Celiac Disease Diagnosis & Treatment in Dallas, TX

What Is Celiac Disease?

Celiac disease is a chronic autoimmune disorder in which ingestion of gluten — a protein found in wheat, barley, and rye — triggers an immune response that damages the lining of the small intestine. Specifically, the immune system attacks the villi, the tiny finger-like projections that line the small intestine and are responsible for absorbing nutrients from food. Over time, this villous atrophy severely impairs the body's ability to absorb essential vitamins, minerals, and other nutrients, leading to malnutrition even when a person is eating an adequate diet.

According to the Celiac Disease Foundation, celiac disease affects approximately 1 in 100 people worldwide, and an estimated 2.5 million Americans remain undiagnosed. The condition can develop at any age in genetically predisposed individuals who carry the HLA-DQ2 or HLA-DQ8 genes. While these genes are necessary for celiac disease to develop, they are not sufficient on their own — approximately 30 to 40 percent of the general population carries one or both of these genes, but only a small fraction develops the disease. Environmental factors such as the timing of gluten introduction in infancy, gastrointestinal infections, and other stressors may play a role in triggering the condition.

At Texas Gut Health in Sachse, TX, Dr. Jaison John provides expert diagnosis and management of celiac disease for patients throughout the Dallas-Fort Worth area. Dr. John completed his gastroenterology fellowship at UT Medical Branch, where he served as Chief Fellow, and his internal medicine residency at UT Austin Dell Medical School, where he served as Chief Resident. He holds dual board certifications from the American Board of Internal Medicine in both internal medicine and gastroenterology.

Symptoms of Celiac Disease

Celiac disease is often called the "great mimicker" because its symptoms can vary widely from person to person and overlap with many other conditions. Some patients experience primarily gastrointestinal symptoms, while others present with symptoms that affect other parts of the body entirely. A significant number of people with celiac disease have few or no noticeable symptoms, which is one reason the condition is so frequently underdiagnosed.

Gastrointestinal Symptoms

The classic presentation of celiac disease involves symptoms related to the digestive system, including:

• Chronic diarrhea — Frequent, loose, watery stools are one of the most common symptoms, particularly in children. In adults, diarrhea may be less prominent, and some patients experience constipation instead.
• Abdominal bloating and distension — A persistent feeling of fullness, swelling, or tightness in the abdomen is reported by the majority of patients with active celiac disease.
• Abdominal pain and cramping — Recurrent abdominal discomfort, often described as cramping or a gnawing sensation, is common and may be mistaken for irritable bowel syndrome (IBS).
• Gas and flatulence — Excessive gas production due to malabsorption of carbohydrates in the damaged small intestine.
• Nausea and vomiting — Some patients experience nausea, particularly after eating gluten-containing foods.
• Fatty, foul-smelling stools (steatorrhea) — When fat absorption is impaired, stools may appear pale, bulky, and oily, and may float or be difficult to flush.
• Weight loss — Unintended weight loss due to malabsorption of calories and nutrients. However, celiac disease can occur in individuals of any body weight, including those who are overweight or obese.

Extraintestinal Symptoms

Many adults with celiac disease present with symptoms outside the digestive tract, which can make diagnosis more challenging. These extraintestinal manifestations include:

• Iron-deficiency anemia — One of the most common presentations of celiac disease in adults. Iron is absorbed in the duodenum, the very segment of the small intestine most affected by celiac disease.
• Fatigue and weakness — Chronic fatigue is extremely common and may result from anemia, nutritional deficiencies, or the systemic inflammatory response.
• Bone and joint pain — Calcium and vitamin D malabsorption can lead to decreased bone density (osteopenia or osteoporosis), increasing fracture risk.
• Dermatitis herpetiformis — An intensely itchy, blistering skin rash that typically appears on the elbows, knees, buttocks, and scalp. This rash is considered pathognomonic (uniquely characteristic) of celiac disease.
• Mouth ulcers (aphthous stomatitis) — Recurrent canker sores that do not respond to conventional treatment.
• Neurological symptoms — Peripheral neuropathy (numbness or tingling in the hands and feet), headaches, balance problems (ataxia), and cognitive difficulties sometimes called "brain fog."
• Reproductive issues — Unexplained infertility, recurrent miscarriage, delayed puberty, and irregular menstrual periods have all been associated with untreated celiac disease.
• Dental enamel defects — Pitting, discoloration, or other defects in tooth enamel, particularly in children.
• Mood changes — Anxiety, depression, and irritability may occur, particularly in untreated or newly diagnosed patients.

Research published in the American Journal of Gastroenterology has shown that the average time from symptom onset to diagnosis of celiac disease in the United States is 6 to 10 years, underscoring the importance of awareness and appropriate testing.

How Celiac Disease Is Diagnosed

An accurate diagnosis of celiac disease requires a systematic approach that combines serologic (blood) testing with histologic (tissue) confirmation. It is critically important that patients continue to eat gluten-containing foods during the diagnostic process, as eliminating gluten before testing can produce false-negative results and delay diagnosis.

Step 1: Serologic Testing

The first step in evaluating for celiac disease is a blood test. The American College of Gastroenterology (ACG) recommends the following initial tests:

• Tissue transglutaminase IgA (tTG-IgA) — This is the single most sensitive and specific blood test for celiac disease, with a sensitivity and specificity of approximately 95 to 98 percent. It is the preferred initial screening test recommended by the ACG.
• Total serum IgA level — Approximately 2 to 3 percent of celiac disease patients have selective IgA deficiency, which can cause a false-negative tTG-IgA result. Measuring total IgA helps identify these individuals.
• Deamidated gliadin peptide IgG (DGP-IgG) — This test is used as an alternative or supplement in patients with IgA deficiency or when tTG-IgA results are inconclusive.

If serologic testing is positive, the next step is endoscopic confirmation.

Step 2: Upper Endoscopy with Biopsy

The gold standard for confirming a diagnosis of celiac disease is an upper endoscopy (EGD) with biopsies of the duodenum (the first part of the small intestine). During this procedure, Dr. John passes a flexible, lighted scope through the mouth and into the small intestine, where he takes multiple small tissue samples from different areas of the duodenum.

The ACG recommends obtaining at least four to six biopsy specimens from the duodenum, including samples from the duodenal bulb, because the distribution of damage can be patchy. The biopsies are examined under a microscope by a pathologist who looks for the hallmark features of celiac disease:

• Villous atrophy — Flattening or blunting of the intestinal villi, which reduces the surface area available for nutrient absorption.
• Crypt hyperplasia — Elongation of the intestinal crypts as the body attempts to compensate for the loss of villi.
• Intraepithelial lymphocytosis — An increased number of immune cells (lymphocytes) within the lining of the intestine, indicating an active immune response.

The severity of these changes is graded using the Marsh classification system, which ranges from Marsh 0 (normal) to Marsh 3c (total villous atrophy). A Marsh 2 or Marsh 3 finding in the setting of positive serology confirms the diagnosis of celiac disease.

Genetic Testing

HLA-DQ2 and HLA-DQ8 genetic testing can be useful in certain clinical scenarios, particularly when the diagnosis is uncertain. Virtually all patients with celiac disease carry one or both of these genetic markers. While a positive genetic test does not diagnose celiac disease (since these genes are common in the general population), a negative result effectively rules it out, as celiac disease is exceedingly rare in individuals who lack both HLA-DQ2 and HLA-DQ8.

Treatment and Management

The only effective treatment for celiac disease is a strict, lifelong gluten-free diet. There are currently no medications approved by the FDA that treat celiac disease, although several are in clinical trials. When gluten is completely removed from the diet, the small intestinal lining typically begins to heal, symptoms improve, and the risk of long-term complications decreases significantly.

The Gluten-Free Diet

A gluten-free diet requires the complete elimination of all foods and products containing wheat, barley, rye, and their derivatives. This includes obvious sources such as bread, pasta, cereal, and baked goods, as well as less obvious sources such as sauces, dressings, soups, processed meats, beer, and even some medications and supplements that use gluten-containing fillers.

Key principles of a successful gluten-free diet include:

• Reading labels carefully — The FDA requires foods labeled "gluten-free" to contain fewer than 20 parts per million (ppm) of gluten, a threshold that has been shown to be safe for the vast majority of celiac patients.
• Avoiding cross-contamination — Even trace amounts of gluten can trigger an immune response and intestinal damage. Shared cooking surfaces, utensils, toasters, and deep fryers can be sources of cross-contamination.
• Focusing on naturally gluten-free foods — Fruits, vegetables, meat, fish, eggs, dairy, rice, corn, potatoes, quinoa, and certified gluten-free oats are all naturally free of gluten and form the foundation of a healthy gluten-free diet.
• Working with a dietitian — The ACG strongly recommends that all newly diagnosed celiac patients consult with a registered dietitian who specializes in celiac disease and the gluten-free diet. A dietitian can help identify hidden sources of gluten, ensure nutritional adequacy, and provide practical guidance for dining out, traveling, and managing social situations.

Nutritional Supplementation

At the time of diagnosis, many celiac patients have nutritional deficiencies resulting from malabsorption. Common deficiencies include iron, calcium, vitamin D, folate, vitamin B12, and zinc. Dr. John will order laboratory tests to assess your nutritional status and may recommend supplements to correct any deficiencies while the intestinal lining heals.

Medications in Development

While no drug has yet been approved for celiac disease, several promising therapies are in various stages of clinical investigation, including latiglutenase (an enzyme that breaks down gluten in the stomach), vaccines designed to induce tolerance to gluten, and tight junction modulators that may reduce intestinal permeability. These therapies are being studied as potential supplements to, rather than replacements for, the gluten-free diet.

Ongoing Monitoring and Follow-Up

Celiac disease requires ongoing medical follow-up to ensure that the gluten-free diet is effective and that the intestinal lining is healing. The ACG recommends the following monitoring strategy:

• Follow-up serologic testing — tTG-IgA levels should be checked 6 to 12 months after starting the gluten-free diet and periodically thereafter. A declining or normalized tTG-IgA level suggests good dietary adherence and intestinal healing.
• Follow-up endoscopy with biopsy — A repeat upper endoscopy with duodenal biopsies may be recommended 1 to 2 years after diagnosis to confirm mucosal healing. This is particularly important in patients whose symptoms are slow to resolve or whose antibody levels remain elevated.
• Bone density testing (DEXA scan) — Because calcium and vitamin D malabsorption can lead to osteopenia or osteoporosis, a bone density scan may be recommended at the time of diagnosis or shortly after, especially in adults.
• Screening for associated conditions — Celiac disease is associated with an increased risk of other autoimmune conditions, including type 1 diabetes, autoimmune thyroid disease (Hashimoto's thyroiditis and Graves' disease), autoimmune hepatitis, and Sjogren's syndrome. Periodic screening for these conditions may be warranted.
• Nutritional monitoring — Periodic blood work to check iron, ferritin, vitamin D, calcium, B12, folate, and other nutrients ensures that deficiencies are identified and corrected promptly.

Most patients experience significant symptom improvement within weeks of starting a strict gluten-free diet. Intestinal healing, however, may take 6 months to 2 years in adults, and in some cases longer. Children typically heal faster than adults.

Celiac Disease vs. Other Gluten-Related Conditions

It is important to distinguish celiac disease from other conditions that may involve a reaction to gluten or wheat:

• Non-celiac gluten sensitivity (NCGS) — Patients with NCGS experience symptoms similar to celiac disease (bloating, diarrhea, fatigue, brain fog) after eating gluten, but they do not have the autoimmune response, intestinal damage, or positive serologic markers seen in celiac disease. NCGS is a diagnosis of exclusion made after celiac disease and wheat allergy have been ruled out.
• Wheat allergy — A wheat allergy is an IgE-mediated allergic reaction to proteins in wheat, not specifically gluten. Symptoms can include hives, itching, swelling, difficulty breathing, and anaphylaxis. It is diagnosed through skin prick testing or serum IgE testing.
• Irritable bowel syndrome (IBS) — IBS and celiac disease share many overlapping symptoms, including bloating, abdominal pain, and altered bowel habits. Research suggests that up to 4 percent of patients initially diagnosed with IBS actually have celiac disease, which is why the ACG recommends serologic testing for celiac disease in patients who present with IBS-like symptoms, particularly those with diarrhea-predominant IBS.

Risk Factors and Associated Conditions

Certain factors increase the likelihood of developing celiac disease. If you have one or more of the following risk factors, screening may be recommended even in the absence of symptoms:

• First-degree relatives with celiac disease — The prevalence of celiac disease among first-degree relatives (parents, siblings, children) of affected individuals is approximately 10 to 15 percent, significantly higher than the 1 percent prevalence in the general population.
• Type 1 diabetes — Approximately 5 to 10 percent of individuals with type 1 diabetes also have celiac disease.
• Autoimmune thyroid disease — Hashimoto's thyroiditis and Graves' disease are more common in celiac patients.
• Down syndrome, Turner syndrome, and Williams syndrome — These genetic conditions are associated with a higher prevalence of celiac disease.
• Selective IgA deficiency — The most common primary immunodeficiency, which occurs more frequently in celiac patients.
• Other autoimmune conditions — Including autoimmune hepatitis, Sjogren's syndrome, and Addison's disease.

Complications of Untreated Celiac Disease

When celiac disease is left undiagnosed or untreated, the ongoing intestinal damage and chronic inflammation can lead to serious long-term health consequences:

• Osteoporosis and fractures — Chronic malabsorption of calcium and vitamin D weakens bones over time.
• Iron-deficiency anemia — Impaired iron absorption can cause chronic anemia that does not respond to oral iron supplementation until the intestinal lining heals.
• Infertility and pregnancy complications — Untreated celiac disease has been linked to unexplained infertility, recurrent miscarriage, and low birth weight.
• Neurological disorders — Peripheral neuropathy, cerebellar ataxia, epilepsy, and migraine headaches can occur.
• Lactose intolerance — Damage to the intestinal lining often reduces the production of lactase, the enzyme needed to digest dairy products. This typically resolves as the intestine heals on a gluten-free diet.
• Increased cancer risk — Untreated celiac disease is associated with a modestly increased risk of intestinal lymphoma (enteropathy-associated T-cell lymphoma) and small bowel adenocarcinoma. Adherence to a strict gluten-free diet significantly reduces this risk.

Frequently Asked Questions