Celiac Disease

Medically Reviewed By William C. Lloyd III, MD, FACS

What is celiac disease?

Celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is a genetic immune disorder that affects your digestive system and damages your small intestines. In people with celiac disease, the immune system reacts abnormally to foods containing gluten, a protein found in foods and products that contain certain grains, such as wheat, barley and rye.

The lining of your intestines is made of many small fingerlike projections, called villi, that are responsible for digesting and absorbing nutrients. In celiac disease, the villi flatten out and are damaged or destroyed when the immune system reacts to gluten. This significantly decreases the amount of surface area available to digest and absorb nutrients in the small intestine.

Celiac disease is more common in people of European ancestry and Caucasians. More than 2 million Americans have been diagnosed with celiac disease; however, recent studies have suggested that as many as one in every 133 Americans may have it, and that the disease is underdiagnosed.

The symptoms of celiac disease vary among individuals and depend on the amount of gluten a person consumes. Symptoms can affect the digestive tract as well as other parts of the body. Common symptoms include excessive gas, abdominal bloating, diarrhea, weight loss, and fatigue. Some people who have celiac disease may have no symptoms.

Talk to your doctor about any digestive symptoms that last more than two weeks or cause you significant discomfort. Seek immediate care (call 911) if these symptoms occur along with intense abdominal pain, rapid heart rate, difficulty breathing, stomach swelling, bloody diarrhea, tarry stools, or vomit that is bloody or resembles coffee grounds. These can indicate a serious or even life-threatening condition that requires prompt treatment.

What’s the difference between celiac disease and non-celiac gluten sensitivity (NCGS)?

Celiac disease is a serious form of gluten intolerance in which the body reacts to gluten by damaging the small intestine. Although the symptoms can be similar, celiac disease symptoms are generally more severe and longer-lasting compared to the symptoms of non-celiac gluten sensitivity (NCGS). Most importantly, celiac disease causes actual damage to the small intestine and can cause complications in other body systems, such as anemia and osteoporosis. These problems are generally not seen in NCGS.

Left untreated, celiac disease can result in serious complications, such as malnutrition, small intestine cancer, and anemia. Seek prompt medical care if you have symptoms of celiac disease, such as excessive abdominal bloating, diarrhea or weight loss.

What are the different types of celiac disease?

Doctors classify types of celiac disease based on the type and number of symptoms a person is experiencing.

  • Classical celiac disease occurs when someone has symptoms that indicate malabsorption of nutrients, including diarrhea, greasy stools, anemia, or weight loss. In children, this can present as a failure to thrive and grow at expected rates.

  • Non-classical celiac disease, when symptoms do not show signs of malabsorption. Someone with non-classical celiac disease typically has only one primary digestive symptom, such as cramping or diarrhea, but not the complications associated with malabsorption.

  • Asymptomatic celiac disease, also known as silent celiac disease, appears to have no symptoms, even when the person is experiencing villous damage in the small intestine. While symptoms did not seem to be present or causing distress, in studies patients found they felt better and experienced fewer digestive issues after going on a gluten-free diet.

What are the symptoms of celiac disease?

The symptoms of celiac disease can be vague and similar to other conditions that affect the digestive system, such as diverticulosis or irritable bowel syndrome. Your symptoms may be mild or severe, and they may vary depending on the amount of gluten you eat. Symptoms of celiac disease affect your small intestines and can affect other parts of your body. Some people with celiac disease experience no symptoms.

Common symptoms of celiac disease

Symptoms of celiac disease can include:

  • Abdominal bloating
  • Abnormally foul-smelling stools
  • Chronic or persistent diarrhea
  • Excessive gas
  • Fatigue
  • Irritability (in children)
  • Pale feces
  • Tooth discoloration, including white, yellow or brown spots, may be the first symptoms of celiac disease, especially in young children. Permanent tooth problems can cause serious health issues.

Serious symptoms that might indicate a life-threatening condition

Celiac disease can lead to serious complications, such as anemia, miscarriage, birth defects, malnutrition, or osteoporosis. Symptoms that might indicate a serious or life-threatening condition include:

Seek immediate medical care or call 911 if you experience vaginal bleeding during pregnancy. Seek prompt medical care for any other symptoms listed above.

What causes celiac disease?

The cause of celiac disease is not known. However, studies show that genetics play a key role. Most people who have celiac disease have one of two known gene variants, known as HLA-DQ2 and HLA-DQ8. However, not everyone who has these variants has celiac disease, so researchers are studying whether additional genetic markers may influence development of celiac disease.

In people with celiac disease, the consumption of gluten triggers an immune response that can damage the lining of the small intestine, resulting in digestive symptoms and making it difficult for the body to absorb the nutrients it needs from food.

What are the risk factors for celiac disease?

A number of factors increase your risk of developing celiac disease, including genetic disorders and autoimmune diseases. Not all people who are at risk for celiac disease will develop the condition.

Risk factors include:

  • Autoimmune liver disease

  • Autoimmune thyroid disease

  • Being of northern European descent

  • Changes in the gut microbiome

  • Down syndrome

  • Family history of celiac disease

  • High number of infections in childhood

  • Microscopic colitis (inflammation of the colon)

  • Presence of one or two groups of gene variants, HLA-DQ2 and HLA-DQ8

  • Rheumatoid arthritis

  • Turner syndrome (a female-only condition caused by a missing or incomplete sex chromosome

  • Type 1 diabetes

How do you prevent celiac disease?

It is not possible to prevent celiac disease. However, early diagnosis improves the effectiveness of treatment and reduces the likelihood of intestinal damage and other complications, such as malnutrition, osteoporosis or anemia.

Some experts have theorized about whether certain events in childhood can increase the risk of developing celiac disease—including cesarean birth, introduction to gluten at a young age, and breastfeeding—but research has not shown any definitive causation between these factors and celiac disease risk.

Because of the genetic component of celiac disease, talk to your doctor or your child’s pediatrician if a close family member has celiac disease. Family history of celiac disease increases the risk of developing the condition, and your doctor can advise on screening options or other testing that may allow for early detection.

What are some conditions related to celiac disease?

Celiac disease symptoms are similar to those of other digestive diseases such as Crohn's disease, irritable bowel syndrome, ulcerative colitis, diverticulosis, and intestinal infections. As a result, it is not possible to self-diagnose celiac disease. A doctor must perform tests including blood tests, endoscopy and biopsy to confirm a diagnosis of celiac disease.

Because celiac disease is an autoimmune disorder, it increases the risk of developing one or more additional autoimmune conditions. Untreated celiac disease can also cause systemic damage to such areas as the bones, joints, cardiovascular system, and skin. Celiac disease can also affect mental and emotional health.

Conditions associated with celiac disease include:

How do doctors diagnose celiac disease?

Doctors diagnose celiac disease based on a combination of evaluations, including a medical history, physical exam, and the results of tests, including blood tests, an endoscopy of the digestive tract, and biopsies of tissue from the small intestine.

Your doctor may ask you several questions to gain an understanding of what may be causing your symptoms. Questions your doctor might ask include:

  • What type of symptoms have you been experiencing? How long have you had these symptoms?
  • Do you have any other symptoms, such as fatigue, joint pain or weight loss?
  • Do certain foods seem to trigger your symptoms? Does anything help reduce your symptoms?
  • Have you been diagnosed with any other digestive conditions?
  • Does anyone in your family have celiac disease or gluten intolerance?
  • What medications are you currently taking?

Tests to diagnose celiac disease

In order to confirm a celiac disease diagnosis, your doctor will likely have you undergo a variety of tests to look for the presence of specific antibodies and to visually examine your small intestine.

Tests to help diagnose celiac disease include:

  • Blood tests, to look for elevated levels of antibodies produced by the immune system as a response to gluten. These tests must be performed while you are still eating gluten in order to detect an immune reaction. If you have been avoiding gluten, your doctor will advise you on how to start a gluten challenge and safely incorporate gluten back into your diet for testing.
  • Genetic tests, performed through blood tests, to check for variations in your genes associated with celiac disease. However, these genetic indicators can also be present in people without celiac disease, so these tests are more often used to rule out celiac disease as a cause of symptoms.
  • Upper endoscopy, also known as esophagogastroduodenoscopy (EGD), a procedure in which doctors use a small, flexible camera to visually examine the inside tissue of the small intestine and check for damage caused by celiac disease.

Marsh classification of celiac disease

Diagnostic sampling biopsies of the small intestine for celiac disease provide information about the presence of a certain type of white blood cell known as intraepithelial lymphocytes (IELs), which become elevated with celiac disease. An upper endoscopy allows doctors to examine the progression of damage to villi, the finger-like projections of tissue in the small intestine that absorb nutrients from food. This progression can be assessed by looking at the length of the villi compared to the depth of the crevices (known as crypts) between them. When the crypts are longer than normal, doctors call this crypt hyperplasia.

Pathologists interpret these results using the Marsh classification, a system developed in 1992 by Dr. Michael Marsh to define the progression of celiac disease by evaluating the key markers of IEL levels and damage to the villi.

The Marsh classification outlines celiac disease stages into these types:

  • Marsh Type 0: All levels of IELs are normal, and no damage is detected to villi.

  • Marsh Type 1: Levels of IELs are elevated, but all villi tissue is normal. This result can indicate other conditions, such as gastrointestinal infection, Crohn’s disease, or a reaction to certain medications. It can also be associated with dermatitis herpetiformis (known as DH, Duhring’s disease, or gluten rash), a rash that develops on the skin as part of an immune response to gluten. About 10 to 15% of people with celiac disease experience DH, but it can also occur in people who do not have celiac disease and experience no digestive symptoms. 
  • Marsh Type 2: IEL levels are high, and the length of crypts (grooves between the villi) is increased. However, the villi still appear healthy. This result is rare and is sometimes associated with dermatitis herpetiformis.

  • Marsh Type 3: Levels of IELs are high, crypt hyperplasia is increased, and villi show damage. There are three subtypes within Type 3—3a, 3b and 3c—to reflect increased levels of atrophy to the villi tissue. This range of progression indicates the presence and severity of celiac disease. 

Diagnosis of celiac disease with dermatitis herpetiformis

In someone with dermatitis herpetiformis who also has symptoms of celiac disease, doctors may perform a skin biopsy to test for the presence of specific antibodies in skin next to an active rash. (Antibodies within the lesions themselves can be destroyed by inflammation.)

If the skin biopsy is positive and a blood test also shows elevated antibodies, doctors can confirm a diagnosis of celiac disease without having to perform an endoscopy or internal biopsy.

Your doctor will explain your individual test results and diagnosis to you, and advise on the best course of treatment to manage your symptoms.

How is celiac disease treated?

The primary treatment for celiac disease is eliminating gluten from your diet. Common foods that contain gluten include cereals, breads, pasta, and other foods or products that contain wheat, barley, rye, farina, or any flour not labeled as gluten-free.

Less obvious sources of gluten include:

  • Alcoholic beverages, including ale, beer, vodka, whiskey and gin

  • Certain medications and vitamin supplements

  • Foods that may be contaminated with gluten when they are processed with equipment that is also used to process grains that contain gluten

  • Glue on stamps and envelopes

  • Mouthwashes

Treatment of celiac disease also might involve:

  • Corticosteroid medications, such as azathioprine (Azasan) or budesonide (Entocort EC, Uceris),
    to reduce inflammation of the small intestine. However, these are unnecessary in most cases and have many side effects.

  • Nutritional supplements and/or medications to treat any complications, such as vitamin deficiencies and osteoporosis

A number of drugs are currently in clinical trials with the goal of making it easier to manage celiac disease symptoms, particularly for people who find it challenging to avoid gluten completely or who may accidentally ingest gluten. Talk to your doctor about in-development therapies for celiac disease and whether you may be a candidate to participate in a clinical trial.

Alternative treatments for celiac disease

Some health sites promote a variety of enzyme supplements as an option to help reduce celiac disease symptoms, reportedly by boosting the immune system or protecting the intestinal lining from accidental exposure to gluten. However, scientific research has not shown these supplements to be effective, and as of now, the only proven treatment for celiac disease is a gluten-free diet.

How do you eat a gluten-free diet for celiac disease?

Most people with celiac disease who follow a gluten-free diet experience an improvement in symptoms. Following a gluten-free diet can be challenging because of the many dietary limitations and hidden sources of gluten.

In addition to avoiding foods with wheat, barley, rye, or any flour not labeled as gluten-free, people maintaining a gluten-free diet should follow these tips:

  • Always read labels on packaged foods. Some items you may not expect to include gluten—such as soy sauce, salad dressings, or deli meat—could be surprise symptom triggers.
  • “Gluten-free” does not always mean gluten-free: In restaurants or on packaged goods, foods that are labeled as gluten-free could be subject to cross-contamination with wheat or other sources of gluten.
  • Learn to identify terms that indicate gluten, such as dextrin, emmer, kamut, spelt, or wheat items, such as cracked wheat, wheat germ, or wheat brain.
  • Oats themselves are safe for a gluten-free diet, but they are likely to be processed in the same facility as wheat products. Again, always check labels before eating.
  • Use alternative flour options, such as almond, potato, rice, or amaranth in place of wheat flour when cooking or baking.
  • Use caution when eating corn or rice products. These do not contain gluten; however, they often are produced in factories that also process wheat. Read labels carefully when choosing corn or rice items.

Generally, focusing on whole foods like fresh fruits, vegetables, lean meats, and fish will naturally keep your diet gluten-free and provide balanced nutrition. You might also consider consulting with a registered dietitian to learn and understand all your dietary options and to build a healthy and enjoyable gluten-free eating plan.

How does celiac disease affect quality of life?

Celiac disease has a significant impact on a person’s quality of life, both in experiencing the symptoms of the condition and adhering to a strict gluten-free diet.

Living with the symptoms of celiac disease—which can include abdominal pain, digestive issues, fatigue, joint pain, mood swings, and weight loss—can negatively affect a person’s ability to work, socialize, care for loved ones, or enjoy favorite activities.

Fortunately, maintaining a gluten-free diet is an effective way to reduce or even eliminate these symptoms. However, strict vigilance to a gluten-free diet presents its own challenges. It can be difficult to give up favorite foods like bread, pasta or baked goods. Today, many gluten-free options are available as substitutes, but these can be difficult to find and come at a higher cost than traditional versions.

People following a strict gluten-free diet also have expressed anxiety about dining out or attending events where they cannot be sure of the contents of the food that is served. They may feel self-conscious about asking detailed questions about the source and preparation of food, or be frustrated that gluten-free eating is seen as “trendy” rather than a health necessity.

At home, adherence to a gluten-free diet can cause stress for family members who must keep track of what meals they prepare or which foods must be restricted from the household. Parents may feel persistent worry about a child being accidentally exposed to gluten or find it difficult to see children experiencing celiac disease symptoms. Sending children to school can also be stressful, as parents, teachers, and administrators must work together to ensure students are able to maintain their gluten-free diet during school meals and snacks.

For children and teenagers, staying gluten-free can cause social isolation and limit spontaneity of social events with friends. Because of these negative emotional effects of “extreme vigilance” in following a gluten-free diet, experts are discussing the best balance between avoiding gluten-free foods and maintaining an enjoyable quality of life, particularly for younger patients.

The good news is awareness of celiac disease and gluten-free diets has never been higher. Online and in-person support groups are available to provide advice, gluten-free food tips, and emotional support for people and families living with celiac disease. Talk to your healthcare provider about options for nutritional guidance from a registered dietitian or other trusted resources about gluten-free eating.

What are the possible complications of celiac disease?

Complications of untreated celiac disease can be serious and even life threatening in some cases. Complications can include:

  • Anemia

  • Birth defects if the mother has celiac disease

  • Bone fractures due to osteoporosis

  • Depression

  • Failure to thrive in infants and children

  • Miscarriage if the mother has celiac disease

  • Small intestine cancer

  • Vitamin and mineral deficiencies and malnutrition

You can eliminate or minimize your risk of serious complications by following your treatment and dietary plan and seeking regular medical care as recommended by your healthcare provider.

Does celiac disease shorten life expectancy?

Because celiac disease is a systemic condition, symptoms can cause complications in all areas of the body. However, there is limited evidence that celiac disease shortens life expectancy, and most people with celiac disease who follow a gluten-free diet live full, healthy lives.

One long-term study in Sweden, conducted over a span of nearly 40 years, showed a slight but statistically significant reduction in life expectancy among people with celiac disease. Specifically, patients were at increased risk of dying from respiratory illness (such as flu or pneumonia), cardiovascular disease, and some types of cancer. However, research has not shown one primary complication that reduces mortality in patients with celiac disease.

Talk with your doctor about possible complications from celiac disease and steps you can take to reduce your risk.

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    Medical Reviewer: William C. Lloyd III, MD, FACS
    Last Review Date: 2021 Aug 17
    View All Celiac Disease Articles
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