From Rarity to Recognition: A Case Report of Cronkhite-Canada Syndrome

Document Type

Conference Proceeding

Publication Date

10-25-2023

Publication Title

Am J Gastroenterol

Abstract

Introduction: Cronkhite-Canada Syndrome (CCS) is a rare, non-hereditary disorder characterized by hamatomatous polyposis in the entire GI tract (excluding the esophagus) with alopecia, skin hyperpigmentation, nail dystrophy, abdominal pain, and malabsorption. It is associated with a 5-year mortality up to 55% with no specific reliably effective treatment. Case Description/Methods: A 50-year-old man presented with 7 months of abdominal pain, diarrhea, and pitting with loss of fingernails and toenails. He underwent EGD and colonoscopy which showed numerous polyps in the stomach and colon, initially raising concern for familial adenomatous polyposis. Pathology showed tubular adenoma and inflammatory polyp. Since then, his condition worsened clinically and radiographically until admission in February 2023 for protein-losing enteropathy with anasarca requiring total parenteral nutrition. Repeat upper and lower endoscopy again revealed innumerable polyps in the stomach and colon, with polyp and background mucosa pathology showing hamartomatous and various histological changes of CCS. He underwent genetic testing in March 2023 to exclude genetic syndromes. Unfortunately, his course has been complicated by repeated admissions namely for recurrent Clostridioides difficile infection despite adequate treatment. He has been started on oral prednisone, underwent a bezlotuxomab infusion, and is currently being considered for total colectomy, with possible additional immunosuppression if unresponsive to steroids, once medically stable. Discussion: CCS was first described in 1955 by Cronkhite Jr and Canada. Most cases occur in patients above 50. The exact cause is believed to be multifactorial, with possible autoimmune or inflammatory component due to increased inflammatory markers and identification of non-definitive immune abnormalities. Diagnosis is made with consistent clinical picture, endoscopic findings, and histopathology revealing cystically dilated glands, edematous stroma, and minimal inflammation. Major causes of death include gastrointestinal bleeding, sepsis, and congestive heart failure. Although there is no proven effective treatment, therapy usually consists of nutritional support, steroids, and immunosuppression. Although often non-neoplastic, rare cases of malignant transformation have been reported. Our patient illustrates the need for additional studies investigating the underlying pathophysiology and appropriate management for CCS.

Volume

118

Issue

10

First Page

S1973

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