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Celiac Disease

Overview

Celiac disease is a chronic, genetic, autoimmune disease with reversible small intestinal mucosal damage from chronic inflammation triggered and perpetuated by dietary exposure to the gliadin peptide contained in gluten. While gluten ingestion primarily causes inflammation to the GI tract, it can also cause broader inflammatory conditions, such as chronic skin dermatitis herpetiformis. Celiac disease is typically diagnosed with both positive serology (most often antibodies to tissue transglutaminase mucosal enzyme) and intestinal biopsies. Recent research indicates that serology alone could be sufficient for diagnosis in children. The prevalence of celiac disease is increased in patients with a family history of celiac disease and in type I diabetes mellitus, Hashimoto’s thyroiditis, Trisomy 21 or Down syndrome, Turner and William syndromes.

Treatment of celiac disease requires complete elimination of dietary gluten, which is found in the closely related bread grains wheat, barley, rye, and oats contaminated in the milling process. It is recommended that all newly diagnosed patients meet with a dietitian to learn about label reading and dietary options. Gluten restriction improves malabsorption and related symptoms (diarrhea, distention, gas, pain, iron deficiency, and fatigue), weight gain, and body composition with height acceleration in children. The response can be confirmed by a gradual reduction to normal of IgA serologic markers and small intestinal mucosa histologic recovery. Patients with untreated celiac disease have increased risks of acute and chronic protein-energy malnutrition, micronutrient deficiency, osteopenia, short stature, intestinal lymphoma, autoimmune disease, miscarriage, irritable bowel syndrome, and infertility. Therefore, prompt diagnosis and adherence to gluten-restriction are imperative.

Other Names & Coding

Celiac disease (CD)
Gluten-sensitive enteropathy
ICD-10 coding

K90.0, Celiac disease

See ICD-10 Coding for Celiac Disease (icd10data.com) for more detail.

Prevalence

Prevalence estimates for celiac disease vary according to the clinical syndrome definition used in the study. The prevalence of celiac disease based on serologic antibody screening is between 1 in 150 through 300 and possibly as high as 1% in Caucasian populations. [Ermarth: 2017] [Husby: 2020]

Celiac disease is more common in children with: [Ruiz: 2014] [Ermarth: 2017]
  • Down syndrome (5%-12%)
  • Dermatitis herpetiformis (10%)
  • Williams syndrome (8.2% in one study)
  • Diabetes mellitus type I (8%)
  • Turner syndrome (4.1% to 8.1%)
  • Selective IgA deficiency (2% overall; 1.7% -7.7% of individuals of European origin)

Genetics

While genes confer susceptibility to celiac disease, not all people with the same genes manifest the disease. Susceptibility is associated with HLA genes; the majority of people with celiac disease have DQ2 or DQ8. Symptomatic, first-degree relatives of those with celiac disease have a 1:22 risk of having celiac disease. [Fasano: 2003]

Prognosis

Cessation of gluten exposure to the intestines reduces the inflammatory response with expected full recovery of villi and epithelial function, allowing nutritional recovery, including maturation, normal reproductive system function, and lifespan. Even in the absence of symptoms, ongoing inflammation causes chronically increased metabolic demands, malabsorption of macro- and micro-nutrients, increased risk of other acquired autoimmune diseases, and increased cell proliferation with risk of intestinal oncogenesis, particularly small bowel lymphoma.

Practice Guidelines

Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, Guandalini S, Hoffenberg EJ, Horvath K, Murray JA, Pivor M, Seidman EG.
Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.
J Pediatr Gastroenterol Nutr. 2005;40(1):1-19. PubMed abstract / Full Text

Husby S, Murray JA, Katzka DA.
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Gastroenterology. 2019;156(4):885-889. PubMed abstract / Full Text

Husby S, Koletzko S, Korponay-Szabó I, Kurppa K, Mearin ML, Ribes-Koninckx C, Shamir R, Troncone R, Auricchio R, Castillejo G, Christensen R, Dolinsek J, Gillett P, Hróbjartsson A, Koltai T, Maki M, Nielsen SM, Popp A, Størdal K, Werkstetter K, Wessels M.
European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020.
J Pediatr Gastroenterol Nutr. 2020;70(1):141-156. PubMed abstract

Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA.
ACG clinical guidelines: diagnosis and management of celiac disease.
Am J Gastroenterol. 2013;108(5):656-76; quiz 677. PubMed abstract / Full Text

Roles of the Medical Home

The medical home's key role is to monitor adherence to the diet and reinforce the importance of dietary compliance through continued education. The diet is complicated and coordination of care with an expert nutritionist is recommended. [Browning: 2006] Medical home care also includes monitoring growth and symptoms.

Clinical Assessment

Overview

Celiac disease may present at any age following the introduction of gluten-containing foods into the diet. A definitive diagnosis should be made before beginning a gluten-free diet; testing for celiac disease while on a gluten-free diet will be inconclusive and diagnosis may be missed. Generally, the diagnosis is based on positive serology and small bowel histologic changes that meet the Marsh grading criteria. When serology is equivocal, intestinal biopsies should be obtained for a more definitive diagnosis.

Once dietary gluten has been restricted, symptoms should resolve, weight gain and growth resume, antibodies to tissue transglutaminase IgA, as well as the second-tier endomysial antibodies return to normal, and the intestinal mucosa normalizes with regeneration of the villi, reduction in crypt mitotic activity, and clearance of intraepithelial lymphocytes. Gluten reintroduction should result in recurrence of intestinal inflammation, disease signs, symptoms, and positive serology; however, these manifestations may be insidious and delayed for weeks.

It is important that the diagnosis of celiac disease is made definitively. Individuals who are gluten sensitive but do not have celiac disease will not need the same degree of adherence to the diet, frequency of follow-up visits, or screening of family members. [Rubio-Tapia: 2013]

Pearls & Alerts for Assessment

Non-intestinal presentation for children

Children younger than 24 months have a high false-negative rate for the standard tissue transglutaminase IgA assay. Further, many pediatric patients often do not have common intestinal complaints. Consider celiac disease in children with iron-deficiency anemia, ongoing headache, poorly controlled epilepsy, poor sleep, etc. [Ermarth: 2017] [Rosén: 2014] [Canova: 2020]

False negative IgA levels

False-negative IgA serology occurs in patients with selective IgA deficiency (higher prevalence in celiac disease), as well as with Common Variable Immunodeficency, and some allergic enteropathies or rare diarrheal diseases, such as immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX). These patients will have biopsies consistent with celiac disease but negative serology (especially under age 2), making diagnosis more difficult and will require close care with a pediatric gastroenterologist.

Celiac crisis

Celiac crisis, when gluten exposure causes a severe systemic reaction with hypoalbuminemia and hypoglycemia, occurs rarely. Although steroid treatment may be helpful, there are no published guidelines for management. [Mones: 2007]

No link between celiac disease and autism

Despite some claims, there is no link between celiac disease and autism. Children with autism may have celiac disease and vice versa, but current evidence does not support a cause-effect relationship. [Black: 2002] [Bushara: 2005]

Screening

For the Condition

Some of the genetic conditions that increase a patient’s risk for developing celiac disease include Down syndrome, type I diabetes mellitus, Turner syndrome, and Williams syndrome. It is currently recommended that individuals with Type I diabetes mellitus and Down syndrome have screening every 12 months with anti-TTG IgA serology, or sooner if symptoms develop.

Have a low threshold for celiac testing those with autoimmune conditions, such as juvenile arthritis, Sjogren syndrome, Crohn's disease, and ankylosing spondylitis.

Screening is performed with serologic testing: 1) serum IgA level, 2) antibodies against tissue transglutaminase IgA (TTG IgA) or antibodies against deamidated gliadin peptide (DGP IgA). These tests have the highest sensitivity for detecting disease.

The most specific serology tests include endomysial tissue antibodies (EMA).

Of Family Members

Consider testing family members every 12 months with anti-TTG IgA serology or sooner if symptoms develop.

Presentations

Signs and symptoms of celiac disease can be dramatic, such as diarrhea and acute weight loss, but more often, the signs and symptoms are subtle or insidious at onset.

Diagnostic Criteria

Definite diagnosis of celiac disease
To diagnose celiac disease, patients typically meet 2 criteria:
  1. Serology tests with positive or elevated antibodies against tissue transglutaminase, the related endomysial antigen. False-negative testing rates are reduced by routine concurrent testing for quantitative IgA due to relatively high prevalence of selective IgA deficiency in patients with celiac disease. Those patients with IgA deficiency suspected to have celiac disease may be referred for a screen with IgG antibodies to tTG and deamidated gliadin. Still, positive and negative predictive values are low, so referral for endoscopic duodenal biopsy is required for reliable diagnosis.
  2. Intestinal biopsies revealing villus atrophy +/- epithelial inflammation [Rubio-Tapia: 2013]
Non-biopsy diagnosis
Because of improvements during the last decade in blood testing, European guidelines now allow patients with highly positive serology bloodwork to forego intestinal biopsies if they meet certain criteria. [Husby: 2020] North American studies also have shown that patients can safely forego biopsies if their blood serology test is high (typically ≥10x upper limit of normal for anti-tissue transglutaminase antibodies). [Ermarth: 2017] [Rajani: 2016]

There are some exceptions to this non-biopsy diagnosis, such as children less than 2 years of age or individuals with selective IgA deficiency, in whom the blood tests are not reliable. Parents should always seek advice from their pediatrician or a pediatric gastroenterologist before removing gluten from their child’s diet, which could cause false-negative tests and mask true disease diagnosis.

Differential Diagnosis

  • Cystic fibrosis is an autosomal recessive disorder resulting in dysfunction in exocrine (mucus) glands of the lungs, liver, pancreas, and intestines. The sweat chloride test is positive in cystic fibrosis and negative in children with celiac disease. Gene testing is available.
  • Shwachman syndrome is a malabsorptive syndrome caused by pancreatic insufficiency. Bone marrow hypoplasia and frequent respiratory and skin infections are also observed.
  • Giardiasis is due to infection with Giardia lamblia, a flagellated protozoan parasite. Diagnosed by stool sample.
  • Abetalipoproteinemia / Bassen-Kornzweig syndrome is a rare autosomal recessive disorder that interferes with the absorption of fat and fat-soluble vitamins from food. It is differentiated by the absence of beta-lipoproteins, such as LDL, VLDL, and chylomicrons.
  • Intestinal lymphangiectasia (idiopathic hypoproteinemia) is a disorder in which the lymph vessels draining the lining of the small intestine become enlarged and obstructed. It is differentiated from celiac disease by small-bowel biopsy showing marked dilation/ectasia of the mucosal and submucosal lymphatic vessels. [Vignes: 2008]
  • Crohn's disease is an autoimmune disorder with some hereditary components, leading to inflammation of the small intestine or any part of the digestive system. Crohn's disease usually has symptoms of abdominal pain and rectal bleeding. Celiac disease antibodies aren't elevated in patients with Crohn's disease, and the inflammation doesn't respond to gluten restriction.

History & Examination

Current & Past Medical History

Celiac disease is more common in children with Down syndrome, diabetes mellitus type I, Turner syndrome, Williams syndrome, selective IgA deficiency, and dermatitis herpetiformis. Look for symptoms beginning any time after introducing wheat, barley, rye, or oats into the infant's diet. Symptoms can be mild and insidious and mimic chronic nonspecific abdominal pain of early childhood or irritable bowel syndrome. Common symptoms that are primarily gastrointestinal and growth-related include:
  • Chronic diarrhea
  • Flatulence
  • Distention
  • Weight loss, or failure to gain expected weight
  • Deceleration in linear growth or unexplained short stature
  • Constipation
  • Abdominal pain
  • Indigestion or nausea and/or vomiting
  • Bloating or distention
  • Anorexia
Celiac disease is a multi-system disorder often involving non-gastrointestinal symptoms/signs. These can vary considerably, some being related to secondary nutrient deficiencies, and may include:
  • Unexplained iron deficiency anemia resistant to iron supplementation (a common presenting sign)
  • Delayed puberty, infertility
  • Fatigue
  • Protein-calorie malnutrition
  • Recurrent aphthous stomatitis
  • Defects in dental enamel
  • Vitamin deficiencies
  • Osteoporosis
  • Other autoimmune endocrine disorders, such as thyroiditis
  • Neurological symptoms, including chronic headache, ataxia, and peripheral neuropathy [Hadjivassiliou: 2003] [Hadjivassiliou: 2003] [Hadjivassiliou: 2006]
  • Digital clubbing
Ask about diet problems, weight gain, growth, energy, and symptoms of diarrhea for those already being treated for celiac disease.

Family History

Family history may be positive for celiac disease, but the presence or lack of a family history should not sway testing decisions. The likelihood of celiac disease being the cause of the presenting symptoms is greater when there is a family history of:
  • Celiac disease in first or second-degree relatives
  • Autoimmune thyroiditis or other autoimmune diseases
  • Grain or wheat intolerance
  • Type I diabetes mellitus
  • Short stature
  • Early osteoporosis
  • Miscarriage

Physical Exam

Growth Parameters

Look for low weight for age, low height for age, low weight for height, low BMI, and decelerated linear growth.

Skin

Dermatitis herpetiformis: symmetric, grouped, small, tense, erythematous, stinging, pruritic papules, or vesicles (see Images of Dermatitis Herpetiformis).

Clubbing of the fingers may be seen in celiac patients.

HEENT/Oral

Look for dental enamel hypoplasia.

Abdomen

Abdominal distention

Extremities/Musculoskeletal

Dermatitis herpetiformis, clubbing, edema

Testing

Who should be tested?
  • Any pediatric patient with chronic gastrointestinal symptoms and growth problems, even if mild, that begin after gluten is introduced into their diet should be tested.
  • Children (and adults) with chronic gastrointestinal symptoms, including diarrhea, weight loss, flatulence, fatty stools, abdominal distention, irritable bowel syndrome, and even constipation, should be tested.
  • Initial screening must be done during a diet that includes gluten and before any gluten restriction.
  • Interpretation of testing in children 2 and under is more difficult than in older children.
  • Consider testing also in other individuals with unexplained symptoms, such as short stature, iron deficiency anemia (especially if unresponsive to iron supplementation), delayed puberty, ataxia, chronic headaches, chronic aphthous stomatitis, irritable bowel syndrome, etc.
  • Test all first-degree family members when there has been a positive diagnosis, as many pediatric patients do not exhibit classic symptoms. If negative, re-testing should only be performed if symptoms develop.
  • If results are indeterminate, assessment of the genetic risk by testing for DQ2 and DQ8 HLA haplotypes can be performed. As 97% of the celiac population has 1 or both of these markers, a negative result on both makes it unlikely that the patient has celiac disease. A positive test is unhelpful since up to 60% of the normal population have these HLA haplotypes.

Laboratory Testing

For diagnosis
  • Children younger than 2 years: Because capacity to mount a tissue transglutaminase (tTG) IGA response may be low, false-negative serology may occur. Test only if clinically very suspicious for chronic malabsorption or protein-losing enteropathy.
  • Children older than 2 years: 1) test for quantitative IgA - if normal, then 2) measure anti-tTG IgA; if IgA is not sufficient, measure anti-tTG IgG.
  • To minimize false-positive tTG tests, reflexive testing of endomysial antibody(EMA) is available. One may order an EMA if a non-biopsy diagnosis is sought by the family as additional support of celiac disease. [Wolf: 2017]
Note that selective IgA deficiency is thought to be prevalent in celiac disease and may cause false negative IgA-based serology.

For children with known celiac disease
Testing of children with known celiac disease is as clinically indicated. Individuals who are not maintaining good dietary control may need screening for low albumin or iron deficiency anemia. Repeat celiac serology to assess adherence or completeness of gluten restriction in the diet.

Genetic Testing

Celiac disease is polygenic. Associated genes include the HLA-DQ2 heterodimer in 90% of patients with the condition and the HLA-DQ8 heterodimer in 10%. These markers may have valid negative predictive value if absent in a symptomatic patient. A minority of people with these genotypes never develop celiac disease, so the predictive value is poor. DQ2 testing is also quite expensive.

Other Testing

Radiologic: No diagnostic tests indicated.

Histologic: Definitive diagnosis after serological testing is based on small bowel biopsy and the Oberhuber-modified Marsh Classification: [Oberhuber: 1999]
  • Type I: Normal mucosa infiltrated with intraepithelial lymphocytes >30/100 epithelial cells
  • Type II: Additional feature of elongated or deeper crypts with increased mitoses consistent with crypt hyperplastic response
  • Type III subtypes A-C: Additional features of increasing atrophy of the villi from blunt to total villous atrophy

Specialty Collaborations & Other Services

Pediatric Gastroenterology (see NM providers [1])

Referral is important to confirm the diagnosis through small bowel biopsy and advise on long-term management. If the child is still having symptoms despite management with the gluten-free diet, consider a return consultation with gastroenterology. Updating nutritional information and guidance may be helpful periodically, particularly with developmental changes in the child's dietary habits and interests.

Nutrition Assessment Services (see NM providers [0])

Because maintaining dietary restrictions can be very challenging, expert nutritional guidance is extremely helpful. Children should be referred at periodic intervals for reassessment and to facilitate long-term adherence to the gluten-free diet.

Treatment & Management

Overview

Treatment of celiac disease involves removal of gluten from the diet. Supporting the child and family, promoting adherence to a difficult diet, and referring to an advocacy and education group, such as Celiac Disease Foundation, for continuing education regarding celiac disease are important components of medical home care.

Pearls & Alerts for Treatment & Management

Non-response to the gluten-free diet

Although a minority of patients do not respond to the gluten-free diet, non-responders should be questioned about (intentional or non-intentional) lack of adherence to the diet and the diagnosis should be questioned. Unintentional nonadherence is especially common with increasing consumption of processed foods. Frequent eating out or travel may also indicate a risk for non-intentional exposure. If the diet is being adhered to, question whether the diagnosis is correct. A very small group of patients with gluten enteropathy don't respond to the gluten-free diet or may have an alternative/additional GI diagnosis. If this is being considered, a referral to Pediatric Gastroenterology (see NM providers [1]) may be helpful. A diagnosis of celiac disease in the absence of positive serological testing is especially high risk for misdiagnosis and expert opinion should be sought.

Systems

Gastro-Intestinal & Bowel Function

Adherence to a gluten-free diet improves the quality of life and decreases the likelihood of osteoporosis, intestinal lymphoma, and other associated illnesses. However, because gluten is ubiquitous in the American diet, adherence can require substantial lifestyle changes. Repeating the celiac disease screening serology for IgG and IgA may reveal immunologic reaction to inadvertent or non-compliant gluten exposure.
  • It can be difficult to identify ingredients that contain hidden gluten; sometimes, it becomes necessary to contact food and pharmaceutical manufacturers to be sure.
  • Some food items that appear safe may not be, and children with celiac disease and/or their families must learn to read labels. Cold cuts, soup, candy, soy sauce, other sauces, and even some medications may contain gluten.
  • After removing gluten from the diet, healing begins in the small intestine and absorption of nutrients improves; overall health and growth also should improve. If there is incomplete clinical response, adherence to the diet (due to intentional or unintentional inclusion of gluten) and/or the diagnosis should be questioned. A very small percentage of patients don't respond to the gluten-free diet and should be referred to gastroenterology. Several treatment regimens may be tried for these rare patients, but there are no guidelines.
  • Although there is no way to screen for lymphoma and adenoma, maintain a low threshold for exploring these diagnoses, including specialty referral if symptoms present in patients with celiac disease.

Specialty Collaborations & Other Services

Pediatric Gastroenterology (see NM providers [1])

Periodic visits to help update education on the gluten-free diet and monitor the child's response.

Nutrition/Growth/Bone

A nutritionist can help educate families about approaches to life-long dietary exclusion of foods containing wheat, rye, barley, and possibly oats. Identification and treatment of initial nutritional deficiencies should be accomplished at the time of diagnosis. Children with celiac disease also need screening and treatment for osteoporosis and deficiencies of iron, calcium, phosphorus, folate, B12, and fat-soluble vitamins.

Specialty Collaborations & Other Services

Nutrition Assessment Services (see NM providers [0])

The gluten-free diet is difficult to follow and can be confusing, especially regarding processed foods and medications. Consultation with a nutritionist familiar with celiac disease can be very helpful.

Ask the Specialist

Can we make the diagnosis with only the blood test—do we always have to get an endoscopic diagnosis?

Current European guidelines state that patients who have TTG IgA biopsies >10 x the upper limit of normal (ULN) and concomitant symptoms can forego intestinal biopsies. [Husby: 2020] While North American guidelines do not yet follow this, other North American studies have shown validity of the European guidelines as well. [Ermarth: 2017] [Rajani: 2016] Repeat serology testing is recommended to avoid a false positive serology test.

For a parent or patient considering not having intestinal biopsies, consultation with a gastroenterologist is recommended regardless.

What should I do if my patient is not improving on a gluten-free diet?

If the patient's condition does not improve on a gluten-free diet or their serology has not normalized within 12 months of diagnosis, further consultation with a pediatric gastroenterologist is advised.

Resources for Clinicians

On the Web

Celiac Disease (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular pathogenesis; from the University of Washington and the National Library of Medicine.

Gluten Sensitivity Panel with Reflex to Titers
Provides ordering recommendations, specimen required, interpretive data, and other information; ARUP Laboratory at the University of Utah.

Endomysial Antibodies in Serum (ARUP)
Information about the IIF test performed to detect the presence and levels of circulating IgA and/or IgG endomysial antibodies; ARUP Laboratories.

Helpful Articles

PubMed Search for articles about celiac disease in children published within the last 2 years

Alkalay MJ.
Update on celiac disease.
Curr Opin Pediatr. 2020;32(5):654-660. PubMed abstract

Lebwohl B, Rubio-Tapia A.
Epidemiology, Presentation, and Diagnosis of Celiac Disease.
Gastroenterology. 2020. PubMed abstract

Satherley RM, Coburn SS, Germone M.
The Impact of Celiac Disease on Caregivers' Well-being: An Integrative Review.
J Pediatr Gastroenterol Nutr. 2020;70(3):295-303. PubMed abstract

Resources for Patients & Families

Information on the Web

Celiac Disease (MedLinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Gluten-Free Recipes (celiac.com)
Recipes and food ideas for a gluten-free diet.

National Celiac Association
Information about celiac disease, current research and trials, diet, dermatitis herpetiformis, and food labeling. Tips and educational games for children.

Celiac Disease Foundation
Provides support, information and assistance to people affected by celiac disease/dermatitis herpetiformis.

Studies/Registries

Celiac Disease in Children (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Services for Patients & Families in New Mexico (NM)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Authors & Reviewers

Initial publication: January 2014; last update/revision: January 2021
Current Authors and Reviewers:
Authors: Anna Ermarth, MD, MS
Daniel Jackson, MD
Reviewer: Justine Turner, MD, PhD
Authoring history
2020: update: Anna Ermarth, MD, MSA
2014: first version: Lynne M. Kerr, MD, PhDA; Daniel Jackson, MDR
AAuthor; CAContributing Author; SASenior Author; RReviewer

Bibliography

Alkalay MJ.
Update on celiac disease.
Curr Opin Pediatr. 2020;32(5):654-660. PubMed abstract

Black C, Kaye JA, Jick H.
Relation of childhood gastrointestinal disorders to autism: nested case-control study using data from the UK General Practice Research Database.
BMJ. 2002;325(7361). PubMed abstract / Full Text
Children diagnosed with autism were not more likely to have presented with celiac disease than controls.

Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE.
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Obstet Gynecol. 2006;107(1):115-20. PubMed abstract

Bushara KO.
Neurologic presentation of celiac disease.
Gastroenterology. 2005;128(4 Suppl 1):S92-7. PubMed abstract

Canova C, Ludvigsson J, Barbiellini Amidei C, Zanier L, Zingone F.
The risk of epilepsy in children with celiac disease: a population-based cohort study.
Eur J Neurol. 2020;27(6):1089-1095. PubMed abstract

Ermarth A, Bryce M, Woodward S, Stoddard G, Book L, Jensen MK.
Identification of Pediatric Patients With Celiac Disease Based on Serology and a Classification and Regression Tree Analysis.
Clin Gastroenterol Hepatol. 2017;15(3):396-402.e2. PubMed abstract / Full Text

Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K.
Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study.
Arch Intern Med. 2003;163(3):286-92. PubMed abstract

Hadjivassiliou M, Davies-Jones GA, Sanders DS, Grunewald RA.
Dietary treatment of gluten ataxia.
J Neurol Neurosurg Psychiatry. 2003;74(9):1221-4. PubMed abstract / Full Text

Hadjivassiliou M, Grunewald R, Sharrack B, Sanders D, Lobo A, Williamson C, Woodroofe N, Wood N, Davies-Jones A.
Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics.
Brain. 2003;126(Pt 3):685-91. PubMed abstract

Hadjivassiliou M, Grunewald RA, Kandler RH, Chattopadhyay AK, Jarratt JA, Sanders DS, Sharrack B, Wharton SB, Davies-Jones GA.
Neuropathy associated with gluten sensitivity.
J Neurol Neurosurg Psychiatry. 2006;77(11):1262-6. PubMed abstract

Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, Guandalini S, Hoffenberg EJ, Horvath K, Murray JA, Pivor M, Seidman EG.
Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition.
J Pediatr Gastroenterol Nutr. 2005;40(1):1-19. PubMed abstract / Full Text
Recommendations for the diagnosis and treatment of celiac disease in children from the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.

Husby S, Koletzko S, Korponay-Szabó I, Kurppa K, Mearin ML, Ribes-Koninckx C, Shamir R, Troncone R, Auricchio R, Castillejo G, Christensen R, Dolinsek J, Gillett P, Hróbjartsson A, Koltai T, Maki M, Nielsen SM, Popp A, Størdal K, Werkstetter K, Wessels M.
European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020.
J Pediatr Gastroenterol Nutr. 2020;70(1):141-156. PubMed abstract

Husby S, Murray JA, Katzka DA.
AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review.
Gastroenterology. 2019;156(4):885-889. PubMed abstract / Full Text

Lebwohl B, Rubio-Tapia A.
Epidemiology, Presentation, and Diagnosis of Celiac Disease.
Gastroenterology. 2020. PubMed abstract

Mones RL, Atienza KV, Youssef NN, Verga B, Mercer GO, Rosh JR.
Celiac crisis in the modern era.
J Pediatr Gastroenterol Nutr. 2007;45(4):480-3. PubMed abstract

Oberhuber G, Granditsch G, Vogelsang H.
The histopathology of coeliac disease: time for a standardized report scheme for pathologists.
Eur J Gastroenterol Hepatol. 1999;11(10):1185-94. PubMed abstract

Rajani S, Huynh HQ, Shirton L, Kluthe C, Spady D, Prosser C, Meddings J, Rempel GR, Persad R, Turner JM.
A Canadian Study toward Changing Local Practice in the Diagnosis of Pediatric Celiac Disease.
Can J Gastroenterol Hepatol. 2016;2016:6234160. PubMed abstract / Full Text

Rosén A, Sandström O, Carlsson A, Högberg L, Olén O, Stenlund H, Ivarsson A.
Usefulness of symptoms to screen for celiac disease.
Pediatrics. 2014;133(2):211-8. PubMed abstract

Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA.
ACG clinical guidelines: diagnosis and management of celiac disease.
Am J Gastroenterol. 2013;108(5):656-76; quiz 677. PubMed abstract / Full Text

Ruiz AR.
Celiac Disease.
The Merck Manual Home Health Handbook; (2014) http://www.merckmanuals.com/home/digestive_disorders/malabsorption/cel.... Accessed on 11/5/2020.
Last updated 2019

Satherley RM, Coburn SS, Germone M.
The Impact of Celiac Disease on Caregivers' Well-being: An Integrative Review.
J Pediatr Gastroenterol Nutr. 2020;70(3):295-303. PubMed abstract

Vignes S, Bellanger J.
Primary intestinal lymphangiectasia (Waldmann's disease).
Orphanet J Rare Dis. 2008;3:5. PubMed abstract / Full Text

Wolf J, Petroff D, Richter T, Auth MKH, Uhlig HH, Laass MW, Lauenstein P, Krahl A, Händel N, de Laffolie J, Hauer AC, Kehler T, Flemming G, Schmidt F, Rodrigues A, Hasenclever D, Mothes T.
Validation of Antibody-Based Strategies for Diagnosis of Pediatric Celiac Disease Without Biopsy.
Gastroenterology. 2017;153(2):410-419.e17. PubMed abstract