The results of a national multicenter study suggest that the diagnostic delay of celiac disease in the pediatric population is generally low in Italy and that clinical characteristics may be associated with a shorter or longer delay.
“Celiac disease is an immune-mediated, gluten-sensitive enteropathy,” wrote Antonio Di Sabatino, MD, professor of internal medicine at the University of Pavia in Italy and director of internal medicine at the Special Research and Treatment Institute Polyclinic San Matteo in Pavia, and colleagues.
“A strict and lifelong withdrawal from dietary gluten can revert villous atrophy in most cases and may improve quality of life,” they added, noting that celiac disease presents with a wide clinical spectrum that can make diagnosis particularly complex, especially in children.
“If individuals with celiac disease do not adhere to a gluten-free diet, they may experience significant clinical manifestations, including iron deficiency anemia, growth delay, weight loss, and diarrhea. Therefore, it is important for the disease to be promptly diagnosed, given the impact that these clinical conditions have in pediatric age,” Di Sabatino told Univadis Italy.
A Heterogeneous Disease
“This wide heterogeneity [of symptoms] may lead to a delayed diagnosis and may also increase the risk of misdiagnosis,” wrote the authors. In their retrospective, multicenter study, they evaluated the diagnostic delay of celiac disease in Italian children and the factors associated with it.
“All participating Italian centers are of the highest level, representing points of reference and excellence for pediatric celiac disease and covering the entire national territory. Therefore, we believe that our data reflect the current Italian situation. From a subanalysis, no significant differences emerged in terms of diagnostic delay between the participating centers,” said Di Sabatino.
Until about 15 years ago, the diagnosis in the pediatric population and in the adult population required positivity for specific celiac antibodies (ie, anti-transglutaminase immunoglobulin [Ig]–A and anti-endomysial IgA) was found, the performance of a gastroscopy with duodenal biopsies to confirm villous atrophy. Recent European pediatric guidelines state that if anti-transglutaminase IgA antibodies in serum are at levels above 10 times the normal limit, then gastroscopy with biopsy can be avoided. “This has significantly reduced diagnosis times and decreased the use of digestive endoscopy and some related aspects (such as waiting times, procedure risks, need for deep sedation),” said Di Sabatino. In certain situations, however, the pediatrician may consider a biopsy even in children with celiac disease. These situations include low serum levels of anti-transglutaminase IgA antibodies and IgA deficiency.
Factors Influencing Delay
The analysis included more than 3000 pediatric patients with celiac disease from 13 pediatric referral centers. The results showed a median diagnostic delay of 5 months. About 18.5% of patients experienced an extreme diagnostic delay with a median period of over 11 months between the first symptoms and the definitive diagnosis.
The analysis also revealed several factors that can influence diagnostic delay, including age at first diagnosis, gender, and family history of celiac disease. For example, patients diagnosed before age 3 years tend to have shorter diagnosis times than do other age groups, and symptoms such as neurologic disorders, gastroesophageal reflux, and growth problems were associated with a higher risk for extreme diagnostic delay.
“In this cross-sectional study of pediatric celiac disease, the diagnosis was usually made in a timely fashion, except for some cases, in which both gastrointestinal and less common symptoms or disease associations led to a prior misdiagnosis and diagnostic delay,” wrote the researchers. They noted the importance of paying attention to factors that can influence diagnostic delay to ensure optimal management of the disease from its early stages.
Warning Signs
Celiac disease presents numerous clinical manifestations that should not be underestimated, said Di Sabatino. “The manifestations that parents should pay attention to are alterations in intestinal function (both diarrhea and constipation), abdominal pain, weight loss or growth delay, delayed puberty, chronic fatigue, and dental enamel alterations. Pediatricians, in addition to the signs or symptoms mentioned above, should pay attention to hematological and biochemical alterations, such as anemia, especially iron deficiency anemia, electrolyte disturbances, low albumin levels, and elevated transaminases.”
Di Sabatino emphasized that if a parent or sibling is affected by the disease, the child should undergo antibody testing even in the absence of symptoms. “Finally, even children who already have other autoimmune diseases, such as type 1 diabetes mellitus, autoimmune thyroid diseases, vitiligo, Addison’s disease, or who suffer from certain conditions, such as Down syndrome or Turner syndrome, should undergo antibody testing even in the absence of symptoms, as the risk of celiac disease in all these cases is higher,” he concluded.
This story was translated from Univadis Italy, which is part of the Medscape Professional Network, using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.