Seronegative Celiac Disease; Frequently Encountered Yet Undiagnosed Clinical Entity

BACKGROUND There are limited studies on the seronegative celiac disease from the Indian subcontinent. The aim of this study was to assess the prevalence, pathological, genetic, and clinical profile of patients with seronegative celiac disease. METHODS This prospective observational study was conducted in the Department of Gastroenterology, SMS Hospital, Jaipur, between October 2017 to March 2019. Consecutive patients with seronegative celiac disease with age ≥ 3 years were enrolled for the assessment of demography, clinical features, histological findings, celiac serology, genetic analysis, and response to gluten-free diet. RESULTS Out of total of 312 patients with celiac disease, 13 (4.16 %) patients (median age 25 years [range 5-46 years], 10 female) were diagnosed as having seronegative celiac disease. Presenting symptoms were chronic diarrhea in nine (69.23%), abdominal pain in six (46.15%), weight loss in five (38.46%), and short stature in two (15.38 %) patients. On histological analysis, Marsh stage 2 was seen in five (38.46%), Marsh 3c in two (15.38%), Marsh 3a in three (23.07%), and Marsh 3b in three (23.07%) patients. On HLA analysis, HLA-DQ2.5 was seen in six (46.15%) patients, HLA-DQ2.2 in five (38.46%), and HLA-DQ8 in two (15.38%) patients. CONCLUSION The prevalence of seronegative celiac disease in our study was 4.16%. The most common symptoms were chronic diarrhea and abdominal pain, and the histological grade was Marsh stage 2.