Gastrointestinal manifestations of common variable immunodeficiency

Background: Discovery of multiple gastrointestinal polyps using endoscopy indicate the presence of inherited polyposis sy, however, they can also be associated to noninherited polyposis sy, such as nodular lymphoid hyperplasia (NLH). NLH can be the manifestation of common variable immunodeficiency, a syndrome characterized by immature B lymphocytes, that recognize and proliferate in response to antigens, but fail to differentiate to become plasma cells. This abortive differentiation pattern leads to panhypogammaglobulinemia and recurrent inflammations. We present a case report illustrating gastrointestinal manifestations of common variable immunodeficiency.

Case report: A 53 old man previously misdiagnosed with Peutz-Jeghers syndrome presented with chronic diarrhea and weight loss. In his history recurrent sinopulmonary infections were also present, furthermore, laboratory results revealed panhypogammaglobulinemia. Gastroscopy and capsular endoscopy demonstrated multiple polypoid structures, 3–5mm in diameter, throughout the small intestine. Routine histologic examination of these structures determined lymphoid hyperplasia with prominent germinative centers, giardiasis, and also Helicobacter pylori inflammation. Lymphocitic colitis was observed in the sigmoid and transverse colon by colonoscopy. Other parts of the colon were unaffected by the syndrome. Since NLH predispose to development of lymphomas, capsular endoscopy was performed to exclude malignancy.

Here, we provide an illustrative case report of lymphoid hyperplasia associated to common variable immunodeficiency.