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Am Fam Physician. 2022;106(1):36-43

Patient information: See related handout on celiac disease, written by the authors of this article.

This clinical content conforms to AAFP criteria for CME.

Author disclosure: No relevant financial relationships.

Celiac disease is an immune-mediated, multisystem disorder that affects genetically susceptible individuals who are exposed to gluten-containing grains such as wheat, barley, and rye. The condition can develop at any age. Celiac disease presents with a variety of manifestations such as diarrhea, weight loss, abdominal pain, bloating, malabsorption, and failure to thrive. Most adult patients will present with nonclassic symptoms, including less specific gastrointestinal symptoms or extraintestinal manifestations such as anemia, osteoporosis, transaminitis, and recurrent miscarriage. Immunoglobulin A tissue transglutaminase serologic testing is the recommended initial screening for all age groups. Esophagogastroduodenoscopy with small bowel biopsy is recommended to confirm the diagnosis in most patients, including those with a negative serologic test for whom clinical suspicion of celiac disease persists. Biopsies may be avoided in children with high immunoglobulin A tissue transglutaminase (i.e., 10 times the upper limit of normal or more) and a positive test for immunoglobulin A endomysial antibodies in a second serum sample. Genetic testing for human leukocyte antigen alleles DQ2 or DQ8 may be performed in select cases. A gluten-free diet for life is the primary treatment, and patients may benefit from support groups and education on common and hidden sources of gluten, gluten-free substitutes, food labeling, balanced meal planning, dining out, dining during travel, and avoiding cross-contamination. Patients with celiac disease who do not respond to a gluten-free diet should have the accuracy of the diagnosis confirmed, have their diet reassessed, and be evaluated for coexisting conditions. Patients with refractory celiac disease should be treated by a gastroenterologist.

Celiac disease is an immune-mediated, multi-system disorder affecting genetically susceptible individuals exposed to gluten-containing grains (i.e., wheat, barley, and rye).1 The global prevalence is increasing, with the pooled prevalence of celiac disease identified at 0.7% for cases confirmed by biopsy and 1.4% for seroprevalence.2 The prevalence is higher in women than men (0.6% vs. 0.4%; P < .001), although this could be because of underdiagnosis in men.24 According to data from the National Health and Nutrition Examination Survey, the prevalence of celiac disease in the United States varies between racial and ethnic groups, with a seroprevalence of 0.2% in non-Hispanic Black people, 0.3% in Hispanic people, and 1% in White people.46 Celiac disease may present with a variety of manifestations, can develop at any age, and is associated with a small increase in mortality risk.710 This article presents evidence-based answers to common questions about the evaluation and management of celiac disease.

What Are Risk Factors for Celiac Disease?

The etiology of celiac disease involves a complex interaction between genetic and environmental factors, including exposure to gluten.1,11

EVIDENCE SUMMARY

The presence of human leukocyte antigen (HLA) alleles DQ2 and DQ8 is the most important genetic risk factor for celiac disease. Although testing for HLA alleles DQ2 and DQ8 is not routinely used in the initial diagnosis, a negative test for both essentially rules out celiac disease with a negative predictive value of more than 99%.11,12 First-degree relatives of a person with celiac disease, and to a lesser extent second-degree relatives, are at increased risk.1,11 Monozygous twins have the highest risk, followed by siblings, parents, and children of patients with celiac disease.11 Other populations at risk of celiac disease are identified in Table 1.13

GroupPercentage (%) affected
First-degree relatives of a person with celiac disease10
Second-degree relatives of a person with celiac disease3 to 6
People with the following conditions
Down syndrome8
Williams syndrome8
Turner syndrome6
Autoimmune thyroid disorders3
Immunoglobulin A deficiency2 to 8
Type 1 diabetes mellitus2 to 5 in adults
3 to 8 in children
General population1

Recent randomized multicenter trials of genetically at-risk infants demonstrated that breastfeeding and delaying gluten introduction did not change the risk of disease.14,15 However, a prospective cohort study showed that the amount of gluten consumed by genetically predisposed children during the first five years of life resulted in a statistically significant increased risk of celiac disease seropositivity (hazard ratio = 1.30; 95% CI, 1.22 to 1.30; P < .001) and celiac disease (hazard ratio = 1.50; 95% CI, 1.35 to 1.66; P < .001).16

How Do Patients With Celiac Disease Typically Present?

The signs and symptoms of celiac disease are heterogeneous with gastrointestinal and extraintestinal manifestations. Many patients are minimally symptomatic or asymptomatic.1,11,17

EVIDENCE SUMMARY

The clinical presentation of celiac disease is varied (Table 2).1,11,17,18 The classic symptoms of diarrhea, abdominal pain, bloating, weight loss, malabsorption, and failure to thrive in patients at any age should prompt an evaluation for celiac disease.1,9,16 One of the most common gastrointestinal symptoms at presentation is diarrhea, particularly in adults. Other common gastrointestinal symptoms include bloating, aphthous stomatitis, alternating bowel habits, constipation, and gastroesophageal reflux disease.18

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