Colitis cystica profunda: a systematic review.

Abstract

Colitis cystica profunda (CCP) is an uncommon, benign colorectal lesion that can mimic malignancy. We conducted a systematic review of histologically confirmed CCP case reports and series to define epidemiology, presentation, diagnostic yield, management, and outcomes. Following PRISMA 2020, Embase, PubMed/MEDLINE, Web of Science, and CINAHL were searched (1965-2025); two reviewers independently screened studies and extracted demographic, clinical, imaging, histologic, treatment, and outcome data. Sixty-five studies (92 patients) met criteria. Mean age was 40 ± 12 years (median 39), and 54% were male. Rectal bleeding (70%), mucus discharge (32%), diarrhea (24%), and abdominal/rectal pain (26%) were most common; 12% were asymptomatic. Lesions were predominantly distal (rectum 61%), and superficial biopsies reached the submucosa in only 32%, contributing to frequent sampling error; Endoscopic ultrasound (EUS) and cross-sectional imaging typically showed submucosal cystic lesions with intact muscularis propria. Conservative and medical therapy were each attempted in 16% of patients, endoscopic resection in 14%, and surgery in 67%, most commonly local transanal/perineal excision (40% of surgeries) or segmental/partial colectomy (32% of surgeries). Dysplasia was reported in 10% and coexisting invasive adenocarcinoma in 4% at diagnosis; no subsequent malignant transformation was reported over a median follow-up of 8.4 months. Post-operative morbidity occurred in 5% and recurrence in 4%. CCP is a rare but important mimic of colorectal cancer; diagnosis is optimized with deep tissue sampling and high-resolution imaging. When feasible, organ-preserving endoscopic or local excision can achieve durable symptom resolution with low morbidity while avoiding unnecessary radical surgery.