A Rare Case of Cronkhite-Canada Syndrome

Abstract

Introduction: Cronkhite-Canada Syndrome (CCS) is a rare non-hereditary polyposis condition with unclear etiology. Estimated incidence is 1 case per million population. Symptoms include diarrhea, anorexia, and weight loss. Dermatologic changes are alopecia, onychodystrophy, and cutaneous hyperpigmentation. Classic endoscopic features include diffuse polyposis which spares the esophagus. Case: 71 yo M with irritable bowel syndrome, diabetes, atrial fibrillation on warfarin presented with abdominal pain, constipation and diarrhea. Gastroscopy and colonoscopy revealed inactive gastritis and two diminutive adenomatous polyps; no microscopic colitis. Over the course of five months diarrhea worsened, he developed dysgeusia and anorexia with a 25 lb weight loss. Exam: hair loss and dystrophic fingernails (Fig 1). Labs: low ferritin, hemoglobin, protein, and albumin. Stool guaic positive. Repeat EGD showed many antral polyps (Fig 2); histology: foveolar hyperplasia and chronic gastritis. Repeat colonoscopy showed many polyps throughout the colon (Fig 3) and terminal ileum; histology: chronic lamina propria inflammation and cystically dilated crypts and glands. Patient diagnosed with CCS. Weight improving on dietary supplements; symptoms are controlled with loperamide and simethicone. He declines steroids.FigureFigureFigureDiscussion: Hallmark features of CCS include diffuse polyps which are usually inflammatory, hyperplastic or juvenile but can be adenomatous. Histology is often non-specific and includes mixed inflammation, expanded lamina propia, cystic dilation of glands and crypts, and villous atrophy. Our patient had no signs of polyposis on recent EGD or nail changes on prior exams. Over 1 year, he developed non-specific symptoms that were unified by diffuse polyposis seen on repeat endoscopy. His disease onset is similar to the relatively acute onset described in the literature. Complications include malabsorption, gastrointestinal bleeding, small bowel obstruction, congestive heart failure, and sepsis. CCS has an increased risk of colon cancer. It is unclear if this relates to pre-existing polyps or is sporadic. Nutrition supplementation is crucial in therapy. Glucocorticoids are the most effective current therapy. Polyp sampling has been advocated for cancer prevention. It is important to be aware of this constellation of symptoms and to refer for endoscopic evaluation. Early diagnosis is key as this rare disease is progressive and confers significant mortality.