Celiac Disease: Screening --Asymptomatic adults, adolescents, and children


General

Grade: I The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of the service. Evidence is lacking, of poor quality, or conflicting, and the balance of benefits and harms cannot be determined. Read the clinical considerations section of USPSTF Recommendation Statement. If the service is offered, patients should understand the uncertainty about the balance of benefits and harms.

Specific Recommendations

The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons.

Frequency of Service

No information available.

Risk Factor Information

persons with family history or other risk factors


Clinical

Patient Population Under Consideration

This recommendation applies to adults, adolescents, and children who do not have signs or symptoms of celiac disease.

Suggestions for Practice Regarding the I Statement

Potential Preventable Burden

Classic celiac disease is associated with symptoms of malabsorption, including diarrhea, abdominal pain, and weight loss. It may also manifest as nonspecific, nongastrointestinal symptoms, including anemia, osteoporosis, chronic fatigue, peripheral neuropathy or ataxia, and short stature.2 Data from the United States suggest that some patients may have symptoms for years before being diagnosed.4Evidence also suggests that celiac disease is associated with excess mortality, intestinal adenocarcinoma, and lymphoma; however, evidence is insufficient as to whether silent, or asymptomatic, disease has the same risk as symptomatic disease.25-7

In 3 US-based studies, the prevalence of laboratory-confirmed celiac disease ranged from 0.40% to 0.95% among adults.1 Some variations in prevalence can be attributed in part to the method used to confirm diagnosis.2 For example, some population-based studies on prevalence rely on serologic testing without histologic confirmation, which may result in false-positive diagnoses and overestimate prevalence. However, in a systematic review of 38 studies from North America and Western Europe, prevalence of celiac disease was similar among studies that included biopsy confirmation (0.15% to 1.90%) and among studies that did not include biopsy confirmation (0.15% to 2.70%).1

Celiac disease affects children, adolescents, and adults. Seroconversion to antibodies associated with celiac disease may occur at any time, and disease progression can take months or years, if it occurs at all. Data suggest that the average age at diagnosis is now in the fourth to sixth decade of life.89 Data are limited on the proportion of persons with silent celiac disease (positive histology findings but no symptoms) or potential celiac disease (positive serology findings but mild or no intestinal damage on biopsy) who later develop symptomatic celiac disease. Three long-term studies of US adults with follow-up ranging from 10 to 45 years reported rates of progression from positive serology findings to clinical diagnosis of celiac disease of 0% to 15%.10-12

Persons at increased risk for celiac disease include those who have a positive family history (eg, a first- or second-degree relative), with an estimated prevalence of 5% to 20%,13 and persons with other autoimmune diseases (eg, type 1 diabetes mellitus, inflammatory luminal gastrointestinal disorders, Down syndrome, Turner syndrome, IgA deficiency, and IgA nephropathy).14 Several specialty societies recommend screening in these populations.15-17 Reported prevalence among racial/ethnic minorities is lower than among non-Hispanic whites.25

Potential Harms

Potential harms of screening for celiac disease in asymptomatic populations include false-positive, inconclusive, or unnecessary serologic test results and biopsies, with possible anxiety or complications from testing. Based on estimated likelihood ratios in the general population,2 the positive predictive value of serologic testing for celiac disease is 12% to 40%, assuming a prevalence of approximately 1%. In a higher-risk population, the positive predictive value is 40% to 80%, depending on the serologic test used and whether the assumed prevalence is 5% or 10%. Some patients with positive serology findings who do not undergo histologic confirmation may make efforts to avoid dietary gluten, which can increase costs and burdens and may result in limitations on quality of life. Limited evidence from 5 long-term follow-up studies (3 studies of patients with positive serology findings; 2 studies of children with biopsy confirmation) has shown that some persons who are diagnosed with celiac disease may never develop symptoms or complications; thus, overdiagnosis is also a potential concern.10-121819

Current Practice

Reliable data on the frequency of screening for celiac disease in asymptomatic persons in clinical practice are not available.20 It is not known how many patients with positive serology findings without biopsy confirmation are treated with a gluten-free diet.

Screening Tests

Screening for celiac disease is typically not performed in average-risk persons.2 The standard method of diagnosing celiac disease in symptomatic persons older than 2 years is the tissue transglutaminase (tTG) IgA test, followed by intestinal biopsy for histologic confirmation.2

Treatment and Interventions

Treatment of celiac disease is lifelong adherence to a gluten-free diet, which reverses disease manifestations in a majority of patients.2

Additional Approaches to Prevention

The National Institute of Diabetes and Digestive and Kidney Diseases provides current, comprehensive, science-based information about the symptoms, diagnosis, and treatment of celiac disease.21


Rationale

Importance

Celiac disease is a multisystem autoimmune disorder in genetically predisposed adults and children that is triggered by dietary gluten. Ingestion of gluten by persons with celiac disease causes immune-mediated inflammatory damage to the small intestine, which can cause gastrointestinal and nongastrointestinal illness. The clinical presentation, severity of symptoms, and natural history of the disease varies and includes asymptomatic (or "silent") celiac disease.

In studies of US populations, the estimated prevalence of celiac disease among adults ranges from 0.40% to 0.95%.1 Prevalence is higher than average among non-Hispanic whites, persons with a family history of celiac disease, and persons with other autoimmune conditions.2

Detection

The USPSTF found inadequate evidence regarding the accuracy of screening tests for celiac disease in asymptomatic populations.

Benefits of Early Detection and Intervention or Treatment

The USPSTF found inadequate evidence on the effectiveness of screening for celiac disease in asymptomatic adults, adolescents, and children with regard to morbidity, mortality, or quality of life. The USPSTF also found inadequate evidence on the effectiveness of targeted screening in persons who are at increased risk for celiac disease (eg, persons with family history or other risk factors).

The USPSTF found inadequate evidence on the effectiveness of treatment of screen-detected, asymptomatic celiac disease to improve morbidity, mortality, or quality of life compared with no treatment or treatment initiated after clinical diagnosis.

Harms of Early Detection and Intervention or Treatment

The USPSTF found inadequate evidence on the harms of screening for or treatment of celiac disease.

USPSTF Assessment

The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons. Evidence is lacking, and the balance of benefits and harms cannot be determined.


Others

Other Considerations   Research Needs and Gaps Studies that randomly assign participants to screening vs no screening and evaluate clinical outcomes are lacking. However, screening studies that target populations at increased risk for celiac disease are likely to be more informative than trials that target the general population, because of the higher prevalence of disease, and should be given higher priority. More information is needed about the accuracy of serologic testing in asymptomatic persons, particularly those with disease risk factors. Treatment studies in screen-detected, asymptomatic persons are also needed to understand the effects of adherence to a gluten-free diet (compared with no dietary intervention), as well as the effects of immediate vs delayed dietary changes (ie, at the time of screen-detected diagnosis vs when symptoms develop). Ideally, studies would report both short-term effects on symptoms and quality of life and long-term outcomes (eg, osteoporotic fractures, cancer, and mortality). As for screening, treatment studies focused on asymptomatic persons at high risk for celiac disease who screen positive would be helpful for developing guidance for this population and may be faster and more efficient to complete than other study designs. More research is needed to better understand the natural history of positive serology in patients without histologic changes or with histologic confirmation but no symptoms. Also, treatment studies should report results stratified according to baseline histologic findings, given current uncertainty about the natural history of celiac disease in persons with mild histologic abnormalities.   Recommendations of Others The American Academy of Family Physicians has concluded that the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons.28 The American College of Gastroenterology recommends that asymptomatic persons with a first-degree relative who has a confirmed diagnosis of celiac disease be considered for testing. Patients with type 1 diabetes mellitus should be tested for celiac disease if there are any digestive symptoms, signs, or laboratory evidence suggestive of celiac disease.15 The National Institute for Health and Care Excellence recommends offering serologic testing to persons with a first-degree relative with celiac disease or persons with type 1 diabetes mellitus or autoimmune thyroid disease on diagnosis. Serologic testing for celiac disease should be considered for persons with any of the following: metabolic bone disorder (reduced bone mineral density or osteomalacia), unexplained neurologic symptoms (particularly peripheral neuropathy or ataxia), unexplained subfertility or recurrent miscarriage, persistently elevated liver enzymes with unknown cause, dental enamel defects, Down syndrome, or Turner syndrome.16 The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition recommends testing for celiac disease in asymptomatic children who have conditions associated with celiac disease (type 1 diabetes mellitus, autoimmune thyroiditis, Down syndrome, Turner syndrome, Williams syndrome, or selective IgA deficiency) or a first-degree relative with celiac disease. It recommends testing these children beginning around age 3 years, provided they have had an adequate gluten-containing diet for at least 1 year prior. It also recommends that asymptomatic, at-risk children with negative serology findings be considered for repeat testing.17


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