Raga Ana Comes, Tamarit Irene Millá, Sánchez Marta Fandos, Timoneda Pilar Teresa Timoneda, Macia Clara Marti, Ayet Ana Belén Durá, Benito Goitzane Marcaida
Clinical Analyses Department, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.
Pathological Anatomy Department, Consorcio Hospital General Universitario de Valencia, Valencia, Spain.
EJIFCC. 2023 Apr 18;34(1):66-71. eCollection 2023 Apr.
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.
乳糜泻（CD）是一种由遗传易感个体摄入麸质引起的全身性自身免疫性病理状况。尽管其患病率很高，但它仍然是一种诊断不足的疾病，因为很大一部分患有该疾病的个体没有该疾病所描述的典型症状。我们报告一例43岁严重缺铁和乏力的男性病例。我们发现其抗转谷氨酰胺酶和抗肌内膜抗体水平升高、严重的上皮内淋巴细胞增多、胃镜检查为3A Marsh-Oberhuber分级以及存在HLA-DQ2和HLA-DQ8异二聚体。该患者被诊断为乳糜泻，并接受无麸质饮食。19个月后，观察到乳糜泻生物标志物和其他生化参数有所改善。乳糜泻诊断延迟会导致营养缺乏，如缺铁，即使口服铁剂治疗也可能无法改善。在类似的临床表现中，实验室可以推进乳糜泻的诊断。
