Celiac disease

Celiac disease is an intolerance to gluten proteins and often causes severe atrophy of the upper small intestine mucosa. This intolerance is permanent, is maintained throughout life and occurs in genetically predisposed people. 

Pathogeny 

Most of the models described on the pathogenesis of this disease consider it immunological, concurring in genetic and environmental factors, so that the combination of both factors is required for the disease starts. 

Mainly been genetically associated with the presence of genotype DQ2 (encoded by DQA1 * 05 and DQB1 * 02 alleles) or homozygotes heterozygosity presence or DQ8 (encoded by DQA1 * 03 and DQB1 * 0302 alleles) homozygous. While the absence of the 4 alleles DQ2 and DQ8 is useful for excluding celiac disease with a negative predictive value of 99%. 

Treatment 

No drug treatment. The only therapeutic approach is suppression of the diet of all products that have gluten, specifically all the products including flours of barley, rye, oats and wheat. 

After exclusion of gluten from the diet, the complete histological recovery does not occur immediately; adults may even take more than 2 years and does not occur in children before the year of dietary treatment. 

 

THE TEST

With the aim of giving a more complete result, currently the entire HLA-DQA1 and HLA DQB1 typing is performed, in order to know whether both alleles encoding the DQ2 and DQ8 complex. This combined test enables to evaluate genetic susceptibility to celiac disease.