The signs and symptoms of celiac disease can vary greatly.
Although the classic signs are diarrhea and weight loss, most people with celiac disease experience few or no digestive signs or symptoms. Only about one-third of people diagnosed with celiac disease experience diarrhea, and about half have weight loss.
Twenty percent of people with celiac disease have constipation, and 10 percent are obese.
In addition to digestive problems, other signs and symptoms of celiac disease include:
- 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
- Headaches and fatigue
- Nervous system injury, including numbness and tingling in the feet and hands, and possible problems with balance
- Joint pain
- Reduced functioning of the spleen (hyposplenism)
- Acid reflux and heartburn
As many as 75 percent of children with celiac disease are overweight or obese. Digestive signs and symptoms are experienced by 20 to 30 percent of children with the condition although the precise signs and symptoms differ by age.
In infants, typical signs and symptoms of celiac disease include:
- Chronic diarrhea
- Swollen belly
- Failure to thrive or weight loss
Older children may experience:
- Short stature
- Delayed puberty
- Neurologic symptoms, including attention-deficit/hyperactivity disorder (ADHD), learning disability, headaches and lack of muscle coordination
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 that of celiac disease, but the disease may not produce noticeable digestive symptoms.
Dermatitis herpetiformis is treated with a gluten-free diet and medication 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 he or she 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 eating gluten 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.
The precise cause of celiac disease isn't known.
When the body's immune system overreacts to gluten in food, the immune 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. Normally, villi resemble the deep pile of a plush carpet, on a microscopic scale. The damage resulting from celiac disease makes the inner surface of the small intestine appear more like a tile floor. As a result your body is unable to absorb nutrients necessary for health and growth.
A study done by Mayo Clinic and the National Institutes of Health estimates that about 1 in 141 people in the U.S. have celiac disease, although the disease often goes undiagnosed. Celiac disease is most common in Caucasians.
Some gene changes (mutations) appear to increase the risk of developing the disease. But having those gene mutations doesn't mean you'll get celiac disease — meaning other factors must be involved.
Sometimes celiac disease is triggered — or becomes active for the first time — after surgery, pregnancy, childbirth, viral infection or severe emotional stress.
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
- Sjogren's syndrome
- Microscopic colitis (lymphocytic or collagenous colitis)
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 stunted growth and delayed development.
- 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.
Nonresponsive celiac disease
As many as 15 percent of people with celiac disease may not have or be able to maintain a good response to the gluten-free diet. This condition, known as nonresponsive celiac disease, is often due to contamination of the diet with gluten.
A Mayo Clinic study found that people with nonresponsive celiac disease often have additional conditions, such as bacteria in the small intestine (bacterial overgrowth), colitis, poor pancreas function or irritable bowel syndrome.
Refractory celiac disease
In rare instances, the intestinal injury of celiac disease continues even though you follow a strict gluten-free diet. This 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 to monitor the celiac disease 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.