An Unusual Case of Refractory Celiac Disease

Abstract

Purpose: Case Presentation: This is a 73-year-old male with an underlying history of celiac disease presenting to this institution for introduction of Total Parenteral Nutrition (TPN) as scheduled by his gastroenterologist. His celiac disease was definitively diagnosed 3 years prior to admission by duodenal biopsy. His enomysial antibody 8 years prior to this admit had a ratio of greater than 1:160 and his antigliadin IgA/IgG antibody from earlier this year was elevated at 124/112, respectively. Over the last several months prior to admission, he has been having worsening intermittent episodes of diarrhea, several times a day, and nausea. He has been following a gluten free diet since his diagnosis several years ago. Over the last year and a half, he has lost over 40 lbs. His gastroenterologist did work up his diarrhea prior to admit. A small bowel series was unremarkable, EGD showed scalloping of the duodenal folds, colonoscopy showed flattened villi in the terminal ileum. His admission to the hospital for initiation of TPN as requested by gastroenterology was felt warranted due to his poor nutritional status and degree of refractory celiac disease. A PET scan was arranged prior to discharge for an outpatient work-up for the possibility of a malignancy due to his increase risk from his underlying refractory celiac disease. Discussion: A gluten-free diet is the only accepted treatment of celiac disease. However, a significant number of patients, reported in some studies to be as high as 30%, will not respond to a gluten free diet. Patients with refractory celiac disease are one group of patients unresponsive to dietary modification. Before diagnosing refractory celiac disease, continued gluten ingestion and other diagnoses with similar clinical manifestations must be ruled out. Most patients do not have detectable levels of celiac associated antibodies while they follow a gluten free diet, but elevated antibody titers do not necessarily mean the patient is non-compliant. This point is illustrated in our patient - despite carefully following a confirmed gluten free diet, anti-gliadin antibody titers remained elevated. After diagnosis, refractory celiac disease can be further categorized into type 1 and type 2 with examination of intraepithelial lymphocytes in the small bowel. This classification has prognostic implications since type 2 has been associated with gastrointestinal lymphoproliferative malignancies. Instead of examining the patient's lymphocytes, we chose instead to order a PET scan. Treatment of refractory celiac disease remains a challenge and descriptions of therapeutic regimens have been limited to case reports and observational studies.