Valor predictivo y utilidad clínica del genotipado HLA-DQ en el diagnóstico de la enfermedad celiaca en mayores de 50 años

Abstract

IntroductionCeliac disease is significantly undiagnosed, especially in older individuals. The aim of this study is to determine the predictive value of HLA-DQ typing in the diagnosis of celiac disease in patients over 50 and analyze the possible relationship between the gradation of risk attributed to the alleles and diagnosis in elderly. Materials and methods635 patients were studied during 2013 with suggestive symptoms of celiac disease. The diagnosis was confirmed by serologic studies and small bowel biopsy. The HLA-DQ genotyping was performed using a PCR-SSOP technique. Results68 of out 635 patients studied (10.7%) were older than 50 years with a male to female ratio of 1:3. The frequency of the alleles that has been associated with risk of CD (HLA DQ2.5 and/or HLA DQ8) was 87.5% (56 patients), being celiac 13 of them. 21 patients carry the half allele of HLA-DQ2.5 (DQA1*05 or DQB1*02) associated with low risk of celiac disease being none of them celiac. One patient with celiac disease did not carry DQ2.5 or DQ8 heterodimers but was positive for serological and histological analysis. The positive predictive value of the use of HLA testing in the population older than 50 years is 29.27% and the negative predictive value is 93%. ConclusionsDue to the high negative predictive value, the determination of HLA-DQ is a useful marker in the diagnosis of CD, in individuals over 50 with associated clinical. There was no relationship between low risk alleles and late onset of disease.