Celiac disease affects over three million Americans. Early diagnosis and dietary modification are required to prevent irreversible intestinal damage and health complications associated with this autoimmune gastrointestinal (GI) condition. Unfortunately, up to 80% of Americans with CD are currently undiagnosed. This calls for increased awareness, education, and screening efforts to identify individuals at risk for celiac disease and initiate therapeutic interventions. (4)
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What Is Celiac Disease?
Celiac disease (CD) is a chronic autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. When individuals with CD consume gluten, their immune system responds by attacking villi in the small intestine, which are small finger-like projections responsible for nutrient absorption. Over time, this inflammatory immune reaction damages the villi, leading to malabsorption of nutrients, GI symptoms, and potentially systemic complications.
Despite presenting with similar symptoms, CD is a distinct medical condition from wheat allergy or gluten sensitivity. In wheat allergy, exposure to wheat triggers an allergic reaction characterized by the immune system's production of immunoglobulin E (IgE) antibodies. Gluten sensitivity, or non-celiac gluten sensitivity (NCGS), refers to a condition where individuals experience CD-like symptoms when consuming gluten but without the autoimmune response or intestinal damage characteristic of CD.
Celiac Disease Signs & Symptoms
The hallmark symptoms of CD typically involve GI manifestations, such as:
- Chronic diarrhea
- Constipation
- Abdominal pain
- Gas
- Bloating
- Nausea and vomiting
- Lactose intolerance
- Weight loss despite adequate food intake
- Nutrient malabsorption, leading to steatorrhea (fatty stool) and nutrient deficiencies
However, CD is often called a "clinical chameleon" because it can present with a wide range of symptoms affecting various body systems beyond the GI tract. Over 250 symptoms have been associated with CD, often making it challenging to diagnose. These symptoms can include:
- Fatigue and weakness
- Dermatitis herpetiformis (a chronic skin rash)
- Neurological symptoms, such as headaches, numbness/tingling, or seizures
- Joint pain and inflammation
- Infertility or recurrent miscarriages
- Irregular menstrual periods
- Dental enamel defects
- Mouth sores
- Mental health problems, such as depression and anxiety
- Short stature or delayed growth in children
Root Causes of Celiac Disease
Genetically, CD is strongly associated with specific human leukocyte antigen (HLA) genes, particularly HLA-DQ2 and HLA-DQ8. These genes encode proteins that play roles in the immune system's ability to recognize and respond to foreign substances. The presence of either the HLA-DQ2 or HLA-DQ8 gene strongly increases the risk of developing the condition.
Despite the important genetic component of disease development, only about 3% of HLA carriers will develop CD, underlying the importance of how environmental factors interact with genes to "turn on" gluten-related autoimmunity.
Increasing evidence suggests that the intestinal microbiota influences intestinal immune regulation and homeostasis. Distinct dysbiotic patterns have been observed in patients with CD compared to healthy controls, suggesting that dysbiosis is involved in the pathogenesis of the disease. Frequent GI infections during childhood appear to increase the risk of CD later in life. Other environmental factors, such as antibiotic use, poor diet and sleep patterns, chronic stress, regular alcohol consumption, and smoking, can all perpetuate dysbiosis, exacerbating immune dysregulation and inflammation.
How to Diagnose Celiac Disease
CD is diagnosed using a combination of blood tests, small intestinal biopsy, and a gluten-free diet. The diagnostic process is explained below:
Step 1: Celiac Antibody Testing
The American College of Gastroenterology (ACG) recommends that serum tissue transglutaminase IgA (tTG IgA) antibodies be measured with total IgA in patients eating a gluten-containing diet as a first-line screening for CD. IgA deficiency is 10-15 times more common in patients with CD than in the general population. Deaminated gliadin peptide (DGP) IgG can be measured in patients with IgA deficiency. Although not recommended by standard guidelines, many doctors will order a comprehensive celiac antibody panel, including tTG, DGP, and endomysial IgA and IgG antibodies, to increase testing accuracy.
The accuracy of serologic celiac antibody testing depends on the patient eating a gluten-containing diet. For patients on a gluten-free diet, your doctor may recommend a gluten challenge prior to testing. A gluten challenge typically consists of eating one to two servings of gluten for 6-8 weeks before testing.
Genetic testing for the HLA DQ2 and DQ8 variants is also available. This test is especially valuable for patients who have already begun a gluten-free diet before evaluation and cannot perform the pre-test gluten challenge. (41)
Examples of serologic celiac tests include:
- Tissue Transglutaminase IgA by Access Med Labs
- Celiac & Gluten Sensitivity by Doctor's Data
- Celiac Panel by US BioTek
- Celiac Profile by Genova Diagnostics
- Celiac, IBS, and Crohn's Assay (CICA) by Cell Science Systems
Step 2: Upper Endoscopy
Patients with positive serologic tests should be referred for endoscopy and small bowel biopsy. Histopathologic findings diagnostic for CD include lymphocytic infiltration and villous atrophy (39, 41). The Marsh classification system, ranging from Marsh 0 to Marsh 3C, is commonly used to describe the histological changes observed in CD.
Step 3: General Health Screening
Additional tests help personalize effective treatment plans that target the root cause of disease, screen for comorbid conditions associated with CD, and monitor patient progress over time.
Compared to healthy controls, patients with CD have an increased risk of nutrient malabsorption, anemia, lactose intolerance, reduced bone density, concomitant autoimmune disease, and intestinal dysbiosis (specifically, reductions in Lactobacillus and Bifidobacterium and increased abundance of Bacteroides and E. coli).
The following tests can screen for and assess these risks:
- Complete blood count (CBC)
- Comprehensive metabolic panel (CMP)
- Thyroid panel
- Lactose intolerance breath test
- Micronutrient test
- Array 5 by Cyrex Laboratories
- Comprehensive stool analysis
- DEXA scan
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Treatment Plan for Celiac Disease
Once patients have been diagnosed with CD, they can embark on their journey towards wellness. The step-by-step outline can be used as a starting point and customized according to the patient's needs.
1. Gluten-Free Diet
Here's Why This Is Important:
Strict, life-long adherence to a gluten-free diet (GFD) is the cornerstone of CD management because the ingestion of gluten worsens clinical symptoms, perpetuates intestinal damage, and increases the risk of health complications. The GFD reverses disease manifestations and improves the quality of life in CD patients. Approximately 95% of patients begin to show clinical improvement within days to weeks of starting the GFD. (2)
How Do You Do This?
The GFD completely eliminates foods, beverages, and cosmetic products that contain gluten or have been prepared/manufactured on common surfaces with gluten-containing foods.
These guidelines highlight the principles of the GFD:
- Eat Freely: fruits, vegetables, legumes, seeds, nuts, eggs, lean meat, fish, poultry, dairy (unless lactose intolerant)
- Safe Grains, Starches, and Flours: amaranth, arrowroot, buckwheat, corn, flax, millet, oats, potato, quinoa, rice, sorghum, soy, tapioca, teff
- Grains to Avoid: barely (includes malt), rye, wheat (includes kamut, semolina, spelt, and triticale)
- Look for the "Certified Gluten-Free" label on packaged foods and commercial products to prevent cross-contamination and ensure safety
A Note on Oats
Even though oats are naturally gluten-free, a small portion of people with CD still react to them because a protein called avenin can trigger a similar immune response. People eating oats on a GFD who are not responding as expected should be encouraged to proceed with a 4-6 week oat elimination to test for an avenin sensitivity. (11)
2. Support Gut Healing
Here's Why This Is Important:
Despite adherence to a GFD, complete histological recovery of the small intestine may take years, and some individuals may experience persistent symptoms related to ongoing mucosal inflammation.
How Do You Do This?
Interventions such as nutritional supplementation, probiotics, and anti-inflammatory agents may help expedite mucosal healing, alleviate CD symptoms, and support overall gut health during recovery.
Lactobacillus and Bifidobacterium probiotics exert protective properties on epithelial cells and support the digestion of gluten proteins. VSL#3® is a high-dose, medical-grade probiotic containing eight bacterial strains. Evidence shows that this probiotic combination digests gluten proteins, improves intestinal barrier function, balances microfloral composition, and modulates immune function (3, 10).
Demulcent and vulnerary herbs, such as slippery elm, licorice, marshmallow root, and aloe vera, are nutritive and soothing to inflamed tissues. They create a gel-like substance to protect mucous membranes and promote cellular repair.
3. Address Deficiencies
Here's Why This Is Important:
Micronutrient deficiencies, especially iron, folic acid, vitamin B12, vitamin D, zinc, and magnesium, are common in patients with CD. Left untreated, these deficiencies impede intestinal healing and can cause extraintestinal symptoms commonly experienced by patients, such as fatigue, neuropathy, reduced bone density, and mood changes. (25)
How Do You Do This?
Patient education should encompass dietary recommendations that emphasize the incorporation of a diverse range of whole, unprocessed foods to prevent nutritional deficiencies.
If patients are not getting sufficient vitamins and minerals from their normal diet, supplementation will be required to restore and maintain optimal nutritional status.
4. Manage Accidental Gluten Exposure
Here's Why This Is Important:
Research indicates that many individuals following a GFD may regularly consume sufficient amounts of gluten to trigger symptoms and intestinal damage.
How Do You Do This?
Novel enzymatic therapies are emerging to support gluten degradation in the stomach before it passes into the small intestine. Taking these gluten-specific digestive enzymes may help prevent damage from accidental gluten exposure in CD patients. (1, 48)
The Risks of Untreated Celiac Disease
When CD goes undiagnosed and untreated, it is associated with an increased risk of serious complications, including:
- Malnutrition
- Gallbladder and liver diseases
- Development of other autoimmune diseases
- Osteoporosis
- Infertility
- Epilepsy
- Heart disease
- Small bowel cancer
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Key Takeaways:
- Celiac disease is an inflammatory GI condition caused by an autoimmune reaction to gluten exposure in genetically susceptible individuals that can be difficult to diagnose given its variable clinical presentations.
- Increased awareness and screening of at-risk or symptomatic individuals are essential for the early detection of disease to prevent serious and chronic health complications that can occur as a result of untreated CD.
- A thorough diagnostic evaluation and comprehensive treatment protocol can expedite accurate diagnosis, reduce intestinal inflammation, and prevent irreversible small intestinal damage in affected individuals.
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