUS,,,

6 225 SRUS. 2 3, 3.. 1) 40 50, 40 13 72.2%. 46.5. 1.6 1 (Table 3). 2),,, (Table 4). 3) 9 (50%). 4 S, 1 5 (Table 5). 4) Table 3. Age and Sex Distributions Age Male Female Total Percentage 10 19 1 0 1 5.6 20 29 0 1 1 5.6 30 39 1 2 3 16.7 40 49 4 1 5 27.8 50 59 2 3 5 27.8 60 69 3 0 3 16.7 Total 11 7 18 100 Symptom Table 4. Symptoms Number Percentage (N/18 100) Mucous discharge 7 38.9 Difficult defecation 7 38.9 Tenesmus 5 27.8 Bleeding 4 22.2 Abdominal pain 4 22.2 Prolapse 3 16.7 Bearing down sensation 2 11.1 Loose stool 2 11.1 Anal pain 1 5.6 Thin stool 1 5.6 Urgency 1 5.6,,, Site Table 5. Site Distribution Number Percentage (N/18 100) Descending colon* 1 5.6 Sigmoid colon* 4 22.2 Upper rectum 2 11.1 Middle rectum 2 11.1 Lower rectum 9 50.0 Entire rectum 5 27.8 * These 5 patients have rectal lesions, also. Type Table 6. Gross Classification Number Percentage (N/18 100) Elevated 8 44.4 Ulcerated 5 27.8 Flat 4 22.2 Mixed 1 5.6 Half-circumferential* 4 22.2 Circumferential* 3 16.7 * These 7 patients are included in one of four types above.

226 19 2 1999. 8 (44.4%),. 4 3 (Table 6). 5) 9 50%. 4 3.,,,. 2, 2 Table 7. Various Histologic Misdiagnoses Table 8. Disorders Associated with SRUSs Disorder Histology Number Percentage (N/18 100) Hemorrhoid* 3 16.7 Rectocele 3 16.7 Rectal prolapse 2 11.1 Perianal fistula 2 11.1 or abscess Intrarectal rectal 1 5.6 prolapse Descending perineum 1 5.6 syndrome Anal fissure 1 5.6 * These hemorrhoids were grades III and IV. Number Chronic nonspecific inflammation 4 Chronic ulcer 3 Inflammatory polyp 2 Adenomatous polyp 2 Pseudomembranous colitis 1 Adenocarcinoma 1 1 2 (Table 7). 6) 3 3 2 2.,, (Table 8). 7) 1 13 (72.2%) 3 (16.7%), 2 Gant-Miwa-Thiersch 16,17). 1 pull-through SRUS. 1 Gant-Miwa-Thiersch (Table 9). 8) (good), (fair), (poor),. 2 3. 8 (44.4%) Table 9. Treatments of SRUSs Treatment Number Percentage (N/18 100) Conservative therapy 13 72.2 Local excision 3 16.7 Gant-Miwa-Thiersch 2 11.1 operation Pull-through operation 1 5.6 One patient underwent a combination of excision and Gant-Miwa-Thiersch operation.

6 227 (Fig. 2 5), 4 (22.2%)(Fig. 6, 7) 66.6% 3 (16.7%). 3. 4 (30.8%), 4 (30.8%), 3 (23.1%) 8 (61.6%) 4 (80%). 1 pull-through (Table 10). Table 10. Results of Treatments Conservative Operative Result Total (%) treatment (%) treatment (%) Good 4 (30.8) 4 (80) 8 (44.4) Fair 4 (30.8) 0 4 (22.2) Poor 3 (23.1) 0 3 (16.7) Unknown 2 (15.4) 1 (20) 3 (16.7) Total 13 (100) 5 (100) 18 (100) Good, Markedly improved symptoms and almost healed lesions; Fair, Symptoms improved to some extent and lesions showed an improved pattern; Poor, No improvement in symptoms and lesions; Unknown, Lost during follow-up or no visit after diagnosis or operation; Followup period, 2 months to 3 years. 19 21) Madigan22) solitary ulcer of the rectum' Madigan Morson2) 68. Madigan. Rutter Riddell6). `solitary ulcer syndrome of the rectum'. 1983 du Boulay 9),,, transitional mucosa, hamartomatous inverted polyp, colitis cystica profunda, inflammatory cloacogenic polyp (mucosal prolapse syndrome : MPS).,,. SRUS,,, autoeroticism, ergotamine.7,10,23) Thomson Hill24) SURS self-digitation. SRUS,.8)

228 19 2 1999..8,25).,.6,25) Snooks26) SRUS 50% Jones 27) 50%..25),,,.8) 20.28) 50 70.25) Britto 29) 50 60%. Madigan2) Levine30) Rutter 6). 1.6 1 40 13 (72.2%) Britto. Levine30) 47 Tjandra 18) 48.7 46.5.. 2,8,9),,...31) 40%.,,. SRUS.8,9) 6) Rutter Riddell6) 68% 14%. Madigan Morson2) 47% 15%...25) 61% 4 S 1. Wayte Helwig1) CCP Herman 32),, 5. SRUS CCP. 33) 64 CCP 34) 73 S MPS MPS. Kim 14) CCP..

6 229. Tjandra 18) ulcerated, polypoid, hyperemic 3 35),,,. (circumferential), (half-circumferential).9,10,18,36). (Fig. 1).,,, (Fig. 4).8,9,36).., 33,37) (lobulated) (Fig. 2, 6). CCP. (Fig. 8).. Tjandra 18) 80 29%, 44%, 27% 5%. Madigan Morson2) 5.5% Kuijpers 10) 63%, 37% 3%. 8 75%, 23%, 2%.38) SRUS (Table 1). 44.4% 27.8%. 22.2% (Fig. 8) 1. 3 (16.7%). 4 (22.2%). SRUS.... Snooks 26) (manometry) SRUS 50% Jones 27) 50%. Rutter Riddell6). Keighley Shouler39) 25%. Kuijpers 10) 19 SRUS 12

230 19 2 1999, 5, 1 SRUS SRUS. Goei 40) SRUS Tjandra 18).. 3 1 1. Womack 41,42) SRUS. 80%.. Goei 43), (granularity) 60% Madigan Morson2) SRUS 63%. Levine 30) 50% SRUS SRUS. Britto 29) 54%. SRUS.,,,.6,9) CCP... Madigan Morson2) 68 SRUS 51 (75%) 30 (44%). 44%. 59%. SRUS. Kennedy 20) 45 42%. Cleveland clinic Tjandra 19) 98 SRUS, 25 (26%). 23 13, SRUS 10. Madigan Morson2). Tjandra,,.,, SRUS 5. 30.,,,, Peutz-Jeghers, (angiodysplasia),

6 231,,. Britto 29) 20 SRUS 1 25%, 2 35%, 3 40%... 50% Madigan Tjandra 4, 3, 2, 2, 1, 1,. 3 2. SRUS. 44),,,,,, SRUS., SRUS SRUS.6,9,23,45,46), SRUS. SRUS.47),,,,, SRUS. SRUS. SRUS 48).8) SRUS.,,...8,25).. 12 24.49), 5 Fig. 9. A markedly dilated colon caused by an obstruction due to an SRUS lesion in a 56-year-old female patient.

232 19 2 1999.47,49) 47) 71% 13, 62% 23% 1 (Fig. 9)., CCP,.47), (mucosal sleeve resection).50,51) 3. SRUS SRUS..45) Nicholls Simson23) (85.7%). Gant-Miwa 47,49) 2 Gant-Miwa Thiersch. Christiansen 46). SRUS 8) Tjandra 18). 18). SRUS,..,,, SRUS. SRUS. 1) Wayte DM, Helwig EB: Colitis cystica profunda. Am J Clin Pathol 48: 159, 1967 2) Madigan MR, Morson BC: Solitary ulcer of the rectum. Gut 10: 871, 1969 3) Parks AG, Porter NH, Hardcastle J: The syndrome of the descending perineum. Proc R Soc Med 59: 477, 1966 4) Talerman A: Enterogenous cysts of the rectum (colitis cystica profunda). Br J Surg 58: 643, 1971 5) Allen MS Jr: Hamartomatous inverted polyps of the rectum. Cancer 19: 257, 1966 6) Rutter KRP, Riddell RH: The solitary ulcer syndrome of the rectum. Clin Gastroenterol 4: 505, 1975 7) Levine DS: Solitary rectal ulcer syndrome. Are solitary rectal ulcer syndrome and localized colitis cystica profunda analogous syndromes caused by rectal prolapse? Gastroenterology 92: 243, 1987 8) Gordon PH: Solitary ulcer syndrome of rectum. In: Gordon PH, Nivatvongs S, eds. Principles and practice of surgery for the colon, rectum, and anus. p1059, St. Louis, Quality Medical Publishing Inc, 1992 9) du Boulay CEH, Fairbrother J, Isaacson PG: Mucosal prolapse syndrome- a unifying concept for solitary ulcer syndrome and related disorders. J Clin Pathol 36: 1264, 1983

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234 19 2 1999 42) Womack NR, Williams NS, Holmfield Mist JH, Morrison JF: Pressure and prolapse-the cause of solitary rectal ulceration. Gut 28: 1228, 1987 43) Goei R, Baeten C, Arends JW: Solitary rectal ulcer syndrome: findings at barium enema study and defecography. Radiology 168: 303, 1988 44) :. 48: 365, 1995 45) Schweiger M, Alexander-Williams J: Solitary ulcer syndrome of the rectum: its association with occult rectal prolapse, The Lancet, January 22, 1977 46) Christiansen J, Zhu BW, Rasmussen OØ, Sørensen M: Internal rectal intussusception: Results of surgical repair. Dis Colon Rectum 35: 1026, 1992 47),,,, : : 42: 994, 1989 48) Rutter KRP: Solitary ulcer syndrome of the rectum; Its relation to mucosal prolapse. In: Henry MM, Swash M, eds. Coloproctology and the pelvic floor. Pathophysiology and management. p282, London; Butterworth, 1985 49),,,,,,,,,, :. 55: 32, 1993 50) Earnest DL, Schneiderman DJ: Other diseases of the colon and rectum. In: Sleisenger MH, Fordtran JS, eds. Gastrointestinal disease. 4th ed, p1603, Philadelphia, W.B. Saunders Co., 1989 51) Guy PJ, Hall M: Colitis cystica profunda of the rectum treated by mucosal sleeve resection and colo-anal pull-through. Br J Surg 75: 289, 1988 Fig. 1. A typical ulcerated-type SRUS lesion in the rectum of a 42-year-old-male patient. The ulcer is shallow and well-demarcated. The base of the ulcer is covered with a grayish-white slough. The ulcer margin is irregular with raised and rolled edges. Fig. 2. An elevated-type SRUS lesion in the rectum of a 40-year-old female patient. The initial histology indicated an adenomatous polyp and pseudomembranous colitis. Fig. 3. A picture of the Fig. 2 patient, showing a markedly improved state after 6 months of conservative treatment. The lesion was almost healed. Fig. 4. An ulcerated-type SRUS lesion in a 37-year-old female patient. The initial biopsy indicated a chronic nonspecific colitis and an inflammatory polyp. Fig. 5. The markedly improved state of the Fig. 4 patient after one year of conservative treatment. The ulcer was healed. Fig. 6. An elevated-type SRUS lesion in a 14-year-old male patient, showing a hyperemic, edematous, and protruded lesion in the lower rectum. The initial biopsy indicated a chronic nonspecific inflammation and an inflammatory polyp. Fig. 7. A picture of the Fig. 6 patient, showing an improved pattern after 3 years of conservative treatment. Only hyperemia remains. Fig. 8. A flat-type SRUS lesion in the lower rectum of a 32-year-old female patient. 247