Abstract

INTRODUCTION: Adult celiac disease is an autoimmune disorder that usually presents with abdominal pain and diarrhea. We present the case of an adult man who presents with chronic diarrhea and intussusception, who was diagnosed with severe celiac disease. CASE DESCRIPTION/METHODS: 38 year old male with history of depression, presents with three months of abdominal pain and intermittent watery diarrhea, associated with thirty-pound weight loss, fatigue, nausea, diffuse joint stiffness and mild swelling, and tingling and numbness that started two weeks prior. Physical exam was remarkable for thin body habitus, hyperactive bowel sounds and diffuse abdominal tenderness with guarding. Laboratory testing was significant for microcytic anemia and INR 2.7, work up for infectious causes of diarrhea was negative. Liver and renal function tests were normal. CT of the abdomen showed fluid filled colon as well as entero-enteric intussusception of approximately 10 cm in left mid abdomen. Further investigation included tissue transglutaminase (TTG) antibodies of more than 100 U/mL and IgA 227. Colonoscopy with random biopsies was performed, pathology revealed partial villous atrophy negative for increased intraepithelial lymphocytes, suggestive of celiac disease. Patient was diagnosed with severe celiac disease, associated with multiple vitamin deficiencies secondary to malabsorption and peripheral neuropathy. Patient was managed conservatively and eventually discharged with follow up of Gastroenterology and Rheumatology practices. DISCUSSION: Intussusception is well described in patients with previously diagnosed celiac disease, in which small intestinal lymphoma or adenocarcinoma may represent the “lead point” causing the intussusception. Much rarely seen is intussusception as the presenting symptom of previously undiagnosed celiac disease, particularly in the absence of a lead point. Theories of its development include presence of flaccid, dilated small bowel, fold abnormalities, lymphadenopathies and fluid excess. Intussusception in celiac disease is often multiple, transient and repetitive, so surgical intervention should be avoided. In our case, the presence of intussusception without a lead point was suggestive of celiac disease, confirmed by serologic and histologic testing. Intussusception without a lead point should prompt investigation for celiac disease as it may represent initial presentation, in order to avoid unnecessary surgical intervention.

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