Common Variable Immunodeficiency or Celiac Disease? Or Both in the Same Patient?

Abstract

Introdution: Common variable immunodeficiency (CVID) is the most common life-threating primary immunodeficiency disease. There are few reports concerning CVID and celiac disease (CD) in the same patient. In this study, we describe clinical picture and histological alterations on duodenal mucosa of two patients with the initial diagnosis of CVID and posterior CD diagnosis. In addition, we evaluate of the role of a gluten-free diet (GFD) in the follow-up of the patients. Methods: Case 1. A 52-year-old woman, diagnosed with CIVD, receiving intravenous gamaglobulin (i.v.IgG). Three years ago symptoms of intestinal malabsorption, weight loss (15kg). At the first consultation, severe malnutrition, anasarca, anemia, hypoalbuminemia, indetectable IgA and very low levels of IgG and IgM; HLA DQ2 positive / DQ8 negative. Histology revealed villous atrophy, crypt hyperplasia and increased number of IEL and few plasmocytes in the lamina propria. Final diagnosis were CVDI and CD. Treatment, i.v.IgG and GFD. Follow-up: After 6 months, without GI symptoms, gained weight. After 10 months presented dermatitis herpetiformis. She was followed in another service and return after 4 years with weight loss and gastric complaints. Upper endoscopy revealed gastric tumor and abdominal ultrasonography liver metastasis. She died after one month after gastric surgery. Case 2: A 50-years-old man diagnosed with CVID, receiving i.v.IgG for 10 years. For the last 9 months, diarrhea, weight loss (13 kg). Two years ago, chronic hepatopathy, suggesting portal hypertension. At first consultation, severe malnutrition, anasarca, increased levels of transaminases and gama GT, anemia, hypoalbuminemia, indetectable IgA and low levels of IgG and IgM; HLA DQ2 negative / DQ8 positive. Histology revealed gastritis, Hp-; villous atrophy and increased number of IEL. Few plasmocytes in the lamina propria. Final diagnosis were CVDI and CD. Treatment: i.v.IgG and GFD. Follow-up: After 3 months, gained weight, duodenal biopsy showed slight improvement lesions. Prednisone was introduced. After 9 months, great clinical and histological improvement in duodenal mucosa. Currently treated with low dose of steroids, GFD and i.v.IgG. Discussion: The association between CD and CVID should not be considered as fortuitous. We recommend screen to CD in patients with CVID with GI complaints. Clinicians should be aware of the low sensitivity of serologic testing in this setting.