Celiac disease (gluten-sensitive enteropathy), sometimes called sprue or coeliac, is an immune reaction to eating gluten, a protein found in wheat, barley and rye.
If you have celiac disease, eating gluten triggers an immune response in your small intestine. Over time, this reaction damages your small intestine's lining and prevents absorption of some nutrients (malabsorption). The intestinal damage often causes diarrhea, fatigue, weight loss, bloating and anemia, and can lead to serious complications.
In children, malabsorption can affect growth and development, in addition to the symptoms seen in adults.
There's no cure for celiac disease — but for most people, following a strict gluten-free diet can help manage symptoms and promote intestinal healing.
The signs and symptoms of celiac disease can vary greatly and are different in children and adults. The most common signs for adults are diarrhea, fatigue and weight loss. Adults may also experience bloating and gas, abdominal pain, nausea, constipation, and vomiting.
However, more than half of adults with celiac disease have signs and symptoms that are not related to the digestive system, including:
- Anemia, usually resulting from iron deficiency
- Loss of bone density (osteoporosis) or softening of bone (osteomalacia)
- Itchy, blistery skin rash (dermatitis herpetiformis)
- Damage to dental enamel
- Mouth ulcers
- Headaches and fatigue
- Nervous system injury, including numbness and tingling in the feet and hands, possible problems with balance, and cognitive impairment
- Joint pain
- Reduced functioning of the spleen (hyposplenism)
- Acid reflux and heartburn
In children under 2 years old, typical signs and symptoms of celiac disease include:
- Chronic diarrhea
- Swollen belly
- Failure to thrive
- Poor appetite
- Muscle wasting
Older children may experience:
- Weight loss
- Short stature
- Delayed puberty
- Neurological symptoms, including attention-deficit/hyperactivity disorder (ADHD), learning disabilities, headaches, lack of muscle coordination and seizures
Dermatitis herpetiformis is an itchy, blistering skin disease that stems from intestinal gluten intolerance. The rash usually occurs on the elbows, knees, torso, scalp and buttocks.
Dermatitis herpetiformis is often associated with changes to the lining of the small intestine identical to those of celiac disease, but the disease may not produce noticeable digestive symptoms.
Doctors treat dermatitis herpetiformis with a gluten-free diet or medication, or both, to control the rash.
When to see a doctor
Consult your doctor if you have diarrhea or digestive discomfort that lasts for more than two weeks. Consult your child's doctor if your child is pale, irritable or failing to grow or has a potbelly and foul-smelling, bulky stools.
Be sure to consult your doctor before trying a gluten-free diet. If you stop or even reduce the amount of gluten you eat before you're tested for celiac disease, you may change the test results.
Celiac disease tends to run in families. If someone in your family has the condition, ask your doctor if you should be tested. Also ask your doctor about testing if you or someone in your family has a risk factor for celiac disease, such as type 1 diabetes.
Celiac disease occurs from an interaction between genes, eating foods with gluten and other environmental factors, but the precise cause isn't known. Infant feeding practices, gastrointestinal infections and gut bacteria might contribute to developing celiac disease.
Sometimes celiac disease is triggered — or becomes active for the first time — after surgery, pregnancy, childbirth, viral infection or severe emotional stress.
When the body's immune system overreacts to gluten in food, the reaction damages the tiny, hair-like projections (villi) that line the small intestine. Villi absorb vitamins, minerals and other nutrients from the food you eat. If your villi are damaged, you can't get enough nutrients, no matter how much you eat.
Some gene variations appear to increase the risk of developing the disease. But having those gene variants doesn't mean you'll get celiac disease, which suggests that additional factors must be involved.
The rate of celiac disease in Western countries is estimated at about 1 percent of the population. Celiac disease is most common in Caucasians; however, it is now being diagnosed among many ethnic groups and is being found globally.
Celiac disease can affect anyone. However, it tends to be more common in people who have:
- A family member with celiac disease or dermatitis herpetiformis
- Type 1 diabetes
- Down syndrome or Turner syndrome
- Autoimmune thyroid disease
- Microscopic colitis (lymphocytic or collagenous colitis)
- Addison's disease
- Rheumatoid arthritis
Untreated, celiac disease can cause:
- Malnutrition. The damage to your small intestine means it can't absorb enough nutrients. Malnutrition can lead to anemia and weight loss. In children, malnutrition can cause slow growth and short stature.
- Loss of calcium and bone density. Malabsorption of calcium and vitamin D may lead to a softening of the bone (osteomalacia or rickets) in children and a loss of bone density (osteoporosis) in adults.
- Infertility and miscarriage. Malabsorption of calcium and vitamin D can contribute to reproductive issues.
- Lactose intolerance. Damage to your small intestine may cause you to experience abdominal pain and diarrhea after eating lactose-containing dairy products, even though they don't contain gluten. Once your intestine has healed, you may be able to tolerate dairy products again. However, some people continue to experience lactose intolerance despite successful management of celiac disease.
- Cancer. People with celiac disease who don't maintain a gluten-free diet have a greater risk of developing several forms of cancer, including intestinal lymphoma and small bowel cancer.
- Neurological problems. Some people with celiac disease may develop neurological problems such as seizures or peripheral neuropathy (disease of the nerves that lead to the hands and feet).
In children, celiac disease can also lead to failure to thrive, delayed puberty, weight loss, irritability and dental enamel defects, anemia, arthritis, and epilepsy.
Nonresponsive celiac disease
As many as 30 percent of people with celiac disease may not have, or be able to maintain, a good response to a gluten-free diet. This condition, known as nonresponsive celiac disease, is often due to contamination of the diet with gluten. Therefore it's important to work with a dietitian.
People with nonresponsive celiac disease may have additional conditions, such as bacteria in the small intestine (bacterial overgrowth), microscopic colitis, poor pancreas function, irritable bowel syndrome or intolerance to disaccharides (lactose and fructose). Or, they may have refractory celiac disease.
Refractory celiac disease
In rare instances, the intestinal injury of celiac disease persists and leads to substantial malabsorption, even though you have followed a strict gluten-free diet. This combination is known as refractory celiac disease.
If you continue to experience signs and symptoms despite following a gluten-free diet for six months to one year, your doctor may recommend further testing and look for other explanations for your symptoms. Your doctor may recommend treatment with a steroid to reduce intestinal inflammation, or a medication that suppresses your immune system. All patients with celiac disease should be followed up to monitor the response of their disease to treatment.