Celiac Disease Symptoms and Diagnosis: An In-depth Guide

Celiac disease is an autoimmune disorder triggered by the consumption of gluten, a protein found in wheat, barley, and rye. For individuals with celiac disease, ingesting gluten leads to an immune response in the small intestine, causing damage to the villi – small, finger-like projections that line the small intestine and are responsible for nutrient absorption. This damage can result in malabsorption, preventing the body from properly absorbing essential nutrients from food.

Diagram illustrating celiac disease, highlighting damaged villi in the small intestine and malabsorption of nutrients.

While there is currently no cure for celiac disease, effectively managing symptoms and promoting intestinal healing is achievable for most individuals through strict adherence to a gluten-free diet. Understanding the diverse symptoms and accurate diagnosis are crucial steps in managing this condition and improving quality of life.

Symptoms of Celiac Disease

The presentation of celiac disease can vary widely, with symptoms differing significantly between adults and children. It’s important to note that not everyone with celiac disease experiences the same symptoms, and some individuals may have minimal or even no noticeable symptoms, especially in the early stages.

Digestive Symptoms in Adults

Adults with celiac disease often experience a range of digestive issues. These can include:

Diarrhea: Frequent and loose bowel movements are a common symptom due to malabsorption and intestinal irritation.
Fatigue: Persistent tiredness and lack of energy can result from nutrient deficiencies and the body’s inflammatory response.
Weight Loss: Unintentional weight loss may occur as the body struggles to absorb calories and nutrients.
Bloating and Gas: Increased gas production and abdominal bloating are common digestive discomforts.
Abdominal Pain: Pain or discomfort in the abdomen can range from mild to severe.
Nausea and Vomiting: Feeling sick to the stomach and throwing up can occur, although less frequently than other digestive symptoms.
Constipation: While diarrhea is more common, some adults may experience constipation.

Non-Digestive Symptoms in Adults

Interestingly, over half of adults with celiac disease present with symptoms outside of the digestive system. These non-classical symptoms can sometimes make diagnosis challenging. They include:

Anemia: Iron deficiency anemia is frequent due to impaired iron absorption in the small intestine.
Osteoporosis or Osteomalacia: Reduced bone density (osteoporosis) or bone softening (osteomalacia) can develop due to calcium and vitamin D malabsorption.
Dermatitis Herpetiformis: This intensely itchy, blistering skin rash is a specific manifestation of celiac disease.
Mouth Ulcers: Recurring sores inside the mouth can be a symptom.
Headaches and Fatigue: Chronic headaches and persistent fatigue can occur independently of digestive issues.
Nervous System Issues: Neurological symptoms such as numbness and tingling in hands and feet (peripheral neuropathy), balance problems, and cognitive impairment (brain fog) may arise.
Joint Pain: Aches and pains in the joints can be experienced.
Hyposplenism: Reduced spleen function, increasing susceptibility to infections.
Elevated Liver Enzymes: Abnormal liver function tests can be an indicator.

Symptoms in Children

Children with celiac disease are more likely to exhibit digestive symptoms compared to adults. Common digestive symptoms in children include:

Nausea and Vomiting: Feeling sick and throwing up.
Chronic Diarrhea: Persistent diarrhea.
Swollen Belly (Abdominal Distension): A noticeably protruding abdomen.
Constipation: Difficulty passing stools.
Gas (Flatulence): Excessive gas.
Pale, Foul-Smelling Stools: Stools that are light in color and have an unusually bad odor.

Malabsorption in children can significantly impact growth and development, leading to:

Failure to Thrive: In infants, poor weight gain and development delays.
Damaged Tooth Enamel: Enamel defects in permanent teeth.
Weight Loss: Unexplained weight loss.
Anemia: Iron deficiency anemia.
Irritability: Increased fussiness and irritability.
Short Stature: Being shorter than expected for their age.
Delayed Puberty: Puberty occurring later than the typical age range.
Neurological Symptoms: Including ADHD, learning disabilities, headaches, poor muscle coordination (ataxia), and seizures.

Dermatitis Herpetiformis

Dermatitis herpetiformis (DH) is a distinct skin manifestation of celiac disease, characterized by a blistering, intensely itchy rash. It is directly linked to gluten intolerance and often indicates similar intestinal damage as seen in celiac disease, even if digestive symptoms are absent. The rash typically appears on the elbows, knees, torso, scalp, or buttocks. Management involves a gluten-free diet, medication, or a combination of both to control the skin condition.

When to Seek Medical Advice

It is essential to consult a healthcare professional if you experience persistent diarrhea or digestive discomfort lasting longer than two weeks. For children, seek medical advice if they exhibit paleness, irritability, failure to grow, a distended abdomen, or foul-smelling, bulky stools.

Crucially, consult your doctor before initiating a gluten-free diet. Altering your gluten intake prior to celiac disease testing can interfere with test results and potentially lead to a misdiagnosis.

Celiac disease has a genetic component and tends to run in families. If you have a family history of celiac disease or conditions that increase risk, such as type 1 diabetes, discuss with your healthcare provider whether celiac disease testing is recommended for you or your family members.

Causes and Risk Factors

While the precise cause of celiac disease remains unclear, it is understood to be a multifactorial condition involving genetic predisposition, gluten consumption, and other environmental factors. Potential contributing factors under investigation include infant feeding practices, gastrointestinal infections, and the composition of gut bacteria. In some instances, the onset of celiac disease can be triggered by events like surgery, pregnancy, childbirth, viral infections, or severe emotional stress.

The fundamental mechanism involves an abnormal immune system response to gluten. In individuals with celiac disease, the immune system mistakenly attacks gluten as a harmful substance. This immune reaction damages the villi in the small intestine, hindering nutrient absorption.

Certain factors increase the risk of developing celiac disease:

Family History: Having a first-degree relative (parent, sibling, or child) with celiac disease or dermatitis herpetiformis significantly increases risk.
Type 1 Diabetes: Individuals with type 1 diabetes have a higher prevalence of celiac disease.
Genetic Syndromes: Conditions like Down syndrome, Williams syndrome, and Turner syndrome are associated with increased celiac disease risk.
Autoimmune Thyroid Disease: Autoimmune thyroid disorders, such as Hashimoto’s thyroiditis and Graves’ disease, are linked to celiac disease.
Microscopic Colitis: This inflammatory bowel disease is associated with celiac disease.
Addison’s Disease: Adrenal insufficiency (Addison’s disease) is another autoimmune condition linked to increased celiac risk.

Potential Complications

Untreated celiac disease can lead to a range of serious complications due to chronic malabsorption and inflammation. These complications include:

Malnutrition: Inadequate nutrient absorption leads to deficiencies, causing anemia, weight loss, and in children, impaired growth and short stature.
Bone Weakening: Calcium and vitamin D malabsorption can result in osteomalacia (rickets in children) or osteoporosis, increasing fracture risk.
Infertility and Miscarriage: Nutrient deficiencies, particularly calcium and vitamin D, can contribute to reproductive issues in both men and women.
Lactose Intolerance: Damage to the small intestine can cause temporary or permanent lactose intolerance, leading to digestive issues after consuming dairy products.
Cancer: Long-term, untreated celiac disease is associated with an increased risk of certain cancers, including intestinal lymphoma and small bowel cancer.
Nervous System Conditions: Neurological complications such as seizures and peripheral neuropathy can develop.

Nonresponsive and Refractory Celiac Disease

In some cases, individuals with celiac disease may not experience symptom relief despite adhering to a gluten-free diet. This is termed nonresponsive celiac disease. Often, this is due to unintentional gluten contamination in the diet. Consulting with a registered dietitian specializing in celiac disease can help identify hidden gluten sources and ensure strict adherence to a gluten-free diet.

Other underlying conditions can also contribute to nonresponsive celiac disease, including:

Small Intestinal Bacterial Overgrowth (SIBO)
Microscopic Colitis
Pancreatic Insufficiency: Impaired pancreas function.
Irritable Bowel Syndrome (IBS)
Sugar Malabsorption: Difficulty digesting lactose, sucrose, or fructose.

In rare instances, symptoms persist even when gluten contamination and other conditions are ruled out. This is known as refractory celiac disease, where the intestinal damage does not respond to a gluten-free diet. If symptoms persist after 6 to 12 months on a strict gluten-free diet, further investigation by a healthcare team is necessary to identify the cause and determine appropriate management strategies.

Diagnosing Celiac Disease

Diagnosing celiac disease typically involves a combination of blood tests and an upper endoscopy with biopsy.

Blood Tests:

Serology Tests: These tests measure antibodies in the blood that are elevated in individuals with celiac disease. The most common tests include:
- Tissue Transglutaminase IgA antibody (tTG-IgA): This is usually the first-line test.
- IgA Endomysial antibody (EMA-IgA): Highly specific for celiac disease.
- Deamidated gliadin peptide (DGP IgA and IgG) antibodies: May be helpful in individuals with IgA deficiency.
- Total Serum IgA: To check for IgA deficiency, as IgA-based antibody tests may be falsely negative in IgA deficient individuals.

It’s crucial to be consuming a gluten-containing diet for accurate serology testing. Eliminating gluten before testing can lead to false negative results.

Upper Endoscopy with Biopsy:

If blood tests are positive or strongly suggestive of celiac disease, an upper endoscopy is usually performed to confirm the diagnosis. During this procedure, a thin, flexible tube with a camera (endoscope) is inserted through the mouth into the small intestine. Biopsies (small tissue samples) are taken from the duodenum (the first part of the small intestine) and examined under a microscope for villous atrophy (damage to the villi) and other characteristic features of celiac disease.

Genetic Testing:

Genetic tests can identify genes (HLA-DQ2 and HLA-DQ8) associated with celiac disease. These tests are not diagnostic on their own, as many people carry these genes but do not develop celiac disease. However, negative genetic test results can help rule out celiac disease, especially in certain situations. Genetic testing can be useful in:

Individuals with negative serology but high clinical suspicion.
Family members of individuals with celiac disease.
Diagnosing atypical presentations of celiac disease.

Other Diagnostic Tests:

In some cases, additional tests may be used to evaluate complications or alternative diagnoses:

Stool Tests: To assess for fat malabsorption.
Bone Density Scan (DEXA Scan): To evaluate bone density and assess for osteoporosis or osteopenia.
Skin Biopsy: For diagnosing dermatitis herpetiformis.

Management and Treatment: Gluten-Free Diet

Currently, the only established treatment for celiac disease is a lifelong, strict gluten-free diet. This involves completely eliminating all sources of gluten from the diet. Gluten is found in wheat, barley, and rye, and therefore in many products made with these grains, including:

Bread and Baked Goods: Most conventional breads, pastries, cakes, cookies, crackers.
Pasta: Traditional wheat-based pasta.
Cereals: Many breakfast cereals.
Beer: Most beers are made from barley.
Processed Foods: Gluten can be hidden in many processed foods as a thickening agent or stabilizer, including sauces, soups, salad dressings, and even some medications and lip balms.

Following a gluten-free diet allows the small intestine to heal, villi to regenerate, and nutrient absorption to improve. Symptoms typically improve significantly within weeks to months of starting a gluten-free diet.

Key aspects of managing celiac disease with a gluten-free diet include:

Education: Learning to identify gluten-containing foods and hidden sources of gluten is crucial.
Reading Food Labels Carefully: Becoming proficient at reading food labels to check for gluten-containing ingredients.
Cross-Contamination Awareness: Preventing cross-contamination in the kitchen by using separate cutting boards, toasters, and utensils for gluten-free foods.
Gluten-Free Alternatives: Utilizing gluten-free grains and flours such as rice, corn, quinoa, tapioca, and potato flour.
Registered Dietitian Consultation: Working with a registered dietitian specializing in celiac disease is highly recommended to develop a balanced and nutritionally adequate gluten-free meal plan and to address any nutritional deficiencies.
Regular Follow-up: Routine follow-up with a healthcare provider and dietitian to monitor symptoms, nutritional status, and adherence to the gluten-free diet.

While a gluten-free diet is highly effective for most people with celiac disease, it requires significant lifestyle adjustments and ongoing vigilance to avoid gluten exposure. With proper management and adherence to a gluten-free diet, individuals with celiac disease can achieve symptom relief, intestinal healing, and a greatly improved quality of life.

By Mayo Clinic Staff

Celiac disease care at Mayo Clinic

Request an appointment

Diagnosis & treatment

Sept. 12, 2023

References

Rubio-Tapia A, et al. American College of Gastroenterology guidelines update: Diagnosis and management of celiac disease. American Journal of Gastroenterology. 2023; doi:10.14309/ajg.0000000000002075.
Catassi C, et al. Coeliac disease. The Lancet. 2022; doi:10.1016/S0140-6736(22)00794-2.
Singh P, et al. Who to screen and how to screen for celiac disease. World Journal of Gastroenterology. 2022; doi:10.3748/wjg.v28.i32.4493.
What is celiac disease? Celiac Disease Foundation. https://celiac.org/about-celiac-disease/what-is-celiac-disease/. Accessed April 26, 2023.
Feldman M, et al., eds. Celiac disease. In: Sleisenger and Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 11th ed. Elsevier; 2021. https://www.clinicalkey.com. Accessed April 26, 2023.
Celiac disease. National Institute of Diabetes, Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease. Accessed April 26, 2023.
Ami TR. AllScripts EPSi. Mayo Clinic. March 24, 2023.
Khanna S (expert opinion). Mayo Clinic. May 12, 2023.

Associated Procedures

News from Mayo Clinic

Products & Services

[

Mayo Clinic in Rochester, Minnesota, has been recognized as the best Gastroenterology & GI Surgery hospital in the nation for 2024-2025 by U.S. News & World Report.

Learn more about this top honor ](/about-mayo-clinic/quality/rankings)