Clinical Presentation, Diagnosis and Treatment of Celiac Disease

Celiac disease immune mediated disease in which the body makes antibodies against tissue transglutaminase (tTG) enzyme. Gluten is the most important environmental trigger and the disease has specific association with class II haplotypes of HLA DQ2 (haplotypes DR17 or DR5 or 7) and, DQ8 (haplotype DR4).


Clinical presentation: Typically it presents with abdominal symptoms between 6 months to 2 years of age (Age at which gluten is introduced in the diet). Symptoms include diarrhea, poor appetite, abdominal pain, emesis and failure to thrive. Celiac crisis can be a rare presentation in which the patient has severe watery diarrhea, bloating, dehydration, electrolyte imbalance(low K) and shock. Older children can present with nausea, vomiting, recurrent stomachache, constipation, diarrhea, anemia and stunting of growth.


Diagnosis: Antigliadin (AGA) tests were commonly used but now have fallen out of favor due to low sensitivity and specificity. The IgA endomysium (EMA-IgA) and tissue transglutaminase (TTG-IgA) tests are currently the tests of choice due to their high specificity. Diagnosis has to be confirmed by duodenal biopsy A minimum of 4 biopsy samples are recommended as patchy involvement is common.


Treatment: Complete avoidance of gluten is the key. This means avoiding Wheat, rye, barley. Oats are considered safe.