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Celiac disease is an autoimmune disease that can occur through the lifespan and is characterized by immune-mediated enteropathy in response to dietary gluten.1 Celiac disease affects at least 1% of the global population. Important risk factors are a first-degree relative with celiac disease, carrying specific genetic variants, presence of other autoimmune conditions (eg, type 1 diabetes, Hashimoto thyroiditis), and certain chromosomal disorders (eg, Down syndrome, Turner syndrome, Williams syndrome).
Typical gastrointestinal symptoms include diarrhea (38%), abdominal discomfort (34%), and weight loss from malabsorption (16%).2 Subjective improvement in symptoms with a gluten-free diet has a poor positive predictive value (PPV) for celiac disease (36%), making objective testing essential. Diagnostic guidelines (Table) recommend performing serologic testing in individuals with symptoms and/or signs suggestive of celiac disease while they are consuming a diet containing gluten, which is present in wheat, barley, and rye. Gluten reduction or removal from the diet impairs the diagnostic accuracy of screening.3-7 For patients already following a gluten-free diet, gluten consumption must be resumed prior to screening. However, there is no consensus for the dose or duration of gluten consumption that should be maintained through second confirmatory tests. Of the 2 most recent guidelines, one does not specify a dose or duration4 and one suggests at least 3 g per day for at least 6 weeks.3
Celiac disease is a chronic autoimmune disease caused by consumption of gluten in people with specific genetic markers. Celiac disease affects about 1% of people worldwide and people can start having symptoms at any age. Individuals at increased risk include those with a first-degree relative who has celiac disease and those with autoimmune diseases (eg, type 1 diabetes or Hashimoto thyroiditis) and certain chromosomal conditions (Down syndrome, Turner syndrome, or Williams syndrome).
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).
PRACTICE CHANGER
CONSIDER A “NO-BIOPSY” APPROACH BY EVALUATING SERUM IMMUNOGLOBULIN (IG) A ANTI-TISSUE TRANSGLUTAMINASE (TTG-IGA) ANTIBODY TITERS IN ADULT PATIENTS WHO PRESENT WITH SYMPTOMS CONCERNING FOR CELIAC DISEASE (CD). AN INCREASE OF ≥ 10 TIMES THE UPPER LIMIT OF NORMAL (ULN) FOR TTG-IGA HAS A POSITIVE PREDICTIVE VALUE (PPV) OF ≥ 95% FOR DIAGNOSING CD WHEN COMPARED WITH ESOPHAGOGASTRODUODENOSCOPY (EGD) WITH DUODENAL BIOPSY—THE CURRENT GOLD STANDARD.
Objective
To investigate why certain at-risk individuals develop celiac disease, we examined the association of proton pump inhibitors (PPI), histamine-2 receptor antagonist (H2RA), and antibiotic prescriptions in the first six months of life with an early childhood diagnosis of celiac disease.
Study design
A retrospective cohort study was performed using the Military Healthcare System (MHS) database. Children with a birth record from October 1, 2001- September 30, 2013, were identified. Outpatient prescription records were queried for antibiotic, PPI, and H2RA prescriptions in the first 6 months of life. Cox proportional hazards regression was used to calculate the hazard ratio (HR) of developing CD based on medication exposure. ICD-9 codes identified children with an outpatient visit for celiac disease.
Results
968,524 children met inclusion criteria with 1,704 cases of celiac in this group. Median follow up for the cohort was about 4.5 years. PPI’s (HR, 2.23; 95% CI, 1.76-2.83), H2RA’s (HR, 1.94 95% CI, 1.67-2.26) and antibiotics (HR 1.14 95%CI 1.02-1.28) were all associated with an increased hazard of celiac disease.
Conclusion
There is an increased risk of developing celiac disease if antibiotics, PPI’s and H2RA’s are prescribed in the first 6 months of life. Our study highlights modifiable factors such as medication stewardship that may change the childhood risk of CD.
This is a summary of a systematic review evaluating the evidence regarding the comparative accuracy (the balance of sensitivity and specificity) and possible adverse consequences (both direct and indirect) of various methods used to diagnose celiac disease. The systematic review included 60 individual studies and 13 previous systematic reviews published from January 1990 through March 2015. The full report, listing all studies and reviews, is available at www.effectivehealthcare.ahrq.gov/celiac-disease. This summary is provided to assist in informed clinical decisionmaking. However, reviews of evidence should not be construed to represent clinical recommendations or guidelines.
