The first-degree relatives of patients with celiac disease are the main risk group for disease development.
Dr Santiago Vivas and colleagues from Spain evaluated the screening strategy in first-degree relatives with negative celiac 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.
Adult first-degree relatives with negative celiac serology were invited to participate, 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.
|Symptoms were observed in 46% of the participants|
|Journal of Gastroenterology & Hepatology|
The researchers included 139 participants.
The team noted that HLA-DQ2/8 was positive in 78% of the participants.
The research team observed histopathological alterations in 37% of participants who underwent duodenal biopsy.
At baseline, symptoms were observed in 46% of the participants, and the proportion decreased to 25% after the gluten-free diet.
Symptoms were not associated with the presence of histological alterations or genetic risk.
However, younger age, and the presence of autoimmune disorders were independently associated with a significant symptom response to the gluten-free diet.
Dr Vivas' team concludes, "Duodenal lymphocytosis and atrophy are frequently noted in first-degree relatives, despite negative serological markers."
"In addition, gastrointestinal symptoms are commonly present and associated with gluten intake regardless of the histological pathology."