A Clinical Review of Collagenous Sprue, Refractory Celiac Disease, Ulcerative Jejunitis, and Enteropathy-Associated T-cell Lymphoma

Abstract

Celiac disease is a chronic immune-mediated enteropathy caused by gluten exposure. It affects approximately 1% of the world"s population and can present at any age with a wide range of signs and symptoms including malabsorption. Adherence to a gluten-free diet is the basis of treatment; however, a small subset of patients can develop worsening and life-threatening gastrointestinal symptoms despite gluten avoidance. Clinical worsening despite a gluten-free diet should raise concern for other conditions such as collagenous sprue or other more severe forms of celiac disease. Collagenous sprue is characterized by a subepithelial collagen band and celiac-like histologic features in the small bowel mucosa. It is unclear whether collagenous sprue falls within the celiac disease spectrum or represents a distinct entity. Refractory celiac disease is a rare form of celiac disease unresponsive to a gluten-free diet and can be subdivided into types I and II. The latter is defined by a clonal aberrant population of intraepithelial lymphocytes that accumulate lymphomagenic mutations. Refractory celiac disease type II is a premalignant condition that may exhibit ulcerative jejunitis or progress to the very aggressive enteropathy-associated T-cell lymphoma. Immunohistochemistry, flow cytometry, and T-cell receptor clonality testing aid in the diagnosis of refractory celiac disease. Treatment options include immunosuppressants, chemotherapy, and stem cell transplantation. The objective of this paper is to provide an overview of collagenous sprue, refractory celiac disease, ulcerative jejunitis, and enteropathy-associated T-cell lymphoma with a focus on presentation, pathogenesis, diagnosis, and treatment.