Joshua Kwon, MD, Daniela Fluxa, MD, Francis A. Farraye, MD, MSc, Dawn Francis, MD, MHS Mayo Clinic, Jacksonville, FL
Introduction: Cronkhite-Canada syndrome (CCS) is a rare, non-inherited condition associated with widespread gastrointestinal polyps, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It was first described in 1955 and has an estimated incidence of 1 case per million population. Here, we present a case of CCS manifested as widespread polyps throughout the gastrointestinal tract.
Case Description/Methods: A 78-year-old female recently diagnosed with irritable bowel syndrome presented to Gastroenterology for a second opinion. Her complaints included 6 months of progressive abdominal pain, reflux, loss of taste, diarrhea (up to 10 episodes daily), intermittent bright red blood per rectum, and a 15kg weight loss. Physical exam revealed onychodystrophy but no alopecia or skin hyperpigmentation. Initial lab work showed low levels of potassium, albumin, and vitamin B6. Infectious stool studies were negative. Subsequent EGD showed multiple polypoid lesions in the stomach with sparing of the esophagus. Endoscopic ultrasound showed diffuse gastric wall thickening. Histopathological examination demonstrated hyperplastic polyps and no evidence of epithelial dysplasia or carcinoma. Colonoscopy revealed diffuse areas of altered vascular, congested, nodular mucosa with innumerous polypoid lesions of varying sizes throughout the entire colon. Histopathological examination showed inflammatory and adenomatous polyps with mildly active chronic colitis. Crohns disease was considered. Capsule endoscopy demonstrated multiple polyps throughout the entire small intestine. Given the clinical history and evidence of multiple polyps throughout the gastrointestinal tract, the patient was diagnosed with CCS. She was treated with a 6-week course of high dose prednisone followed by budesonide 9 mg daily (1 open capsule, 2 closed capsules) in conjunction with intermittent courses of rifaximin with complete resolution of her symptoms. A followup EGD and colonoscopy is planned in several months.
Discussion: Due to its rarity, the etiology, pathophysiology, and optimal treatment of CCS is not well established. Diffuse polyposis and inflammation can lead to nutritional and electrolyte deficiencies as was seen in our patient’s case. Prior reports have found success in treatment with nutritional supplementation and immunosuppressive therapy, suggesting an underlying immune-mediated mechanism. Our patient had significant improvement in her symptoms with prednisone, budesonide and antibiotics.
Figure: Figure 1. Esophagogastroduodenoscopy and colonoscopy images. Figure 1A shows multiple 2-30 mm pedunculated and sessile polyps with no bleeding and no stigmata of recent bleeding in the cardia and gastric body. Figure 1B shows multiple pseudopolyps in the sigmoid colon.
Disclosures: Joshua Kwon indicated no relevant financial relationships. Daniela Fluxa indicated no relevant financial relationships. Francis Farraye indicated no relevant financial relationships. Dawn Francis indicated no relevant financial relationships.
Joshua Kwon, MD, Daniela Fluxa, MD, Francis A. Farraye, MD, MSc, Dawn Francis, MD, MHS. P1506 - Cronkhite-Canada Syndrome Manifested as Diffuse Gastrointestinal Polyps, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.