title: Hypogammaglobulinemia-associated gastrointestinal disease--a case series.
abstract: Hypogammaglobulinemia, a form of primary immunodeficiency, is an uncommon condition. Gastrointestinal (GI) symptoms may be the only presentation. A series of 22 patients who presented with GI symptoms and were diagnosed with hypogammaglobulinemia is presented. Chronic diarrhea was the presentation in majority (90.9 %) of patients. Malabsorption was identified in 87.5 % of patients followed by weight loss (59.0 %), abdominal pain (27.2 %), and oral ulcers (4.5 %). The median duration of symptoms prior to diagnosis was 4 years, range being 6 months to 23 years. Evaluation revealed opportunistic infections including Giardia lamblia in 31.8 % and Cryptosporidium parvum, Isospora belli, Cytomegalovirus and Aeromonas in 4.5 % each. Serum globulins were low in all patients. Duodenal biopsy showed paucity of plasma cells in 45 %, villous atrophy in 35 % and nodular lymphoid hyperplasia in 30 % patients. Though uncommon, hypogammaglobulinemia is associated with GI disease. The possibility of a primary immunodeficiency should be considered in patients presenting with GI symptoms and low serum globulin.
authors.affiliation: Department of Gastrointestinal Sciences, Christian Medical College, Vellore, 632 004, India.
authors.forename: Laxmikant
authors.initials: L
authors.lastname: Desai
authors.forename: Reuben Thomas
authors.initials: RT
authors.lastname: Kurien
authors.forename: Ebby George
authors.initials: EG
authors.lastname: Simon
authors.forename: Amit Kumar
authors.initials: AK
authors.lastname: Dutta
authors.forename: Anjilivelil Joseph
authors.initials: AJ
authors.lastname: Joseph
authors.forename: Sudipta Dhar
authors.initials: SD
authors.lastname: Chowdhury
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis; D002648:Child; D003967:Diarrhea / Q000209:etiology; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology*; D006801:Humans; D008286:Malabsorption Syndromes / Q000209:etiology; D008297:Male; D008875:Middle Aged; D012712:Serum Globulins / Q000032:analysis; D015431:Weight Loss; D055815:Young Adult
chemical_list: D012712:Serum Globulins