A new web-based guide for the diagnosis and management of celiac disease in children helps providers navigate the difficulties associated with evaluating and treating the genetic autoimmune condition.
The Celiac Disease Foundation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) jointly developed the NASPGHAN Clinical Guide for Pediatric Celiac Disease, an evidence-based decision tree that uses probabilities derived from the published literature.
"The clinical guide consolidates the latest research, guidelines, and expert opinion into an easy-to-use and intuitive tool to help them interpret test data from a variety of sources; streamline diagnoses; and improve the quality of care they are able to deliver to [patients with celiac disease]," Norelle R. Reilly, MD, NASPGHAN Clinical Guide cochair and assistant professor of pediatrics at Columbia University in New York City, told Medscape Medical News.
"Our creation of this tool stems in large part from two key shifts we have observed in the community," she said.
"First, diagnosis rates of celiac disease are increasing. The more recent increases (ie, through the last decade) in celiac disease diagnosis are likely due to greater awareness, though research has also shown that over the last several decades disease prevalence has increased for unclear reasons," Dr Reilly explained.
"Second, the popularity of the gluten-free diet creates challenges in identifying whether individuals with symptoms attributed to wheat actually do have celiac disease. This guide was intended to help providers navigate through some of the more challenging elements of approaching the care of patients, particularly children, who may have celiac disease," she added.
A Challenging Diagnosis
Diagnosing pediatric celiac disease can be challenging, Dr Reilly said. The signs and symptoms of the disease vary, ranging from gastrointestinal symptoms, including abdominal pain, diarrhea, or constipation, to extraintestinal symptoms, including low energy, poor growth, or delayed puberty. Symptoms can be subtle, intermittent, or nonexistent.
Further, although positive celiac serology, such as anti-tissue transglutaminase IgA antibody (TTG-IgA) and endomysial IgA antibody, are good predictors of celiac disease diagnosis, children without the condition can also test positive. Therefore, the gold standard diagnostic test is small bowel biopsy before starting a gluten free diet, she said.
To help clinicians choose between several courses of action depending on a patient's history, signs, and symptoms, the branches of the decision tree stem from four nodes, which initiate the decision paths for patients with:
suspected celiac disease,
a sibling or parent with celiac disease,
a patient with a mismatch between serology and biopsy, and
a patient with positive celiac disease serology results who is refusing or cannot tolerate a confirmatory biopsy.
Each of these nodes leads to additional branches representing possible attributes. For patients with suspected celiac disease, for example, the tool asks whether the patient continues to consume unrestricted gluten. If the answer is yes, the guide recommends testing for celiac disease with TTG-IgA and total serum IgA. The results of these tests become internodes leading to more branches. If the answer is no, the guide asks clinicians to assess whether the patient is able to and willing to tolerate a gluten challenge, and leads to additional internodes and branches.
Following the path for suspected celiac disease in patients who continue to consume gluten and who have a positive celiac disease assay leads to a recommendation of endoscopy with duodenal biopsy for Marsh lesion detection, the results of which inform continued progress along the decision tree. The presence of a Marsh 3 lesion "is consistent with a diagnosis of celiac disease."
In a symptomatic patient who declines or cannot tolerate a confirmatory biopsy, recommendations depend on results of TTG-IgA titers. For example, if it is more than 10 times the laboratory's upper limit of normal, an endomysial IgA antibody is recommended, followed by testing for a celiac disease risk gene if the endomysial IgA antibody is positive. A patient with a positive genetic test under this scenario "meets criteria for a serologic diagnosis of celiac disease," the guide states.
Each screen of the interface includes the relevant literature supporting the guidance.
"Questions Can Arise With Less Commonly Encountered Scenarios"
With the increase in pediatric celiac disease diagnoses in recent decades, as reported by Medscape Medical News, along with the fact that it is a lifelong condition, pediatricians should know the typical and atypical presentations of the condition and how to diagnose and treat its complications, Dr Reilly told Medscape Medical News.
"Clinicians working in pediatric gastroenterology are familiar with celiac disease and how to diagnose this condition. However, questions can arise with less commonly encountered scenarios, such as mismatched serology and histology or patients who have already started a gluten-free diet prior to consideration of testing for celiac disease. Each of these scenarios can pose a diagnostic dilemma, and in some cases, this tool may guide clinicians towards potential strategies that may result in a more conclusive diagnosis being provided to a patient," Dr Reilly explained.
"We anticipate that this tool will initially be used predominantly by pediatric gastroenterologists and other clinicians working in this field as a reference when challenging cases are encountered. Our next goals include measuring use of the guide to determine exactly how clinicians are utilizing the algorithms we provided," she said.
"Eventually, I would envision offering use of certain aspects of the guide to general pediatricians as a means of coordinating our message to patients regarding celiac disease. Hopefully the end result of these efforts will include even greater strides in celiac disease diagnosis and limited introduction of a gluten free diet for children who have not been appropriately evaluated for the presence of celiac disease."
The guide, which is available on the Celiac Disease Foundation website, will be updated regularly to reflect the most recent research and practice, Dr Reilly said.
Dr Reilly has disclosed no relevant financial relationships.
Medscape Medical News © 2017 WebMD, LLC
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Cite this: Online Clinical Guide for Pediatric Celiac Disease Released by NASPGHAN, Celiac Disease Foundation - Medscape - Jun 27, 2017.