What is Celiac Disease? Symptoms, Causes & Treatment Guide

Overview of Celiac Disease

What Is Celiac Disease?

Celiac disease is an inherited autoimmune disease. It is also called celiac sprue or gluten-sensitive enteropathy. Notably, coeliac disease is the English spelling of “celiac disease.”

In people with this condition, the immune system mistakes gluten as a harmful substance; therefore, eating gluten triggers an immune reaction that leads to the formation of antibodies that attack the gluten molecules in the small intestine. Over time, these attacks damage villi, the fingerlike extensions in the mucosa (lining) of the small intestine, reducing the absorption of nutrients. 

What is Gluten?

Gluten is a protein found in wheat, barley, rye, and other grains that are staples in Western diets and commonly found in breads, pastas, and cereals. In addition, gluten is a food additive in many packaged and processed foods such as soups and sauces. Beer is made from barley and rye and also contains gluten.

Note: Having celiac disease is different from being gluten sensitive or having a gluten allergy, which is a food intolerance. People who are gluten-sensitive can develop distressing symptoms after eating gluten, but they don’t have antibodies that damage their small intestines.

How Serious Is Celiac Disease?

Celiac disease is a serious autoimmune condition. It is more than just a food allergy or food intolerance to gluten. Food intolerances cause uncomfortable gastrointestinal symptoms, but they do not damage the intestines. 

People with a celiac disease diagnosis not only experience digestive symptoms such as stomach pain, gas, and bloating after eating foods containing gluten, but can also develop nutritional deficiencies. This is because celiac disease causes damage to the villus (finger-like extension) in the intestinal lining of the small intestine. As a result, the small intestine cannot properly absorb nutrients from food. 

Untreated celiac disease can lead to nutrient deficiencies, malnutrition, and other related serious complications such as iron deficiency anemia. In children, untreated celiac disease can lead to stunted growth and development.

Lactose Intolerance vs Celiac Disease: What’s the Difference?

Lactose intolerance and celiac disease are both digestive system conditions, but they have different causes and symptoms. 

People with lactose intolerance develop digestive symptoms after eating dairy products that contain a type of sugar called lactose. These symptoms are uncomfortable, but do not cause damage to the digestive tract. 

Celiac disease is an autoimmune disorder in which the immune system makes antibodies against gluten and attacks the small intestine.

Is Celiac Disease the Same As Irritable Bowel Syndrome?

No, celiac disease and irritable bowel syndrome (IBS) are different conditions. They can cause similar symptoms. However, celiac disease is an autoimmune disease that occurs due to an abnormal immune response that damages the small intestine. Unlike celiac disease, IBS does not damage the gastrointestinal tract. 

Symptoms of Celiac Disease

Symptoms of celiac disease are nonspecific and can vary widely from person to person. This can make it challenging to have celiac disease diagnosed. Some people with celiac disease may not have any symptoms, while others may have mild indigestion and other digestive symptoms after eating gluten. It is only after celiac disease damages the small intestine that more severe symptoms develop, such as symptoms of nutritional deficiencies.

Gastrointestinal Symptoms of Celiac Disease

• Stomach pain

• Gas

• Bloating

• Constipation

• Diarrhea

• Steatorrhea (fatty stools that are pale in color and foul-smelling)

Dermatitis Herpetiformis or Gluten Rash

Around 1 in 6 people with celiac disease develop a chronic skin condition called dermatitis herpetiformis, commonly called a “celiac rash” or “gluten rash.” It is caused by the same antibodies that damage the small intestine in people with celiac disease. Dermatitis herpetiformis consists of itchy clusters of blisters that commonly develop on the scalp, elbows, buttocks, and knees.

Severe Symptoms from Health Problems Related to Celiac Disease

Symptoms of Iron-Deficiency Anemia 

• Fatigue or tiredness

• Weakness

• Pale skin

• Cold, clammy hands

• Brittle nails that are concave in shape and break easily

• Mouth ulcers

• Headaches

Symptoms of Malnutrition

• Unexplained weight loss

• Muscle wasting (reduced muscle bulk and tone)

• Defects in dental enamel (translucent teeth, pitting, mottling)

• Menstrual abnormalities

• Difficulty getting pregnant in women of childbearing age

• Mood changes, such as depression

• Failure to thrive and growth delays in children

Other Celiac Disease Symptoms from Nutritional Deficiencies

• Joint pain

• Peripheral neuropathy (numbness and tingling in the hands and feet)

• Osteomalacia and osteoporosis (weak bones due to calcium and vitamin D deficiencies)

• Liver disease

• Increased risk of heart disease (coronary artery disease)

• Increased risk of small bowel cancers

Save On Your Celiac Disease Treatments

Causes of Celiac Disease

Genetics

Celiac disease is an inherited disorder. It is common in people of Northern European descent. Approximately 1% of people in Europe and North America have celiac disease. Your risk of developing celiac disease is 10% if you have a first-degree relative (parent, sibling, or child) with this condition. 

The majority of people diagnosed with celiac disease have an identifiable gene mutation in the HLA-DQ2 or HLA-DQ8 gene.

People with inherited chromosomal disorders like Down syndrome and other autoimmune diseases are more likely to develop celiac disease. Scientists believe these autoimmune diseases may be caused by mutations in the same genes and/or trigger each other.

Environmental Factors

As mentioned, celiac disease is a genetic disorder. It is caused by a genetic mutation (change in a gene) that is passed down from parent to child. But not everyone with a family history or gene mutation develops celiac disease. And not everyone who has celiac disease has an identifiable gene mutation. Therefore, other factors appear to trigger it. 

Scientists believe some people get celiac disease after experiencing severe physical stress which stretches their immune system to the limit, causing it to misfire. This would explain why celiac disease often develops after a stressful health event such as a severe illness, surgery, pregnancy, or severe emotional stress. Other theories suggest the involvement of gut microorganisms. More research is needed to find out the exact causes of celiac disease.

Risk Factors for Celiac Disease

Celiac disease, like many other autoimmune disorders, is at least twice as common in females than in males. Risk factors for celiac disease include:

• Female gender

• Caucasian race

• Family history of celiac disease

• Inherited chromosomal disorders such as Down syndrome, Turner syndrome, or Williams syndrome

• Autoimmune disorders such as rheumatoid arthritis, multiple sclerosis, type 1 diabetes, Addison’s disease, microscopic colitis

How Do Doctors Diagnose Celiac Disease?

Age at Onset

Symptoms of celiac disease can develop at any age, but they typically appear after a child starts eating gluten in solid foods such as cereals and biscuits. Healthcare care professionals commonly diagnose celiac disease in two age groups: 

• Early childhood (between 8 and 12 months old)
• Middle-age (between 40 and 60 years old)

Tests and Procedures

In addition to a medical and family history and physical exam, healthcare providers can test for celiac disease using two methods. These two tests are usually done together to reach a confirmed diagnosis of celiac disease. 

The first is a blood test in which healthcare providers look for gluten antibodies in a small sample of your blood. The second is a small intestine biopsy in which healthcare providers take a tissue sample from your small intestine through a minimally invasive procedure called an upper endoscopy. The tissue sample is sent to the laboratory to be examined under the microscope, looking for small intestinal damage. 

If the initial tests show celiac disease, healthcare providers typically order further tests to identify vitamin and mineral deficiencies, such as vitamin deficiency anemias, vitamin D deficiency, and calcium deficiency.

Genetic Testing for Celiac Disease

Mutations in two genes (HLA-DQ2 or HLA-DQ8) are linked to celiac disease. Most people with celiac disease have a mutation in at least one of these genes. Rarely, does someone without a genetic mutation develop celiac disease, possibly due to some of the environmental factors listed above. 

Doctors can perform genetic tests through blood tests to assess your risk of celiac disease and the risk of passing it down to your children. A positive test result on genetic testing does not mean you will definitely get celiac disease. It means you are at risk of developing celiac disease. 

Treatment and Management: How Do Doctors Treat Celiac Disease?

According to the National Institute for Diabetes and Digestive and Kidney Diseases, there is no way to stop your body’s reaction to gluten. So, the only way of treating celiac disease is to avoid gluten. When you no longer eat gluten, your small intestine can heal and start absorbing nutrients properly. However, people with celiac disease have to stay on a strict gluten-free diet lifelong to avoid damage to the small intestine. 

Medications and Supplements

Other treatments that healthcare professionals may prescribe for people with celiac disease include:

• Dietary supplements to correct serious nutrient deficiencies.

• Medications such as dapsone to treat dermatitis herpetiformis.

• Corticosteroids to reduce inflammation and promote faster healing of the small intestine lining.

Living With Celiac Disease

Dietary Changes and Lifestyle Adjustments

Eating a gluten-free diet means avoiding most grains (pastas, breads, cereals, and processed foods) as they contain wheat, rye, and barley. Here are some tips to help you avoid gluten:

• Know that gluten has other names such as cracked wheat, wheat germ, wheat bran, wheat starch, hydrolyzed wheat protein, emmer, einkorn, kamut, and spelt. 

• Choose packaged foods that are labeled gluten-free. 

• Read the ingredient list carefully, especially caramel-colored food seasonings and sauces, which often contain gluten. 

• Learn to recognize hidden sources of gluten, such as beer, candy, potato chips, tortilla chips, cold cuts and deli meats (hot dogs, sausages, salami), french fries, gravies, brown rice syrup, Bouillon cubes, Matzo, sauces, seasonings, soups, soy sauce, rice mixes, and more.

• Avoid grains such as triticale (a cross between rye and wheat), graham flour, farina, semolina, self-rising flour, durum flour, corn, and rice products which may be contaminated with gluten if they're made in the same factories. 

• Replace wheat flour with oats, quinoa, buckwheat, nut or bean flours, soy, amaranth, potato, rice, sorghum, chickpea, Bengal gram, corn flour, tapioca starch, and arrowroot. 

• Prepare gluten-containing and gluten-free foods in separate cooking utensils and use separate cutting boards, dishes, and cutlery. 

• Check if a restaurant has a gluten-free menu before eating out. 

• Ask your doctor or pharmacist if any of your prescription drugs, over-the-counter medications, dietary supplements, or herbal products contain wheat or wheat byproducts.

• Eat plenty of meat, fish, fruits, and vegetables to ensure proper nutrition. 

Support Systems and Resources

• Celiac Disease Foundation (CDF) for news and information on clinical trials and new treatments for celiac disease.

• Celiac.com for resources and information on wheat allergy, gluten-free diets, and other health issues related to celiac disease. 

• Celiac Chat for a mentorship program supported by Columbia University’s Celiac Disease Center for children and adolescents with celiac disease. 

• Celiac Community Foundation of Northern California for awareness and education on evidence-based treatments for celiac disease and non-celiac gluten sensitivity.

• Celiac Support Association for information and educational materials for people living with celiac disease and dermatitis herpetiformis.

• Gluten Intolerance Group of America for programs to increase awareness and obtain accurate, up-to-date information on celiac disease. 

• Raising Our Celiac Kids (R.O.C.K) for free support group for families on gluten-free diets for gluten intolerance, gluten allergies, celiac disease, ADD/ADHD, autism, or personal preferences.

Prognosis, Monitoring, and Follow-Up: Does Celiac Ever Go Away?

Most people with celiac disease notice an almost immediate improvement in their symptoms after they stop eating gluten. However, it can take several months after eliminating gluten before the small intestine is fully healed.

Most of the damage done by celiac disease is reversible. A small number of people continue to have symptoms of celiac disease after they stop eating gluten. Nonresponsive celiac disease may be due to: 

• Eating certain gluten-containing foods without realizing it.

• Secondary conditions that cause digestive issues and symptoms similar to celiac disease.

• Truly refractory celiac disease that does not respond to a gluten-free diet.

Make sure you keep all your follow-up appointments with your healthcare professionals to ensure celiac disease is under control in the long term.

How Long Do People With Celiac Disease Live?

Most people with celiac disease have a normal life-expectancy provided they manage the condition through a lifelong adherence to a gluten-free diet. Gluten is not an essential nutrient and can be safely removed from diet and replaced with gluten-free foods.