ABSTRACT

Celiac disease (CD), or gluten enteropathy, is a type of autoimmune-mediated malabsorption. The main problem is increased sensitivity to a protein called as gluten. There is a genetic predisposition to CD. The pre-sence of specific HLA alleles that encode for DQ2 and DQ8 is helpful in the diagnosis of CD. The relatives of patients with CD, compared to the general population, are at more risk for CD. CD occurs in families and screening of family members accounts for a significant percentage of newly diagnosed patients. In this study, a family screening diagnosis of CD with biopsy and genetic testing has been evaluated. CD had been sus-pected because of the clinical features of the patient, the biopsy was con-cordant with CD, and mutation screening by reverse hybridization was performed in the patient and her family. DQA1*0501 and DQB1*0201 al-leles in two sisters and in one cousin, DQB1*0201 allele in two brothers, and DQA1*0501 allele in one cousin were found. The families of CD pa-tients have to be tested for the disease and the patients with CD have to be encouraged to undergo genetic counseling.