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J Pediatr Gastroenterol Nutr. 2012 Aug;55(2):205-8. doi: 10.1097/MPG.0b013e318249378c.

Prevalence of celiac disease among first-degree relatives of patients with celiac disease.

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Department of Pediatrics, Division of Pediatric Gastroenterology Hepatology and Nutrition, Fırat Medical Faculty, Firat University, Elaziğ, Turkey.



Celiac disease, an autoimmune enteropathy that affects the proximal small intestine, is characteristically seen in people who have a genetic susceptibility to gluten sensitivity. Celiac patients' first-degree relatives are more at risk of acquiring the disease. The objective of the present study was consequently to determine the prevalence of celiac disease in a group of first-degree relatives of our patients with celiac disease.


First-degree relatives of 195 patients with celiac disease attending a gastroenterology unit underwent serologic screening. Antitissue transglutaminase (anti-tTG) immunoglobulin A (IgA) and total serum IgA tests were used for first-level screening. Duodenal biopsy was recommended to subjects showing positive results to anti-tTG IgA testing. Biopsy samples were obtained by endoscopy, and biopsy specimens were evaluated and classified according to Marsh classification.


Positive anti-tTG IgA was found in 46 first-degree relatives (9.5%), whereas serum IgA levels were normal. Of 46 serology-positive relatives, 34 agreed to the endoscopy procedure. Histological changes characteristic of celiac disease were found in 23 subjects. The prevalence of celiac disease among the first-degree relatives was found to be at least 4.8%. Of 34 subjects that underwent biopsy, 11 were evaluated as Marsh 0, 5 as Marsh 1, 4 as Marsh 2, 12 as Marsh 3, and 2 as Marsh 4. Of the biopsy-positive subjects, 3 were mothers, 1 was a father, and 19 were siblings.


The present study identified 23 undiagnosed cases of celiac disease among 484 first-degree relatives of 195 patients with celiac disease, confirming the high prevalence (4.8%) of the disease in this specific group. It is suggested that an extensive screening policy be mandatory for these subjects.

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