Overview

Celiac disease is a chronic autoimmune condition in which the ingestion of gluten triggers an immune response that damages the small intestine. This can interfere with nutrient absorption and lead to a wide range of symptoms or, in some cases, no symptoms at all. Because it is often underdiagnosed and can mimic other digestive conditions, appropriate testing is important. When identified, celiac disease is effectively managed with a strict, lifelong gluten-free diet, which allows the intestine to heal and helps prevent long-term complications.

What is Celiac Disease?

Celiac disease is a chronic autoimmune disorder of the small intestine triggered by gluten – a protein found in wheat, barley, and rye. When people with celiac disease eat gluten, the immune system attacks the lining of the small intestine, leading to inflammation and damage to the intestinal villi (the structures responsible for nutrient absorption).

Gluten may also be present in common everyday products, including certain medications, vitamins, food additives, processed foods, and even stamp or envelope adhesive.

Many individuals with celiac disease remain undiagnosed because symptoms can be subtle, overlap with other gastrointestinal conditions, and are not always immediately recognized by healthcare providers.

What Are The Causes of Celiac Disease?

Celiac disease occurs from an interaction between genes, eating foods containing gluten, and environmental factors. We do not yet know what causes this disease. Sometimes Celiac disease is triggered or becomes active after surgery, pregnancy, childbirth, viral infection or severe emotional stress.

What Are The Signs And Symptoms of Celiac Disease?

Celiac disease affects individuals differently, and symptoms can be wide-ranging. It is important to note that experiencing these symptoms does not confirm a diagnosis, just as some individuals with celiac disease may have minimal or no symptoms.

Symptoms of celiac disease may include:

• Gas, abdominal bloating, and pain
• Chronic diarrhea or constipation; pale, foul-smelling, or fatty stools
• Weight loss or, less commonly, weight gain
• Fatigue and “brain fog” (difficulty with concentration or mental clarity, sometimes related to inflammation or nutrient deficiencies)
• Unexplained anemia (low red blood cell count)
• Behavioral changes; irritability is more common in children
• Tingling or numbness in the legs (related to nerve involvement)
• Bone or joint pain
• Muscle cramps
• Delayed growth in children or failure to thrive in infants
• Recurrent mouth sores (aphthous ulcers)
• Itchy skin rash known as dermatitis herpetiformis

Symptoms of celiac disease can overlap with other gastrointestinal conditions, particularly irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD). Studies suggest that approximately 2–6% of individuals with celiac disease are initially misdiagnosed with IBS.

Who Should Be Tested for Celiac Disease?

Celiac disease affects approximately 1 in 100 people in the United States, or about 3 million Americans. It can be diagnosed at any age, and many individuals remain asymptomatic for years. Testing should be considered in individuals with risk factors or associated conditions, even in the absence of classic symptoms.

Family history of Celiac Disease

Family history is the strongest known risk factor. If you have a parent, sibling, or child with celiac disease, your risk is approximately 7–10 times higher than that of the general population. This increased risk is related to inherited genetic markers required for the disease to develop.

However, celiac disease can also occur in individuals without a known family history. Many patients are diagnosed without an affected relative, so the absence of family history does not exclude the diagnosis.

Women struggling with Infertility

Celiac disease can impact reproductive health, particularly when undiagnosed.

Women with unexplained infertility are estimated to be up to 4-6 times more likely to have celiac disease. It has also been associated with recurrent pregnancy loss, as well as higher rates of preterm birth and low birth weight.

It is important to note that these risks often improve with appropriate diagnosis and adherence to a gluten-free diet.

Other conditions associated with celiac disease may include:

Testing should also be considered in individuals with:

• Type 1 diabetes
• Autoimmune thyroid disease
• Down syndrome
• Microscopic colitis
• Unexplained anemia
• Osteoporosis

Individuals who carry genetic markers such as HLA-DQ2 or HLA-DQ8 are at increased risk, although not all carriers will develop celiac disease.

How is Celiac Disease Diagnosed?

Testing typically begins with a blood test that looks for specific antibodies commonly elevated in people with celiac disease. These tests are highly accurate, identifying most individuals with the condition with a low rate of false positives.

If you have IgA deficiency (present in approximately 2–3% of the population), alternative blood tests are used to ensure accurate results.

If blood tests suggest celiac disease, the next step is an upper endoscopy with biopsy. During this procedure, a thin, flexible tube with a camera is passed through the mouth into the small intestine. Small tissue samples are taken to evaluate for characteristic damage to the intestinal lining.

An upper endoscopy with biopsy remains the gold standard for confirming the diagnosis of celiac disease.

Don’t Stop Eating Gluten Before Testing

It is very important to continue eating gluten before and during testing. For accurate results, you should follow a normal gluten-containing diet—typically the equivalent of 1-2 slices of bread per day for at least 2-6 weeks prior to blood testing and throughout the diagnostic process.

Starting a gluten-free diet too early can cause test results to appear normal, even if celiac disease is present. This can delay or prevent an accurate diagnosis and may require a more challenging gluten reintroduction later.

What If Blood Tests Are Negative?

In some cases, blood tests may be negative even when celiac disease is present. If there is a strong clinical suspicion based on symptoms or risk factors, an upper endoscopy with biopsy may still be recommended to confirm the diagnosis.

How is Celiac Disease Treated?

The primary treatment for celiac disease is a strict, lifelong gluten-free diet. Even small amounts of gluten (sometimes hidden in processed foods) can cause damage to the small intestine, even in the absence of symptoms.

Healing occurs as the intestinal lining recovers and nutrient absorption improves. However, improvement does not mean gluten can be safely reintroduced. Ongoing adherence to a gluten-free diet is essential to prevent complications such as malnutrition, osteoporosis, and increased risk of other autoimmune conditions.

Avoiding cross-contamination is also important. For example, using shared cookware, utensils, or preparation surfaces can expose food to gluten. Careful attention to food labeling, preparation methods, and dining outside the home is often necessary for effective management.

Additional considerations:

• Nutritional supplementation may be needed if deficiencies are present (such as iron, vitamin D, vitamin B12, folate, or calcium)
• Regular follow-up with a gastroenterologist is important to monitor healing and dietary adherence

What Are the Risks of Leaving Celiac Disease Untreated?

If celiac disease is not diagnosed and managed with a strict gluten-free diet, ongoing damage to the small intestine can lead to a range of complications related to poor nutrient absorption.

Potential risks include:

• Malnutrition and anemia: Deficiencies in iron, folate, vitamin B12, and other nutrients may lead to fatigue, weakness, and related symptoms
• Bone disease: Adults may develop osteoporosis (weak, brittle bones), while children may experience delayed growth or short stature due to calcium and vitamin D deficiencies
• Increased cancer risk: Long-standing, untreated celiac disease is associated with a higher risk of certain intestinal cancers, including lymphoma

Early diagnosis and strict adherence to a gluten-free diet significantly reduce these risks and allow the small intestine to heal.

Non-Celiac Gluten Sensitivity (NCGS)

Non-celiac gluten sensitivity (NCGS) occurs when a person experiences symptoms after eating gluten-containing foods, such as bloating, stomach pain, diarrhea, fatigue, headaches, or brain fog, but does not have celiac disease or wheat allergy.

Unlike celiac disease, NCGS:

• Does not damage the small intestine
• Does not appear on blood tests or biopsies used to diagnose celiac disease
• Does not increase the risk of long-term complications like malnutrition or intestinal cancer

NCGS is typically diagnosed only after celiac disease and wheat allergy have been ruled out. Symptoms often improve when gluten is reduced or eliminated from the diet, but the degree of restriction may vary depending on the individual.

Management:

• A gluten-reduced or gluten-free diet under guidance from a healthcare provider or dietitian
• Monitoring for symptom improvement and ensuring nutritional adequacy

While NCGS is generally less serious than celiac disease, proper evaluation is important to rule out celiac disease or other underlying conditions before making dietary changes.

Early evaluation by an experienced gastroenterologist along with appropriate testing can help confirm the diagnosis of celiac disease and guide effective treatment.