In the Journals

'Biopsy-sparing' diagnosis useful for asymptomatic, symptomatic children with celiac disease

A recent study found the 2012 European Society of Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for celiac disease diagnosis, which recommends the omission of biopsy for certain patients, may be appropriate for diagnosing asymptomatic patients in addition to symptomatic patients.

“The new ESPGHAN guidelines for the diagnosis of celiac disease allow that symptomatic children with anti-transglutaminase [tTg] antibodies exceeding 10 times the reference values, with endomysial antibodies [EMA] positive and compatible with celiac disease genetics, can receive a diagnosis even without the need of duodenal biopsies,” Francesco Valitutti, MD, from the pediatric gastroenterology and liver unit at Sapienza University of Rome, told Healio Gastroenterology. In addition to immediately benefiting many patients, “the new diagnostic criteria, from a point of view of health policy, also significantly reduce the costs associated with endoscopy,” he said.

Francesco Valitutti

Chiara Maria Trovato

The guidelines recommend that upper endoscopy with duodenal biopsy is necessary for celiac disease diagnosis in asymptomatic patients. Therefore, Valitutti, along with Chiara Maria Trovato, MD, also from the pediatric gastroenterology and liver unit at Sapienza University of Rome, and colleagues, performed a retrospective study of 286 patients aged 10 months to 17 years (median age, 8.3 years) who were diagnosed based on elevated anti-tTg titer, EMA positivity and biopsy histology between 2007 and 2013. They grouped patients as high- or low-titer symptomatic or asymptomatic, and analyzed the accuracy of serological tests between the four groups.

“We showed that the absence of symptoms does not affect in principle the application of diagnostic ‘biopsy-sparing’ protocol,” Valitutti said. “In fact, the presence of high titer anti-tTg antibodies and positive EMA were always predictive of mucosal damage, both in symptomatic patients and in those asymptomatic.”

Overall, 68.53% of patients had anti-tTg titers at least 10 times the upper limit of normal (ULN), and among them, 79.59% were symptomatic and 20.4% were asymptomatic. Among the high-titer symptomatic patients, 91.02% had severe lesions based on Marsh-Oberhuber criteria, while 92.5% of high-titer asymptomatic patients had severe lesions. Histological damage was found to be comparable between the high-titer symptomatic and high-titer asymptomatic groups.

“If confirmed in large multicenter prospective studies, the ‘biopsy-sparing’ protocol might be recommended in the future to both symptomatic and asymptomatic patients with anti-tTG antibody titer ≥10 times ULN and EMA and HLA-DQ2/DQ8 positive,” Valitutti said. “However, it is essential to remember that in all cases the new diagnostic protocol must be handled by referral centers only and cannot be used indiscriminately in the primary care, in order to ensure the appropriateness of diagnosis and then the correct follow up.” – by Adam Leitenberger

Disclosures: The researchers report no relevant financial disclosures.

A recent study found the 2012 European Society of Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for celiac disease diagnosis, which recommends the omission of biopsy for certain patients, may be appropriate for diagnosing asymptomatic patients in addition to symptomatic patients.

“The new ESPGHAN guidelines for the diagnosis of celiac disease allow that symptomatic children with anti-transglutaminase [tTg] antibodies exceeding 10 times the reference values, with endomysial antibodies [EMA] positive and compatible with celiac disease genetics, can receive a diagnosis even without the need of duodenal biopsies,” Francesco Valitutti, MD, from the pediatric gastroenterology and liver unit at Sapienza University of Rome, told Healio Gastroenterology. In addition to immediately benefiting many patients, “the new diagnostic criteria, from a point of view of health policy, also significantly reduce the costs associated with endoscopy,” he said.

Francesco Valitutti

Chiara Maria Trovato

The guidelines recommend that upper endoscopy with duodenal biopsy is necessary for celiac disease diagnosis in asymptomatic patients. Therefore, Valitutti, along with Chiara Maria Trovato, MD, also from the pediatric gastroenterology and liver unit at Sapienza University of Rome, and colleagues, performed a retrospective study of 286 patients aged 10 months to 17 years (median age, 8.3 years) who were diagnosed based on elevated anti-tTg titer, EMA positivity and biopsy histology between 2007 and 2013. They grouped patients as high- or low-titer symptomatic or asymptomatic, and analyzed the accuracy of serological tests between the four groups.

“We showed that the absence of symptoms does not affect in principle the application of diagnostic ‘biopsy-sparing’ protocol,” Valitutti said. “In fact, the presence of high titer anti-tTg antibodies and positive EMA were always predictive of mucosal damage, both in symptomatic patients and in those asymptomatic.”

Overall, 68.53% of patients had anti-tTg titers at least 10 times the upper limit of normal (ULN), and among them, 79.59% were symptomatic and 20.4% were asymptomatic. Among the high-titer symptomatic patients, 91.02% had severe lesions based on Marsh-Oberhuber criteria, while 92.5% of high-titer asymptomatic patients had severe lesions. Histological damage was found to be comparable between the high-titer symptomatic and high-titer asymptomatic groups.

“If confirmed in large multicenter prospective studies, the ‘biopsy-sparing’ protocol might be recommended in the future to both symptomatic and asymptomatic patients with anti-tTG antibody titer ≥10 times ULN and EMA and HLA-DQ2/DQ8 positive,” Valitutti said. “However, it is essential to remember that in all cases the new diagnostic protocol must be handled by referral centers only and cannot be used indiscriminately in the primary care, in order to ensure the appropriateness of diagnosis and then the correct follow up.” – by Adam Leitenberger

Disclosures: The researchers report no relevant financial disclosures.