Celiac.com 03/03/2014 - Spotting celiac disease early is important for optimal patient outcome. However, serological markers of celiac disease aren't much good for spotting mild histopathological lesions in adults at risk for celiac.

A team of researchers recently set out to assess the usefulness of human leukocyte antigen (HLA)-DQ2/8 genotyping, followed by duodenal biopsy for the detection of celiac disease in adult first-degree relatives (FDRs) of patients with celiac disease.

The research team included L. Vaquero, A. Caminero, A. Nuñez, M. Hernando, C. Iglesias, J. Casqueiro, and S. Vivas. They are variously affiliated with the Gastroenterology Unit, the Pathology Department, and the Pediatric Department of the University Hospital of León, Altos de Nava, with the Institute of Molecular Biology (INBIOMIC), the Microbiology Department and the Institute of Biomedicine (IBIOMED) at the University of León, all in León, Spain.

For their study, the team looked at ninety-two adult DQ2/8 positive FDRs. They offered duodenal biopsy irrespective of the serology result or associated symptoms. They then noted clinical features, associated autoimmune diseases and biochemical parameters.

The team conducted duodenal biopsies on sixty-seven FDRs, averaging 34 years of age. Thirty-two of those patients (48%) showed histopathological changes, which broke down as follows: twelve patients Marsh I (18%), one Marsh II (1.5%), four Marsh IIIA (6%), five Marsh IIIB (7.5%) and ten Marsh IIIC (15%).

Seventeen of the sixty-seven patients (25%) showed positive serological markers, with only one showing Marsh I and the remainder presenting some degree of duodenal atrophy (Marsh III).

Thirty-three of the sixty-seven patients (54%) suffered gastrointestinal symptoms, with dyspepsia being the most common complaint.

The distribution of symptoms, anaemia and autoimmune disease was not changed by a patient's duodenal histopathological stage.

Overall, in first-degree relatives, current blood-based screening would diagnose 50% of the cases that displayed any celiac disease characteristic, and miss 6% of the cases with mucosal atrophy.

From these results, the team concludes that adult first-degree relatives of patients with celiac disease can benefit from a screening strategy on the basis of HLA-DQ genotyping, followed by a duodenal biopsy.

FDRs with gastrointestinal and other symptoms may see improvement on a gluten-free diet.

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