Victoria B. Poplaski, BA1, Xi Lei Zeng, BA1, Rama Yerramilli, BS1, Zhouwen Tang, MD2, Sarah Blutt, PhD1, Heather Danhof, PhD1, Antone Opekun, PA-C1, Noah F. Shroyer, PhD1, Robert Britton, PhD1, Mary Estes, PhD1, Richa Shukla, MD1; 1Baylor College of Medicine, Houston, TX; 2The University of Texas at Austin, Austin, TX
Introduction: Cronkhite Canada Syndrome (CCS) is a rare polyposis syndrome for which the cause remains unknown. Because the disease is so rare (1 in 1 million), no standard of care exists. The disease is most prevalent in males and has an average age of onset at 60 years of age. The case presented is unique as the patient is female and diagnosed at a younger age (38).
Methods: A 38-year-old woman of Asian (Laotian) descent presented in the gastroenterology clinic with fatigue, dizziness, alopecia, dysgeusia, and weight loss. Physical exam revealed onychodystrophy and hyperpigmentation of her face and hands. Laboratory testing confirmed iron deficiency anemia with hypoproteinemia and hypoalbuminemia. Anti-gliadin antibodies were negative. A computed tomography scan of her abdomen revealed no significant abnormalities. Endoscopy revealed dozens of erythematous pedunculated polyps in the stomach, duodenum, and ileum while the colon had close to a dozen large pedunculated polyps. Pathology noted no adenomas or dysplasias. However, pathology did note edema, chronic and acute inflammation and prominent eosinophil content. A diagnosis of CCS was made. In order to assess for intestinal microbial changes in the patient, a stool sample was obtained to perform total 16S sequencing of the stool flora. The 16S data is being compared to healthy sex and aged-matched controls at the species level. Additionally, human intestinal organoids were generated from her stomach, duodenum, ileum, and colon biopsies using published methods. To our knowledge, this is the first time that intestinal organoids have been made from a CCS patient. The CCS organoids grow faster, are larger, and have unique morphologies compared to organoids from other healthy donors. Cell type analysis also reveals an increased number of ChgA positive enteroendocrine cells in the colon and ileum. Discussion: Despite over 50 years of CCS cases, the etiopathogenesis and optimal treatment for CCS remains unknown. Currently the patient is maintained on azathioprine (dosing is 50 mg daily) and anti-histamines. Utilization of ex vivo organoid models will be an important tool for not only understanding more about the disease, but also as a way to advance precision medicine and evaluate potential therapies for this rare disease.
Disclosures: Victoria Poplaski indicated no relevant financial relationships. Xi Lei Zeng indicated no relevant financial relationships. Rama Yerramilli indicated no relevant financial relationships. Zhouwen Tang indicated no relevant financial relationships. Sarah Blutt indicated no relevant financial relationships. Heather Danhof indicated no relevant financial relationships. Antone Opekun indicated no relevant financial relationships. Noah Shroyer indicated no relevant financial relationships. Robert Britton indicated no relevant financial relationships. Mary Estes indicated no relevant financial relationships. Richa Shukla indicated no relevant financial relationships.