Why Are There So Many Missed Diagnoses in Celiac Disease?

Abstract

Celiac Disease is a chronic, multisystemic, autoimmune-mediated, genetic disorder that is triggered by the ingestion of gluten. This condition only develops in individuals with a specific genetic predisposition (HLA-DQ2/HLA-DQ8 haplotypes). Gluten is a group of proteins found mainly in wheat, barley, and rye (and in some oat products due to cross-contamination), and its consumption provokes an abnormal immune response that damages the lining of the small intestine ⁽¹⁾. This damage is characterized by atrophy of the intestinal villi—structures essential for nutrient absorption—leading to malabsorption and potentially resulting in nutritional deficiencies of varying severity which is characteristic, although not pathognomonic, ranging from an increase in intraepithelial lymphocytic infiltrate (ILEs) to total villous atrophy. Present a wide array of symptoms, affecting nearly every organ system ^(2,3).

At present, the only effective treatment is a strict and lifelong gluten-free diet, which can reverse inflammation, promote recovery of the intestinal mucosa, and prevent long-term complications. Comprehensive management also involves dietary education, clinical and nutritional follow-up, and monitoring for associated comorbidities⁽⁴⁾. Given its impact on quality of life and the need for sustained adherence to treatment.

It is an emerging disease that represents a serious hidden public health problem worldwide, with high and increasing prevalence and healthcare costs ^(5,6). It has a global, homogeneous distribution, independent of race and age. The gender ratio is 2-3:1, with a higher incidence in women than in men.

There is written evidence of its existence dating back to the 2nd century BC, but it was only during World War II that gluten was identified as the toxin for these patients, leading to the adoption of a gluten-free diet.

We know that the number of missed diagnoses in celiac disease exceeds the number of confirmed cases. According to different authors, for every diagnosis that made, between three and ten cases remain undetected (with a global prevalence of approximately 1–2%) ^(2,3,7). We also know how important is an early diagnosis, because it helps prevent complications—many of them serious—and associated conditions that, in general, do not reverse after starting a gluten-free diet if treatment begins too late^(8,9). When diagnoses are made in childhood and children adhere to a strict gluten-free diet, they typically do not develop complications or associated diseases later in life ^(2,10).

The aim of this communication is to analyze the main causes of underdiagnosis in celiac disease, raise awareness among healthcare professionals regarding non-classical clinical presentations, identify avoidable diagnostic errors, and promote increased clinical suspicion—particularly in at-risk populations—in order to shorten diagnostic delays and improve patient outcomes.