Celiac Disease as a Masking Condition — The Role of Extraintestinal Symptoms in Delayed Diagnosis

Background: Celiac disease is a chronic autoimmune enteropathy caused by gluten in genetically predisposed people. It affects about 1% of the population. It was once seen mainly in children, but adult diagnoses are rising. Symptoms stem from immune reactions and nutrient deficiencies from gluten intake. Proper diagnostic tests allow quick diagnosis and treatment with a gluten-free diet (Durazzo et al., 2022). Aim: This study intends to present the current state of knowledge regarding celiac disease, with particular emphasis on its extraintestinal manifestations. Their occurrence frequently represents a diagnostic challenge for physicians and may lead to inappropriate treatment management. This review intends to increase physicians’ clinical awareness and encourage the use of appropriate, targeted diagnostic investigations. Conclusions: The conducted literature analysis shows that celiac disease remains undiagnosed in a significant proportion of patients presenting with extraintestinal symptoms. Because gastrointestinal manifestations predominated in the past, physicians’ diagnostic vigilance has diminished. Extraintestinal symptoms currently constitute a major diagnostic challenge and are increasingly observed, complicating and delaying accurate diagnosis. Untreated celiac disease may lead to serious complications that could be prevented through proper interpretation of these manifestations. Therefore, it is the key for physicians — particularly those working in primary care — to recognize these disease manifestations and quickly initiate treatment with a gluten-free diet, which markedly improves the prognosis of patients with celiac disease.