A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis

Celiac disease (CD) is a systemic autoimmune pathological condition caused by the intake of gluten in genetically predisposed individuals. Despite its wide prevalence, it remains an underdiagnosed disease since a large percentage of individuals who suffer from the condition do not have the classic symptoms described for the disease. We present the case of a 43-year-old man with severe iron deficiency and asthenia. We found high levels of anti-transglutaminase and anti-endomysium antibodies, a severe intraepithelial lymphocytosis, 3A Marsh-Oberhuber classification upon gastroscopy and the presence of HLA-DQ2 and HLA-DQ8 heterodimers. The patient was diagnosed with CD and was placed on a gluten-free diet. After 19 months, an improvement in biomarkers of CD and other biochemical parameters was observed. A delay in the diagnosis of CD can produce nutritional deficiencies, such as iron deficiency which may not improve even with oral iron treatment. In similar clinical presentation, the laboratory can advance a diagnosis of CD.