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44% of First-Degree Relatives of those with Celiac Disease also Affected

Scand J Gastroenterol. 2003 Jul;38(7):727-31.
Effectiveness of the sorbitol H2 breath test in detecting histological damage among relatives of coeliacs.
Tursi A, Brandimarte G, Giorgetti GM, Inchingolo CD.
Dept. of Emergency, L. Bonomo Hospital, Andria (BA), Italy.

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Celiac.com 08/07/2003 - An Italian study conducted by Dr. L. Bonomo and colleagues and published in the July 2003 edition of Scandinavian Journal of Gastroenterology concludes that A significant proportion of coeliacs may be missed if relatives are screened by serology only, while the efficacy of sorbitol H2-BT in screening relatives is confirmed. This study confirms that neither a breath test nor serology can replace intestinal biopsy, which remains the gold standard for the diagnosis of CD, thus confirming the continued importance of performing biopsies for diagnosing celiac disease. The studys goal was to determine the diagnostic capabilities of serological tests (antigliadin (AGA), antiendomysium (EMA) and anti-tissue transglutaminase (anti-tTG)) and sorbitol H2 breath test (H2-BT) in the detection of celiac disease in first-degree relatives. The study screened 111 first-degree relatives of 37 celiac families using both test methods to determine candidates for small-bowel biopsy. First-degree relatives with abnormal test results underwent a small-bowel biopsy, as did those with negative serological and H2 breath test results who had clinical complaints or suspected that they may have celiac disease.

The biopsy results were expressed using the Marsh classification system, and celiac disease was diagnosed in 49 of the 111 screened relatives of celiacs, or in 44.14%. A breakdown of the results is as follows: 5 showed Marsh IIIc, 8 Marsh IIIb, 16 Marsh IIIa, 13 Marsh II and 7 Marsh I lesions. 19 relatives showed the classical form of celiac disease, 20 showed the sub-clinical form, and 10 showed the silent form. The serological test results indicated an overall positivity of only 36.73%, with strong positive results only in those with severe intestinal damage and Marsh IIIb-c lesions. The sorbitol H2-BT breath test results showed an overall positivity of 83.67%, and showed strong positivity in patients with slight histological damage (Marsh I-IIIa).

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