Practice Variation and Guidelines for the Diagnosis and Treatment of Celiac Disease in Children

While our collective understanding of celiac disease and its causative factors have grown considerably in the past 70 years, there is still much variability in the way the disease is diagnosed and treated. The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) released guidelines in 2005 to help standardize diagnosis and treatment of celiac disease in children. Yet, despite these clearly outlined guidelines, we continue to see wide variability in testing, diagnosis and outcomes for youth with celiac disease.

Investigating the difference in testing and treatment

At Children’s Hospital of Philadelphia, the Center for Celiac Disease evaluates and treats more than 1,200 patients annually with celiac disease – and is one of the largest multidisciplinary programs for children in the county. In recent years, anecdotal evidence from patients seeking second opinions or care at CHOP has indicated that NASPGHAN guidelines are not being uniformly followed. We sought to find out why and how it may be affecting patients.

We recently led a NASPGHAN-sponsored study surveying hundreds of pediatric gastroenterologists to better understand how the disease was being diagnosed and treated in North America. As suspected, we discovered a great deal of variability – not just in screening and diagnostic practices, but in long-term outcomes for youth.

Survey results revealed that more than 50% of clinicians offer non-biopsy diagnosis of celiac disease, despite endoscopy being considered the gold standard in diagnosis, not to mention a valuable tool in the evaluation of co-existing gastrointestinal conditions in the digestive tract (i.e., Helicobacter pylori, eosinophilic esophagitis).

Although most clinicians checked total Immunoglobulin A and tissue-Transglutaminase IgA antibody (tTG-IgA) as part of celiac disease screening, there was great variation in screening practices based on region. Deamidated gliadin and endomysial antibody tests were also frequently utilized, particularly in the United States.

Best practices for children with celiac disease

Like most pediatric gastroenterologists, we believe our patients with celiac disease deserve every tool for success possible. At CHOP that means:

• Diagnosis with the latest and most accurate diagnostic tools including endoscopy and blood tests to establish a baseline
• An individualized treatment plan with input from a multidisciplinary team of gastroenterologists, nurses, nutritionists, psychologists and social workers
• Teaching from dedicated nurses for patients newly diagnosed with celiac disease and those transitioning to caring for themselves more — e.g., teens cooking for themselves or going to college
• Support from psychologists and social workers if the patient has any issues with food compliance/avoidance/resistance to better understand the importance of a gluten-free diet
• Annual follow-up with gastroenterology and nutrition — with testing as needed — to ensure the current treatment plan is meeting the patient’s health and personal goals
• Navigating the challenges of a gluten-free diet, including the higher cost of certain foods that are manufactured to be gluten free (like bread or pasta) and naturally gluten-free foods (like fresh produce)

Gluten challenge in children

CHOP is also collaborating with MassGeneral Hospital on a collaborative study reviewing the efficacy of gluten challenges in children and how clinicians can guide families and proceed with this valuable diagnostic test.

Accurately identifying celiac disease versus other gluten-related disorders generally requires patients to be on a gluten-containing diet. Unfortunately, many patients (whether under guidance from a physician or parent) are halting or limiting gluten-containing foods before testing or consultation with a gastroenterologist. The reason for this is multifactorial:

• Removing gluten from the diet improves symptoms
• Misinformation or medical mistrust dissuades families from pursuing evaluation
• Access to pediatric gastroenterologists and endoscopy are not readily available
• Cost or inability to navigate medical system impedes families from evaluation

A patient participating in a gluten challenge would ingest a pre-determined dosage of a gluten-containing food repeatedly over several weeks or months, then diagnostic tests would be performed (e.g., celiac serologies and endoscopy) to provide clarity of the patient’s diagnosis.

While celiac disease is a life-long autoimmune condition that requires monitoring and strict adherence, non-celiac gluten sensitivity and irritable bowel syndrome may benefit from gluten reduction and may not require the same diligent approach.

Clinicians are investigating what factors may play a role in determining what type of pediatric patient may benefit from a gluten challenge, taking into consideration:

• The youth’s age and pubertal development
• When the patient was clinically diagnosed or stopped eating gluten
• Physical, psychological or social challenges the patient is facing

A gluten challenge may not be appropriate for all patients — and may not deliver the results the patient hopes for — but information gleaned from the test could help clinicians deliver more personalized treatments and peace of mind to families.

In conclusion

We don’t have all the answers about celiac disease in children, but we have come far in terms of diagnosis and standardizing treatment for this disease that affects 1 in every 100 children. We are committed to studying ways we can improve the quality of life and long-term outcomes for all patients with celiac disease.

Arunjot Singh, MD, MPH, is Co-director of the Center for Celiac Disease, and an attending physician in the General Diagnostic Gastroenterology Program and Division of Gastroenterology, Hepatology and Nutrition at Children’s Hospital of Philadelphia.