—  SHORT COURSE  —

A PRACTICAL APPROACH TO GASTROINTESTINAL PATHOLOGY


COLORECTAL MUCOSAL PROLAPSE SYNDROMES

Robert E. Petras, M.D.




Introduction


Case 4 - Solitary Rectal Ulcer Syndrome
Case 4 - Solitary Rectal Ulcer Syndrome

The solitary rectal ulcer syndrome, localized colitis cystica profunda, and inflammatory cloacogenic polyp are closely allied conditions that have been linked to bowel prolapse.1-10 Affected patients often demonstrate abnormal function of the anal and pelvic floor musculature during defecation 2,11,12 that leads to rectal mucosal prolapse or even intussusception. The resulting trauma is thought to cause the clinical symptoms and the pathologic changes. The term solitary rectal ulcer syndrome is quite a misnomer because the ulcers are often multiple, there is preulcer polypoid phase, and similar lesions occur in the anal canal and sigmoid colon.1-3 Additionally, colitis cystica profunda and inflammatory cloacogenic polyp are also misnomers. Since all three conditions share a common histologic appearance, clinical presentation, clinical course, and pathogenesis, I prefer to consider them together under the heading mucosal prolapse syndromes.

Clinical Presentation
Patients with mucosal prolapse syndrome range in age form 10-83 years with the majority presenting in the third and fourth decade of life. The condition occurs more commonly in women.2 Table 1 outlines the various clinical presentations of mucosal prolapse syndrome along with their relative frequencies. All patients report difficulties in defecation. This can manifest as a constant need for laxatives 1,2 or excessive straining. Some patients claim to have spent up to 200 minutes per day straining on the toilet.13 Furthermore, a surprising number of patients admit to the use of digital manipulation, spoons, or other instruments to assist in rectal evacuation. Rectal bleeding occurs commonly and is usually reported as mild to moderate.1,8 Other common presenting symptoms include pruritus ani, abdominal or rectal pain, and intermittent bowel habits in which periods of constipation interrupt bouts of loose stools.

Diagnosis
The diagnosis of mucosal prolapse syndromes can be difficult because the history often suggests primary inflammatory or ischemic bowel disease. In addition, mucosal prolapse is often covert requiring special techniques for its demonstration.

Investigators generally agree that barium enema is not helpful in the diagnosis of mucosal prolapse syndromes.1,12,11,13 Although newer radiologic techniques such as evacuation cineproctography, and defecography often demonstrate abnormalities in these patients, the definitive diagnosis requires the demonstration of characteristic changes in the biopsy specimen.1,2,11

Ulcers, when present, typically occur on the anterior or anterolateral wall of the rectum, are irregular in shape, and often appear well demarcated. In patients without ulceration, the mucosa appears polypoid, roughened, or erythematous. Inflammatory cloacogenic polyp 4,5 involves the lower rectum and anal transition zone. The clinical impression in patients with mucosal prolapse syndromes is often incorrect and includes ulcer, Crohn's disease, nonspecific proctitis, carcinoma, or villous adenoma.9

TABLE 1

CLINICAL PRESENTATIONS OF PATIENTS
WITH THE MUCOSAL PROLAPSE SYNDROMES*

Feature
Relative Frequency
Difficulty with defecation 100%
Rectal bleeding 68 - 91%
Passage of mucus 43 - 68%
Diarrhea 19 - 27%
Pruritus ani 21%
Intermittent bowel habits 6 - 28%
Anorectal pain 9 - 24%
Abdominal cramps 12 - 16%
Constipation 12%
Feeling of rectal fullness or a sense of bearing down8%
Incomplete rectal evacuation 6%
Overt rectal prolapse 4%
Incontinence 2%


* Modified from References 1, 6-9

The characteristic histopathologic changes are found in the mucosa adjacent to the ulcers or in the polypoid areas and consist of fibromuscular obliteration of the lamina propria associated with mucosal architectural distortion often with a hyperplastic or villiform appearance.2,3,6,8,9 Inflammation is typically mild or absent and mucosal capillaries can be ectatic. Superficial erosions occasionally occur and can be associated with acute inflammation and the formation of inflammatory "pseudomembranes." On occasion, colonic glands may be misplaced into the muscularis mucosae or submucosa, a histology referred to as "localized colitis cystica profunda." Submucosal vessels may also be ectatic and hyalinized. The histology of specimens obtained from ulcerated areas appears nonspecific and usually shows fibrinopurulent debris, fibrosis, and granulation tissue.

Differential Diagnosis
Differential diagnostic considerations include mucinous adenocarcinoma, chronic ulcerative colitis, Cowden's disease, and ulcers due to ergotamine suppositories. The misplaced glands of mucosal prolapse syndrome (colitis cystica profunda) can be associated with dissecting mucous pools and can be easily mistaken for invasive mucinous adenocarcinoma. Table 2 illustrates histologic features that aid in this differential.14-16

The mucosal abnormalities of mucosal prolapse syndrome also closely mimic chronic ulcerative colitis. Knowledge of the clinical picture and recognition of the characteristic fibromuscular obliteration of the lamina propria (not usually present in inflammatory bowel disease) aid in this distinction. The histologic appearance of colorectal polyps from patients with Cowden's disease (multiple hamartoma syndrome) appears identical to mucosal prolapse syndrome.17 Mucosal prolapse syndrome and Cowden's must be separated on clinical grounds. Clinical history is also required to separate the rectal ulcers associated with the use of ergotamine suppositories from mucosal prolapse. These can be grossly and microscopically identical to mucosal prolapse syndrome.18

TABLE 2

DIFFERENTIAL FEATURES BETWEEN DISSECTING MUCUS
OF MUCOSAL PROLAPSE SYNDROME (COLITIS CYSTICA PROFUNDA) AND INVASIVE MUCINOUS ADENOCARCINOMA*

Feature
Mucosal Prolapse Syndrome (Colitis Cystica Profunda)
Invasive Mucinous Adenocarcinoma
Shape of mucous pools Rounded Irregular, infiltrating
Location of epithelium Periphery of pool Floating in pool
Configuration of epithelium Single often discontinuous layer, basal polarity of nucleiCellular piling up, complex glandular, proliferation gland in gland configuration
Cytologic features No dysplasia Atypia sometimes pronounced
Tumor desmoplasia Absent Usually present
Hemorrhage and hemosiderin depositsSometimes Usually absent
Supporting lamina propria Sometimes present Absent


* Modified from References 14-16

Treatment and Follow-up
The few studies with long-term follow up report a chronic stable appearance to the lesions.1,2,19 The majority of mucosal prolapse syndrome patients tolerate their symptoms following reassurance that they do not have cancer, the addition of fiber to the diet, and instruction to reduce straining and to avoid digital manipulation. The rare patient with severe bleeding or obstruction requires excisional therapy. Medical remedies such as Sulfasalazine, local or systemic corticosteroids and antibiotics are useless.1,2 Unusual patients with severe incapacitating symptoms have been treated by resection, diverting colostomy, or rectal prolapse repair. Results of these operations have varied and since approximately 100 different operations have been described for mucosal prolapse syndrome, comparisons are difficult.

REFERENCES

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  2. Levine DS. "Solitary" rectal ulcer syndrome: Are "solitary" rectal ulcer syndrome and "localized" colitis cystic profunda analogous syndromes caused by rectal prolapse? Gastroenterology 92:243-253, 1987.
  3. Rutter KRP, Riddell RH. The solitary ulcer syndrome of the rectum. Clin Gastroenterol 4:505-530, 1975.
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  19. Allen-Mersh TG, Henry MM, Nichols RJ. Natural history of anterior mucosal prolapse. Brit J Surg 74:679-682, 1987.