The Enteropathy Associated with Common Variable Immunoglobulin Deficiency: A Report of 2 Cases: 2054

Introduction: Common variable immunoglobulin deficiency (CVID) stems from defective B cell differentiation leading to reduced immunoglobulins. The term variable is used to describe the many different phenotypic expressions. The GI tract is often involved and villous atrophy and malabsorption may be confused with other enteropathies, especially celiac disease leading to a delayed diagnosis and treatment with increased morbidity. Case 1: 24 year-old female with a 3-year weight loss of 10-20%, frequent respiratory infections, diarrhea, bloating, and dysphagia presented for a second opinion. She had prior hospitalization for dehydration and malnutrition resulting in TPN administration. Medical history Hypovitminosis D Hypothyroidism Physical exam and laboratory finding \ Thin Absent IgG and A SIBO intolerance to lactose and fructose Zinc deficiency Endoscopy Prox. esophageal stricture Duodenal atrophy Histology Esophageal histoplasmosis Marked duodenal lymphocytosis and plasmocytopenia Case 2: 46-year-old male with 40-lb weight loss over 18 months, lethargy, and fatigue presented for a 3rd opinion. Endoscopy at outside institution revealed marked atrophy of the duodenal mucosa and a pathology report showed villous atrophy leading to a diagnosis of celiac sprue. Colonic biopsies revealed lymphocytosis but not consistent with lymphocytic colitis. Many weeks of a gluten free diet did not reduce symptoms, rather the symptoms worsened. Medical History Hypothyroidism Physical Exam and labs Depressed Cachectic Low iron Absent immunoglobulins Low alb and mag Low vit. A, E, D, and zinc High stool lactoferrin Endoscopy Atrophic appearing duodenal mucosa Histology Absence of plasmacytes; villous atrophy; high lymphocytes Discussion: Both patients presented with a severe protein- losing enteropathy and erroneous diagnoses of celiac disease. Key features of CVID enteropathy include frequent infections (especially respiratory), atypical infections (i.e histoplasmosis ), absent serum immunoglobulins, and plasma cells; other immune- mediated diseases ( both had hypothyroidism). Up to 2/3 of patients show absence of plasma cells, some with lymphocytosis and/or lymphoid aggregates and occasionally granulomas. This is why an incorrect diagnosis of Crohn's, lymphocytic enteritis, or celiac disease are common. Clinicians should monitor for bacterial, viral, and parasitic infections and the slight increase in gastric carcinoma. Both patients improved with immunoglobulin therapy.