Coeliac disease and gastrointestinal symptom screening in adult first‐degree relatives

Background and Aim The first‐degree relatives (FDRs) of patients with coeliac disease are the main risk group for disease development. The study aims to evaluate the screening strategy in FDRs with negative coeliac serology based on human leukocyte antigen (HLA) genotyping, followed by duodenal biop...

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Bibliographic Details
Published in:Journal of gastroenterology and hepatology 2017-12, Vol.32 (12), p.1931-1937
Main Authors: Vaquero, Luis, Rodríguez‐Martín, Laura, Alvarez‐Cuenllas, Begoña, Hernando, Mercedes, Iglesias‐Blazquez, Cristina, Menéndez‐Arias, Cristina, Vivas, Santiago
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Aged
Atrophy
Autoimmune Diseases
Biopsy
Celiac disease
Celiac Disease - diagnosis
Celiac Disease - etiology
Celiac Disease - genetics
Celiac Disease - physiopathology
coeliac disease
Diet
Diet, Gluten-Free
duodenal lymphocytosis
Duodenum - pathology
Family
Female
Genetic Testing - methods
Genotype
Genotyping
Genotyping Techniques
Gluten
Glutens - administration & dosage
Glutens - adverse effects
gluten‐free diet
Histocompatibility antigen HLA
HLA Antigens - genetics
Humans
Lymphocytosis
Male
Middle Aged
non‐coeliac gluten sensitivity
Risk
Serology
Serology - methods
Sex Factors
Surveys and Questionnaires
Symptom Assessment
Young Adult
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Summary:Background and Aim The first‐degree relatives (FDRs) of patients with coeliac disease are the main risk group for disease development. The study aims to evaluate the screening strategy in FDRs with negative coeliac serology based on human leukocyte antigen (HLA) genotyping, followed by duodenal biopsy, and to analyze the prevalence of gastrointestinal symptoms and the influence of gluten intake. Methods Adult FDRs with negative coeliac serology were invited to participate (n = 205), and a total of 139 completed the study protocol. HLA genotyping, transglutaminase antibody assessment, and duodenal biopsy were performed. Symptomatology was assessed using questionnaires during the various phases of dietary modification (baseline diet, gluten‐free diet, and gluten overload). Results The study included 139 participants (mean age, 42 years; 53.2% women). HLA‐DQ2/8 was positive in 78.4% of the participants (homozygous, 15.1%; heterozygous, 63.3%). Histopathological alterations were noted in 37.1% of participants who underwent duodenal biopsy (Marsh I, 32.7%; Marsh IIIa, 4.4%). At baseline, symptoms were observed in 45.7% of the participants, and the proportion decreased to 24.5% after the gluten‐free diet (P 
ISSN:0815-9319
1440-1746
DOI:10.1111/jgh.13801