OK to skip biopsy for celiac diagnosis in some children, Europeans say

Last Updated: 2019-03-25

By Marilynn Larkin

NEW YORK (Reuters Health) - A diagnosis of celiac disease can be made without histology in a "significant number" of children, researchers in Europe say. Not all U.S. experts are convinced, however.

Marjolijn Landman of Maasstad Ziekenhuis in Rotterdam and colleagues evaluated the effect of implementing the 2012 European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guideline and diagnostic algorithm for a celiac disease diagnosis in 253 children (median age, 6.6 years; 59% girls) in The Netherlands.

The guideline says the gold-standard biopsy can be skipped in children who meet specific criteria. In symptomatic children with immunoglobulin A anti-tissue transglutaminase type 2 antibody (IgA-tTG) titers >10 times the upper limit of normal), anti-endomysial antibodies (EMA) and predisposing genetic markers (HLA DQ2/8), the duodenal biopsy can be omitted. In asymptomatic children at increased risk for CD, the diagnosis is based on positive serology and histology. HLA testing is valuable because CD is unlikely if both haplotypes are negative. (http://bit.ly/2TUE7qK)

As reported online March 8 in the Archives of Diseases in Childhood, 229 children had symptoms suggestive of celiac disease; 24 (9%) did not and were screened based on family history or presence of an associated condition.

Celiac disease was diagnosed in 184 (73%). The ESPGHAN guideline was fully followed in 146 children with symptoms (64%) and in 17 asymptomatic children (70%). Full adherence to the guideline was limited by selective measurement of EMA and by selective HLA typing.

IgA-tTG was measured in all patients, whereas EMA was measured in 160 (72%) and HLA DQ 2.2/2.5 and/or DQ8 typing was performed in 196 (76%).

In 46% of patients, a duodenal biopsy was done for histological evaluation.

"Implementation of the 2012 ESPGHAN guideline resulted in a 54% reduction in the number of endoscopies needed to diagnose celiac disease, indicating that diagnosis of celiac disease can be made without histology in a significant number of children," the authors conclude.

A revised ESPGHAN guideline is expected in 2019, according to the authors.

Dr. Amy DeFelice, a pediatric gastroenterologist at Columbia University's Celiac Disease Center / NewYork-Presbyterian Hospital in New York City, told Reuters Health by email, "European labs are much more standardized than U.S. labs so I do not feel those guidelines apply to the U.S. without more studies done here."

"So far. the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) guidelines have not been updated to agree with ESPGHAN guidelines," she noted.

"Patients are savvy and often know of the ESPGHAN guidelines before they come for their initial visit," she said. "I always encourage an intestinal biopsy as the gold standard. But if the family refuses, I do feel that following the ESPGHAN guidelines for symptom scoring for celiac - tissue transglutaminase antibodies > 10 X the upper limit of normal range, positive EMA and positive genetics - need to be followed for me to agree that the child does not need a biopsy."

"Since celiac is a lifetime disease, I feel it is important to be certain the child has celiac and not skip steps," Dr. DeFelice concluded.

Dr. Aliza Solomon, a pediatric gastroenterologist at Weill Cornell Medicine and NewYork-Presbyterian, also in New York City, told Reuters Health, "Many American physicians have already adopted the ESPGHAN guidelines for the diagnosis of celiac disease in symptomatic patients into practice."

"Unfortunately," she said by email, "when treating children, endoscopies require anesthesia, and careful consideration of the pros and cons should always be made. A less invasive method to diagnose celiac disease is always welcome, but (results) should be interpreted with caution in patients with autoimmune conditions such as uncontrolled type 1 diabetes and should be done only by a pediatric gastroenterologist."

Dr. Wesley McWhorter, a dietitian and nutritionist at UTHealth School of Public Health in Houston, said in an email to Reuters Health, "Less obtrusive diagnostic criteria without a biopsy can offer streamlined and cost-effective care. However, there are concerns that the majority of patients with non-responsive celiac disease will be missed, potentially leading to further complications for at-risk patients."

Dr. Douglas Fishman, Director of GI Endoscopy and Therapeutic Endoscopy at Texas Children's Hospital, also in Houston, said by email, "This study is retrospective and data are lacking to make...recommendations to avoid endoscopy in the majority of patients at this point."

"As many studies have shown a correlation between celiac disease and other conditions," he said, "an endoscopy may be for more than just evaluating celiac disease."

"Celiac disease occurs at a relatively high rate in Western Europe compared to other areas," he noted. "Well-designed prospective studies are necessary before the current methods are changed dramatically. We must consider access to endoscopy, costs, and family preferences, (which) may be different in different regions of the world."

"Currently, endoscopy provides important information to patients, families, and the care team in the diagnosis of celiac disease and other disorders," he said. "Multiple societies will likely have modified recommendations in the coming years; however, the gold standard for celiac disease remains endoscopy with biopsy."

Landman did not respond to requests for a comment.

SOURCE: http://bit.ly/2TXFJQz

Arch Dis Child 2019.