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Celiac disease, a common autoimmune condition affecting approximately 1% of the population, can develop with exposure to gluten at any age. Diagnosis involves serologic testing, especially for IgA antibodies against tissue transglutaminase, and may include tests to confirm the presence of endomysial antibodies or even duodenal biopsies, although the latter are becoming less necessary. The presence of genes encoding HLA-DQ2 or HLA-DQ8 is a prerequisite for the disease. A gluten-free diet is the mainstay of treatment, but some adults have nonresponsive celiac disease, which warrants closer monitoring because of an increased risk of malignant conditions. Celiac disease also frequently co-occurs with other autoimmune disorders, such as type 1 diabetes mellitus and autoimmune thyroid disease.
Celiac disease is frequently undiagnosed, in part because of its highly variable clinical presentation.
Celiac disease can present with classic gastrointestinal symptoms (e.g., diarrhea, abdominal pain, bloating, weight loss), atypical or extraintestinal manifestations (e.g., anemia, osteoporosis, neurologic symptoms, infertility, fatigue) or asymptomatic presentations detected from screening.
The first-line serologic screening test measures tissue transglutaminase immunoglobulin A and should be conducted while the patient is consuming gluten.
Complications of celiac disease include nutritional deficiencies, osteoporosis, increased risk of viral infections and pneumonia, and, rarely, risk of malignancy.
Adherence to a lifelong, strict gluten-free diet with regular monitoring of disease activity and nutritional status is key for symptom management and to prevent complications.
Guideline title American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease
Release date January 2023
Prior version May 2013
Developer and funding source American College of Gastroenterology
Target population Children and adults with celiac disease
Selected recommendations
Screening for celiac disease in asymptomatic people in the general population is not recommended (strong recommendation; low quality of evidence).
Upper endoscopy with multiple (≥4) duodenal biopsies is recommended for diagnostic confirmation in both children and adults who have characteristic signs and symptoms of celiac disease (strong recommendation; moderate quality of evidence).
In symptomatic children, a blood test with high-level tissue transglutaminase antibody (tTG) IgA (>10 times the upper limit of normal) and presence of endomysial antibody (EMA) in a second blood sample are suggested for diagnosis of celiac disease. In symptomatic adults who are unwilling or unable to undergo upper endoscopy, high-level tTG IgA and presence of EMA can be used to establish a diagnosis of likely celiac disease (conditional recommendation; moderate quality of evidence).
A gluten-free diet is required (strong recommendation; moderate quality of evidence) to achieve the treatment goal of resolution of histologic mucosal lesions in adults (conditional recommendation; low quality of evidence).
