Prevalência de susceptibilidade genética para doença celíaca em familiares de primeiro grau de pacientes e sua associação com sintomas relacionados à doença celíaca

• Main Author: Lopes, Leticia Helena Caldas [UNIFESP]
• Publication Date: 2013
• Format: Doctoral thesis
• Language: por
• Source: Repositório Institucional da UNIFESP
• dARK ID: ark:/48912/00130000214vw
• Download full: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=941448; http://repositorio.unifesp.br/handle/11600/46994
• topic: hla antigens; celiac disease/diagnosis; family; symptoms; prevalence; antígenos hla; doença celíaca/diagnóstico; família; sintomas prevalência

Objectives: To evaluate the frequency of genetic susceptibility to celiac disease (CD) among first-degree relatives of patients with the disease and diagnose potential cases of CD in these families. To evaluate the association of genetic susceptibility and symptoms related to CD and the association of homozygosity for DQB1*02 with the same symptoms. Methods: All first-degree relatives of 47 patients with a diagnosis of CD followed in pediatric gastroenterology outpatient clinic were invited to participate in the study. The participants answered a questionnaire about the presence of symptoms related to CD and underwent blood sampling for survey of HLA-related DC (Biodiagene, Italy), as well as for measurement of human recombinant tissue transglutaminase antibody class IGA (tTG IgA) in those with genetic susceptibility. Those familiar with abnormal result of tTG IgA were invited to perform endoscopy for small intestinal biopsy Results: Among 131 families, 114 (87.0%) participated in the study. Genetic susceptibility was observed in 85 of 114 families (74.5%) and the haplotype DR3DQ2 heterozygous for DQB1 * 02 was the most common. Abnormal results of tTG IgA were obtained in 8 of 85 (9.4%) families susceptible. Two families did not agree to pursue the investigation. The observed prevalence of CD was 6.2%. There was no association between genetic susceptibility and frequency of symptoms related to CD, as there was no association between homozygosity for DQB1 * 02 and the frequency of symptoms related to CD. Conclusions: The prevalence of genetic susceptibility to DC is high in first-degree relatives. There was no association between genetic susceptibility and symptoms related to DC, nor association of DQB1 * 02 homozygosity of these symptoms.