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Celiac Disease

Description

Other Names

Gluten enteropathy

Diagnosis Coding

ICD-10

K90.0, celiac disease

See ICD-10 Celiac Disease for more detail.

Description

Celiac disease (CD) is a chronic genetic disease that features reversible small intestinal mucosal inflammation triggered and perpetuated by dietary exposure to the gliadin peptide contained in gluten. Dermatitis herpetiformis may also occur. The increased prevalence of type I diabetes mellitus, osteoporosis, intestinal lymphoma, autoimmune disease, miscarriage, and infertility in patients with untreated CD and their families suggests common immunogenetic etiologies. Children with Down syndrome, and other syndromes such as Turner and Williams syndromes, have a higher prevalence of CD. Treatment of CD consists of complete dietary elimination of gluten, which is found in wheat, barley, rye, and possibly oats, and monitoring by clinical response (including growth response), serologic marker response, and small intestinal mucosa histologic response.

Prevalence

CD prevalence is estimated to be between 1:150 and 1:300, based on serologic antibody screening, and possibly as high as 1% in Caucasian populations. Estimates may vary depending on the clinical syndrome definition used in the study. [Hill: 2007] [Rodrigues: 2008] [Telega: 2008] [Garampazzi: 2007]

CD is more common in children with: [Hill: 2005] [Ruiz: 2014]
  • Down syndrome (5%-12%)
  • diabetes mellitus type I (8%)
  • Turner syndrome (4.1% to 8.1%)
  • Williams syndrome (8.2% in one study)
  • selective IgA deficiency (2% overall; 1.7% -7.7% of individuals of European origin)
  • dermatitis herpetiformis (10%)

Genetics

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

Prognosis

Complete gluten restriction should result in complete cessation of the inflammatory response and subsequent normal reproductive capability and lifespan. However, complete gluten exclusion is difficult to maintain for a lifetime. Ongoing inflammation, even in the absence of symptoms, causes chronically increased metabolic demands, malabsorption of macro- and micro-nutrients, and increased cell proliferation, with risk of intestinal oncogenesis, particularly small bowel lymphoma.

Roles Of The Medical Home

The Medical Home's key role is to monitor adherence to the diet and to 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 ongoing growth and symptom monitoring.

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

Elson, CO, Editor.
NIH Consensus Statement regarding the diagnosis and treatment of celiac disease.
Gastroenterology. 2004;Volume 128(Issue 4):Pages S1–S9. PubMed abstract / Full Text

Kupper C.
Dietary guidelines and implementation for celiac disease.
Gastroenterology. 2005;128(4 Suppl 1):S121-7. PubMed abstract / Full Text

Cellier C, Green PH, Collin P, Murray J.
ICCE consensus for celiac disease.
Endoscopy. 2005;37(10):1055-9. PubMed abstract / Full Text

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

Helpful Articles

PubMed Search on Celiac Disease in children for last 2 years.

McGowan KE, Castiglione DA, Butzner JD.
The changing face of childhood celiac disease in north america: impact of serological testing.
Pediatrics. 2009;124(6):1572-8. PubMed abstract / Full Text
Discusses the impact of immunoglobulin A endomysial antibody testing on the incidence and clinical presentation of childhood celiac disease.

Hill ID.
Serologic testing for celiac disease: primum non nocere.
J Pediatr. 2007;150(5):453-4. PubMed abstract / Full Text
Commentary regarding screening children with type 1 diabetes mellitus for celiac disease.

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.

Green PH, Cellier C.
Celiac disease.
N Engl J Med. 2007;357(17):1731-43. PubMed abstract / Full Text
Excellent and extensive review article, not focused on children.

Clinical Assessment

Overview

CD 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 CD while on a gluten-free diet may be inconclusive. Generally, the diagnosis is based on positive serology and small bowel histologic changes that meet the Marsh grading criteria. [Oberhuber: 1999] Observation of clinical response to gluten restriction and reintroduction may be useful in cases where serology and histology are equivocal. Once dietary gluten has been restricted, symptoms should resolve, weight gain and growth should resume, endomysial and gliadin IgA antibodies should return to normal, and the intestinal mucosa should normalize with regeneration of the villi, reduction in crypt mitotic activity, and clearance of intraepithelial lymphocytes. Gluten reintroduction should result in recurrence of intestinal inflammation, and disease signs and symptoms, although these manifestations may be insidious and delayed for weeks.

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

Screening

Of Family Members

Though many asymptomatic individuals have positive serologic tests for CD, screening remains controversial. [Catassi: 2008] Consider testing family members, particularly those with suggestive symptoms. [Bardella: 2007] See Celiac Disease Testing for more information.

Presentations

Signs and symptoms of CD may be dramatic, but are more often subtle or insidious in onset. Many individuals present asymptomatically; they are identified as having CD on the basis on positive screening results. [Telega: 2008] [Garampazzi: 2007]

Diagnostic Criteria

Definite diagnosis of CD
History and clinical presentation compatible with CD: [Hill: 2005] [Fasano: 2008] [Fasano: 2001]
  • Serological screening compatible with CD: antigliadin antibody (AGA), deamidated gliadin antibody, tissue transglutaminase (tTG) antibody, anti-endomysial antibody (AEA)
  • Histological findings compatible with CD: villous atrophy with crypt hyperplasia and intraepithelial lymphocytes [Marsh classification]
  • Obvious clinical, serological and histologic response to a gluten-free diet (GFD)
  • Subject >2 years old
  • Rule out other clinical conditions mimicking CD

Differential Diagnosis

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

Pearls & Alerts

Delay testing in malnourished children

Because false positives in children with failure-to-thrive are fairly common, assuring adequate calorie intake should precede testing for CD to avoid unnecessary small bowel biopsies.

Emerging clinical patterns

Evaluation and treatment decisions are made difficult by the silent CD found in relatives of children with CD. [Telega: 2008] [Garampazzi: 2007] [Bardella: 2007]

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]

Autism and celiac disease

Despite claims in the lay literature, there is no link between CD and autism. Children with autism may have CD and vice versa, but no cause-effect relationship exists. [Black: 2002] [Pavone: 1997] [Bushara: 2005]

History & Examination

Family History

Family history may be positive for CD, but presence or lack of a family history should not sway decisions about testing. The likelihood of CD being the cause of the presenting symptoms is greater when there is a family history of:
  • CD 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

Current & Past Medical History

CD 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 introduction of wheat, barley, rye, or oats into the infant's diet. 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
CD 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 ataxia and peripheral neuropathy [Hadjivassiliou: 2003] [Hadjivassiliou: 2003] [Hadjivassiliou: 2006]
Ask about diet problems, weight gain and growth, energy, and symptoms of diarrhea for those already being treated for CD.

Physical Exam

Growth Parameters

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

Skin

dermatitis herpetiformis: symmetric, grouped, small, tense, erythematous, stinging, pruritic papules or vesicles (see Celiac disease: DH pictures).

Mouth/Teeth

Look for dental enamel hypoplasia

Abdomen

abdominal distention

Extremities/Musculoskeletal

clubbing, edema

Testing

Laboratory Testing

For Diagnosis:
  • Children under two: Because capacity to mount a tissue transglutaminase (tTG) IGA response may be low, false negative serology ay occur. Test only if clinically very suspicious. Measure anti-gliadin IgA and IgG and tTG IgA and IgG antibodies if you are prepared to refer for endoscopic confirmation. Some clinicians do not use anti-gliadin antibodies in this age group because of relatively poor predictive values. Chronic diarrhea or malabsorption, including lactose intolerance in children <2 years is an independent indication for endoscopic small bowel biopsy.
  • Children older than two: First test for quantitative IgA - if it is sufficient, then measure anti-tTG IgA; if IgA is not sufficient, measure anti-tTG IgG. To minimize false positive tTG tests, reflexive testing of endomysial antibody is available.

Note that selective IgA deficiency is thought to be prevalent in CD and may cause false negative IgA based serology.) Because false positives serologic tests are fairly common in children with failure to thrive, assuring adequate calorie intake should be considered before testing for CD to avoid unnecessary small bowel biopsies.
For Children with Known CD:
Testing of children with known CD 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

CD 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 ever develop CD, so the predictive value is poor. DQ2 testing is also quite expensive.

Other Testing

Radiologic: Upper gastrointestinal barium study may reveal flocculation or separation of the barium stream with a "wet" appearance, but this is of little diagnostic value.

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 flat.
  • Type IV - total villous atrophy but no inflammation or crypt hyperplasia.

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

Referral to pediatric gastroenterology is important to confirm the diagnosis through small bowel biopsy and to 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 Services below for relevant providers)

Because maintaining dietary restrictions can be very challenging, expert nutritional guidance can be helpful. Children should be referred at periodic intervals for reassessment.

Treatment & Management

Overview

Treatment of CD involves removal of gluten from the diet. Supporting the child and family, promoting adherence to a difficult diet, and referral to an advocacy and education group for continuing education regarding CD are important components of Medical Home care. See Celiac Disease Foundation.

Pearls & Alerts

Non-response to the gluten-free diet

Although a small minority of patients don't 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 processed foods. If the diet is being adhered to, question whether the diagnosis is correct. There is a very small group of patients with gluten enteropathy who don't respond to the gluten-free diet. If this is being considered, a referral to gastroenterology may be helpful.

Oats and celiac disease

Oats may not be tolerated in individuals with CD. This may be due to true intolerance or to the presence of gluten contamination in the oats. Individuals with CD who are introduced to oats in their diet should be monitored carefully. [Rubio-Tapia: 2013]

Systems

Gastro-Intestinal & Bowel Function

Adherence to a gluten-free diet improves 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 CD 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 CD and/or their families must learn to read labels. Cold cuts, soup, candy, soy sauce, and even some medications may contain gluten.
  • With removal of gluten from the diet, healing begins in the small intestine, absorption of nutrients improves, and overall health and growth 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; there are no guidelines. [O'Mahony: 1996]
  • Although there is no way to screen for lymphoma and adenoma, maintain a low threshold for exploring these diagnoses if symptoms present in patients with CD.

Subspecialist Collaborations & Other Resources

Pediatric Gastroenterology (see Services below for relevant providers)

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. (See The Gluten Free Diet Guide (PDF Document 7 KB).) Identification and treatment of initial nutritional deficiencies should be accomplished at the time of diagnosis. Children with CD also need screening and treatment for osteoporosis and deficiencies of iron, calcium, phosphorus, folate, B12, and fat-soluble vitamins. See Celiac Disease (CD). Evidence-Based Nutrition Practice Guideline.

Subspecialist Collaborations & Other Resources

Nutrition Assessment Services (see Services below for relevant providers)

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

Frequently Asked Questions

What causes celiac disease?

To manifest celiac disease, one must have the genetic predisposition, be exposed to gluten, and then be exposed to a poorly understood environmental trigger. Although the exact cause is unknown, you are more likely to manifest celiac disease if you are of Northern European ancestry and have a family member with celiac disease or with another autoimmune disease, such as type 1 diabetes, rheumatoid arthritis, and some kinds of thyroid disease. See Celiac Disease (MedLinePlus).

Is there any problem with putting my child on a gluten-free diet before a biopsy has proven that they have celiac disease?

There are many reasons not to put your child on a gluten-free diet before diagnosis. Perhaps most importantly, a biopsy may be falsely negative if performed when the child is not being exposed to gluten. Also, the gluten-free diet is very restrictive and can be difficult and expensive. Without careful nutritional guidance, children on the diet may not receive all the nutrients they need, particularly some vitamins and other elements that are essential for growth. Some children on the gluten-free diet will become obese if their growth is not closely monitored. Your physician(s) and a nutritionist should be involved in starting and overseeing the diet.

Does the gluten-free diet treat autism?

There is no evidence that the gluten-free diet helps children with autism. [Millward: 2008]

Issues Related to Celiac Disease

Gastro-Intestinal & Bowel Function

Celiac Disease Testing

Resources

Information for Clinicians

Celiac Disease (GeneReviews)
Detailed overview of celiac disease, testing, genetics, resources, reviews, and research; hosted by NCBI (National Center for Biotechnology Information).

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 on Celiac Disease in children for last 2 years.

Green PH, Cellier C.
Celiac disease.
N Engl J Med. 2007;357(17):1731-43. PubMed abstract / Full Text
Excellent and extensive review article, not focused on children.

Hill ID.
Serologic testing for celiac disease: primum non nocere.
J Pediatr. 2007;150(5):453-4. PubMed abstract / Full Text
Commentary regarding screening children with type 1 diabetes mellitus for celiac disease.

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.

McGowan KE, Castiglione DA, Butzner JD.
The changing face of childhood celiac disease in north america: impact of serological testing.
Pediatrics. 2009;124(6):1572-8. PubMed abstract / Full Text
Discusses the impact of immunoglobulin A endomysial antibody testing on the incidence and clinical presentation of childhood celiac disease.

Information & Support for Families

Family Diagnosis Page

Information on the Web

The Portal's page Health Insurance/Financial Aids may be helpful for some families.

Celiac Disease (MedLinePlus)
Brief description of Celiac Disease and links to many reliable sources of information; compiled and maintained by the National Library of Medicine.

Celiac Disease (NDDIC)
General information and links to further sources of information; National Digestive Diseases Information Clearinghouse, National Institutes of Health.

The Gluten Free Diet Guide (PDF Document 7 KB)
Sample list of gluten-free foods; Practical Gasteroenterology.

Celiac Disease Food List (Celiac.com)
Extensive list with links to commercial sources for gluten-free products.

Celiac Sprue (Support) Association
Information about CD, current research and trials, diet, dermatitis herpetiformis, and food labeling. Tips and educational games for children.

Support National & Local

Celiac Disease Foundation
Provides support, information and assistance to people affected by Celiac Disease/Dermatitis Herpetiformis (CD/DH).

Celiac Sprue (Support) Association
Information about CD, current research and trials, diet, dermatitis herpetiformis, and food labeling. Tips and educational games for children.

Studies/Registries

Celiac disease studies (ClinicalTrials.gov)

Services for Patients & Families

Nutrition Assessment Services

See all Nutrition Assessment Services services providers (174) in our database.

Pediatric Gastroenterology

See all Pediatric Gastroenterology services providers (2) in our database.

For other services related to this condition, browse our Services categories or search our database.

Authors

Authors: Lynne M. Kerr, MD, PhD - 1/2014
Daniel Jackson, MD - 10/2013
Content Last Updated: 1/2014

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Relation of childhood gastrointestinal disorders to autism: nested case-control study using data from the UK General Practice Research Database.
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Cellier C, Green PH, Collin P, Murray J.
ICCE consensus for celiac disease.
Endoscopy. 2005;37(10):1055-9. PubMed abstract / Full Text

Elson, CO, Editor.
NIH Consensus Statement regarding the diagnosis and treatment of celiac disease.
Gastroenterology. 2004;Volume 128(Issue 4):Pages S1–S9. PubMed abstract / Full Text

Fasano A, Araya M, Bhatnagar S, Cameron D, Catassi C, Dirks M, Mearin ML, Ortigosa L, Phillips A.
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Celiac disease.
N Engl J Med. 2007;357(17):1731-43. PubMed abstract / Full Text
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Dietary treatment of gluten ataxia.
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Serologic testing for celiac disease: primum non nocere.
J Pediatr. 2007;150(5):453-4. PubMed abstract / Full Text
Commentary regarding screening children with type 1 diabetes mellitus for celiac disease.

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.

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Dietary guidelines and implementation for celiac disease.
Gastroenterology. 2005;128(4 Suppl 1):S121-7. PubMed abstract / Full Text
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The changing face of childhood celiac disease in north america: impact of serological testing.
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Discusses the impact of immunoglobulin A endomysial antibody testing on the incidence and clinical presentation of childhood celiac disease.

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Celiac crisis in the modern era.
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ACG clinical guidelines: diagnosis and management of celiac disease.
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