A Rare Cause of Malabsorption and Weight Loss

Abstract

Purpose: Background: Celiac disease is a multifactorial disorder triggered by exposure to gluten in genetically susceptible patients and is an important cause of malabsorption. It is diagnosed by a combination of clinical features, serologic workup and duodenal biopsies showing villous atrophy and increased intra-epithelial lymphocytes. Histologic features are not specific and can be seen in a variety of conditions like food allergies,autoimmune enteropathy and giardiasis making the diagnosis challenging. We describe the case of a 50 year old white lady who presented to the GI Nutrition clinic at our Institution. She had a six month history of bulky, greasy, foul smelling stools 3-4 times per day with abdominal bloating and a 25 pound weight loss despite a caloric intake of 35 kcals/kg/day. She had a body mass index (BMI) of 16. Her other past medical history included asthma, osteoporosis, multiple past sinus infections and pneumonias. Laboratory examination showed a normal complete blood count,normal electrolytes and creatinine but a low albumin of 3.4 and low pre-albumin of 15. She had low serum IgA, IgG and IgM levels which coupled with her history of respiratory infections prompted a diagnosis of Common Variable Immunodeficiency (CVID). Stool exam showed increased quantitative stool fat but was negative for ova and parasites, PMNs, and giardia antigen. Celiac serologies were negative. An upper GI series with a small bowel followthrough showed thickened proximal small intestinal folds but no other lesions. She subsequently had an upper endoscopy with duodenal biopsies. The gross endoscopic examination was normal but biopsies showed partial crypt hyperplastic villous atrophy with a paucity of plasma cells. She was initially diagnosed with Celiac disease and started on a gluten free diet however her symptoms failed to improve despite six months of this diet. The diagnosis was subsequently revised to CVID related malabsorption and after failing a trial of prednisone she was started on total parenteral nutrition with appropriate weight gain and resolution of symptoms. Eventually she was weaned gradually off the TPN and continues to do well. Conclusion: Common variable immunodeficiency (CVID) is the second most common primary immunodeficiency syndrome (after selective IgA deficiency) characterized by a dysfunction of B-cell differentiation leading to reduced levels of IgG, IgA, and IgM levels. Though respiratory manifestations in the form of frequent infections predominate, a significant proportion of patients also develop diarrhea and malabsorption. Histopathologically a variety of features may be seen including features similar to Celiac disease, lymphocytic enterocolitis or Crohn's disease.