Celiac disease-related conditions: Who to test?

Celiac disease (CeD) is a chronic immune-mediated condition triggered by gluten consumption in genetically predisposed individuals. Approximately 1% of the general population is affected by the disorder. Disease presentation is heterogeneous, and despite growing awareness among physicians and the public, it continues to be underestimated. The most effective strategy for identifying undiagnosed CeD is proactive case-finding through serologic testing in high-risk groups. We reviewed the most recent evidence on the association between CeD and over 20 conditions. In light of this review, CeD screening is recommended in individuals with (I) autoimmune disease and accompanying symptoms suggestive of CeD, (II) diseases that may mimic CeD (e.g., irritable bowel syndrome, inflammatory bowel disease, and microscopic colitis), and among patients with (III) conditions with a high CeD prevalence: first-degree relatives, idiopathic pancreatitis, unexplained liver enzyme abnormalities, autoimmune hepatitis, primary biliary cholangitis, hyposplenism or functional asplenia with severe bacterial infection, type 1 diabetes mellitus, Hashimoto's thyroiditis and Grave's disease, Sjögren's syndrome, dermatitis herpetiformis, recurrent aphthous syndrome and enamel defects, unexplained ataxia, peripheral neuropathy, delayed menarche or premature menopause, Down syndrome, Turner syndrome, Williams syndrome, chronic fatigue syndrome, IgA nephropathy, and IgA deficiency. CeD serology should be the initial step in the screening process. However, for patients with any of the aforementioned disorders who are undergoing upper endoscopy, biopsies should be performed to rule out CeD.