What Is Celiac Disease?

Medically reviewed by Jay N. Yepuri, MD

Celiac disease is a chronic (long-term) autoimmune disorder that happens when your immune system has a reaction to eating gluten—a type of protein found in many grains, such as wheat, barley, and rye. With celiac disease, consuming gluten causes the immune system to attack the lining of the small intestine, leading to inflammation and damage to the villi, which are small, finger-like organs of your small intestine that help your body absorb nutrients.

There are over 200 symptoms associated with celiac disease, which can affect the entire body. Common symptoms include diarrhea, headaches, fatigue, and an itchy skin rash. Healthcare providers use blood tests and biopsies to diagnose celiac disease. If you receive a diagnosis for celiac disease, the first line of treatment involves following a strict gluten-free diet.

About 1.4% of the global population lives with celiac disease, and recent studies suggest that rates of the condition are increasing worldwide. That's why understanding the symptoms and knowing went to reach out to a healthcare provider are so important.

Related:What Is Gluten?

Types of Celiac Disease

There are different types of celiac disease that you can develop. These types are based on the symptoms you have and how severe your condition is. The categories of celiac disease include the following:

  • Classic: People with this type of celiac disease have gastrointestinal (stomach-related) symptoms and signs of nutrient malabsorption, including diarrhea, foul-smelling poop, and weight loss.

  • Non-classic: Often causes non-gastrointestinal signs and symptoms such as iron-deficiency anemia, migraine, fatigue, vitamin deficiency, anxiety, and late puberty (in children and adolescents).

  • Silent: People with silent celiac disease have no symptoms but still experience damage to their small intestines.

  • Refractory: A rare and severe type where symptoms continue despite following a strict gluten-free diet.

Symptoms

The symptoms of celiac disease can vary from person to person. Some people may have symptoms related to the gastrointestinal tract (local symptoms), and others may have symptoms that affect the entire body (systemic symptoms).






The GI tract is the passageway in your digestive system that moves food through the mouth to the stomach, intestines, and then the anus (butt).





Local Symptoms

Local symptoms of celiac disease are related to the GI tract and occur due to damage in the small intestine. If you have local symptoms, it's common to experience:

Systemic Symptoms

Systemic symptoms of celiac disease can affect the whole body and are often a result of malabsorption and nutritional deficiencies that occur when your body isn't able to process gluten. Symptoms can include:

  • Anxiety and depression

  • Dermatitis herpetiformis (itchy skin rash)

  • Fatigue

  • Headaches or migraine

  • Iron-deficiency anemia

  • Joint pain

  • Muscle weakness and cramps

  • Mouth ulcers or canker sores

  • Numbness and tingling in the hands and feet

  • Unexplained infertility (not being able to conceive a child)

Symptoms in Children

In children, celiac disease can significantly affect growth and development. In addition to gastrointestinal symptoms, children may also experience the following:

Causes

With celiac disease, eating any type of gluten triggers the immune system to attack the villi that line the small intestine. The villi are tiny, finger-like parts of your small intestine that contain blood vessels and help your body absorb nutrients from the foods you eat. Over time, celiac disease causes the villi to become eroded or damaged, making it difficult for your body to absorb essential vitamins and minerals.

Research shows that genetics and eating gluten are the two primary factors that cause celiac disease. Certain environmental factors may also increase your risk of developing symptoms.

Genetics

Almost everyone with celiac disease has specific genetic variations (changes) that make them more prone to developing the condition. Specifically, these gene variations include the LA-DQ2 and HLA-DQ8 genes.

You can inherit these genes from one or both of your parents. Between 30% and 40% of the population has one of the genetic variations that are associated with celiac disease, but only 3% of people with these variations develop the condition. If you have a parent, sibling, or child with celiac disease, you have a 1 in 10 chance of developing symptoms yourself.

Gluten

Normally, gluten proteins in food are broken down by enzymes in your digestive system. Gluten turns into peptides (or, smaller chains of proteins) which makes it easier for your bloodstream to absorb.

But in people with celiac disease, the immune system mistakes a protein in gluten called gliadin for an infectious agent (such as a type of bacteria or virus). The immune system then mistakenly attacks the small intestine, causing inflammation and damage to the villi.

Gluten is found in many grains, including:

  • Wheat (including varieties like spelt, kamut, farro, and durum)

  • Barley

  • Rye

  • Triticale (a hybrid of wheat and rye)

Many processed foods also contain gluten, including bread, pasta, cereal, and baked goods.

Risk Factors

Certain risk factors can increase your chances of developing celiac disease, such as:

  • Having a family history of the condition

  • Living with another autoimmune disorder, such as type 1 diabetes or thyroid disorders

  • Growing up with several infections or illnesses in infancy and early childhood

  • Being born female, which can double your risk of developing the condition

Diagnosis

If you're experiencing symptoms of celiac disease or notice changes in how your body feels after eating food, it's a good idea to talk to your healthcare provider about getting tested. Your provider can diagnose celiac disease through a physical exam, medical and family history review, and symptom evaluation. Blood tests and biopsies are used to confirm the diagnosis.

Physical Exam and Medical History

To diagnose celiac disease, your healthcare provider will ask about your symptoms, review your medical history, and ask if you have family members with celiac disease.

During the physical exam, your healthcare provider will look for signs of celiac disease, such as unintentional weight loss, skin rashes, and growth problems (in children). They may listen to your abdomen with a stethoscope and gently press on your stomach to check for pain and bloating.

Genetic Testing

As part of the diagnostic process, your healthcare provider may recommend genetic testing to look for the specific genes commonly found in people with celiac disease: HLA-DQ2 and HLA-DQ8. Genetic testing may involve taking your blood or swabbing the inside of your cheek to collect a sample of your cells.

Having these genes does not necessarily mean you will develop or have celiac disease. In most cases, a positive genetic test would lead to further diagnostic testing to confirm or rule out celiac disease.

Blood Tests

Blood tests can measure levels of certain antibodies (or, proteins that help fight the condition). Generally, people with celiac disease have high levels of antibodies in their immune system. With celiac disease, your body produces the following antibodies after you’ve consumed gluten:

  • Endomysial antibody (EMA)

  • Tissue transglutaminase (tTG)

  • Deamidated gliadin peptide (DGP) antibodies

If you are already following a gluten-free diet, you may not have elevated levels of these antibodies, even if you have celiac disease. The most accurate testing for antibodies will generally occur before you've started eating a gluten-free diet.

Endoscopy and Biopsy

If your blood tests confirm you have antibodies associated with celiac disease, the next step that your healthcare provider will usually employ is performing an endoscopy with a biopsy to confirm the diagnosis.

Healthcare providers use an endoscope (flexible tube with a camera attached) to view the upper portion of the small intestine (duodenum) and look for signs of damage to the villi. During the procedure, a small piece of tissue is taken from your small intestine (biopsy) and sent to the lab, where it is examined under a microscope to check for signs of celiac disease.

Treatment

Following a strict gluten-free diet is the gold standard of treatment for celiac disease. This means avoiding foods, beverages, supplements, and other gluten-containing products. A gluten-free diet can eliminate symptoms, heal the small intestine, and prevent long-term complications for most people with celiac disease. Generally, your primary care provider will refer you to a nutritionist to help develop a gluten-free meal plan that is right for you.

Along with avoiding gluten, other treatments may help manage specific symptoms or complications of celiac disease, such as malabsorption of nutrients, skin rashes, or refractory celiac disease. These treatments may include:

  • Nutritional supplements: People with celiac disease are often deficient in certain nutrients such as calcium, fiber, iron, folate, vitamin B12, and vitamin D. Your healthcare provider may prescribe nutritional supplements, such as a gluten-free multivitamin, to help correct nutritional deficiencies.

  • Medications: Your provider can prescribe certain medications to treat skin rashes associated with celiac disease (dermatitis herpetiformis). If celiac disease symptoms persist despite following a gluten-free diet, your provider may consider prescribing you corticosteroids.

Related:What Does It Mean to Be Gluten Free?

How to Prevent Celiac Disease

There is no known way to prevent celiac disease, though researchers are exploring various methods that may lower the risk of developing the condition. For example, one study found that feeding young children a diet rich in fruits, vegetables, and vegetable oils with fewer sugary snacks may lower the risk of celiac disease. Several studies have shown that vaccination against rotavirus (a common virus that affects the gastrointestinal system) may protect against celiac disease.

For people with celiac disease, following a strict gluten-free diet is the best way to prevent flares or recurrences of symptoms. To maintain a gluten-free diet, you may consider:

  • Avoiding all foods and beverages that contain gluten

  • Reading food labels carefully to ensure your foods are labeled as gluten-free

  • Being aware of hidden sources of gluten, such as certain medications, supplements, lipsticks, lip balms, dental products, and play-doh

  • Storing and preparing any gluten-containing foods in your home separately from gluten-free foods to avoid cross-contamination

  • Dining out at restaurants that offer a gluten-free menu and letting your server know you have celiac disease

Related Conditions

People with celiac disease are at an increased risk of developing certain health conditions, including:

  • Type 1 diabetes: Celiac disease and type 1 diabetes have shared genetic risk factors and immune system abnormalities. About 6% of people with celiac disease also have type 1 diabetes.

  • Autoimmune disorders: People with celiac disease are at an increased risk of developing other autoimmune disorders, such as arthritis, Addison’s disease, and Hashimoto’s thyroiditis. Delayed diagnosis of celiac disease increases the risk of developing another autoimmune disorder.

  • Dermatitis herpetiformis: A chronic skin condition that causes an itchy, blistering rash that commonly occurs on the elbows, knees, and buttocks. Dermatitis herpetiformis and celiac disease are caused by an abnormal immune system response to gluten.

  • Mental health conditions: Celiac disease is associated with an increased risk of certain mental health conditions, including mood disorders, anxiety disorders, eating disorders, and attention deficit hyperactivity disorder (ADHD).

  • Osteoporosis: Celiac disease can lead to calcium and vitamin D malabsorption, which increases the risk of osteoporosis, a condition that causes weakened bones.

  • Infertility: People with untreated celiac disease may have difficulty getting pregnant and have a higher risk of miscarriage and premature birth.

Living With Celiac Disease

Celiac disease is a chronic condition that requires lifelong management. Adjusting to a strict gluten-free diet can be challenging. At first, it might seem daunting to eliminate gluten-containing foods from your diet, but there are plenty of healthy and delicious gluten-free options available.

You can access many resources online to find new and exciting ways to enjoy food that doesn’t contain gluten. If you feel discouraged, remember that following a gluten-free diet can significantly improve your symptoms and prevent long-term health complications. Take it one day at a time, work with your healthcare provider, and ask family and friends for support to make the transition easier.

Frequently Asked Questions

How can you tell the difference between IBS and celiac disease?

IBS and celiac disease can have similar symptoms, such as bloating, gas, and diarrhea. But celiac disease is an autoimmune disorder triggered by gluten consumption, whereas IBS is a functional disorder that affects your bowel function, or ability to urinate and poop. A blood test for celiac antibodies and a biopsy to confirm the presence of intestinal damage can distinguish between the two conditions.

What happens if celiac disease goes untreated?

If left untreated, celiac disease can lead to severe malabsorption, which can cause malnutrition, anemia, osteoporosis, infertility, and an increased risk of certain cancers. In addition, untreated celiac disease can result in long-term damage to the small intestine, leading to permanent complications even if the condition is eventually diagnosed and treated.

What is the life expectancy of a person with celiac disease?

Most people with celiac disease have an average life expectancy if the condition is appropriately managed. However, some research suggests that people with celiac disease have a slightly shorter lifespan than those without the condition. This may be because celiac disease increases the risk of certain health complications, which can greatly affect a person's quality of life and overall health outcomes.

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