What is Celiac Disease?

Celiac Disease is an autoimmune disease (abnormal immune response against your own body) caused by an abnormal response to gluten, a protein in wheat and some other grains. Celiac Disease is also known by the names Celiac Sprue and Gluten Sensitive Enteropathy. Celiac Disease occurs in about 1% of the general population.

What causes Celiac Disease?

Celiac Disease is, at least in part, genetically mediated. Almost all people who develop Celiac Disease have either the HLA-DQ2 or the HLA-DQ8 gene or both. Not everyone with the DQ2 or DQ8 gene develops Celiac Disease, but the presence of one of these genes is a prerequisite.

In addition, it is possible that activation of yet another gene is also required to develop Celiac Disease. An alternative theory is that some other triggering event is required such as an infection. Adenovirus and rotavirus have been implicated in some studies.

What are the Symptoms of Celiac Disease?

Some people with Celiac Disease have few or no symptoms. Some people with Celiac Disease only recognize that they have had symptoms after they are treated and in retrospect notice that the symptoms went away.

People with Celiac Disease most commonly notice pain, gas and bloating and diarrhea when they eat gluten, a protein found in wheat, barley and rye. They may have a poor appetite (anorexia). They may also experience constipation at times.

These symptoms are in part due to villous atrophy (The absorbing fingers inside the gut wall are blunted.) and hypoplasia (not fully developed) of the small bowel architecture. This blunting of the villa leads to poor absorption of carbohydrates. Which, in turn, leads to bacterial overgrowth.

Children with Celiac Disease may not grow normally. They may come to medical attention for poor weight gain or short stature or both. Pubertal delays may also manifest themselves.

Because of the malabsorption caused by Celiac Disease various nutritional deficiencies may develop:

• Some people with Celiac Disease may have anemia from iron deficiency.
• Vitamin K deficiency may cause abnormal bleeding.
• Vitamin D and calcium deficiencies may lead to osteopenia or osteoporosis (loss of bone).
• Patients with B-6 deficiency may develop neurologic (nerve) symptoms.

Some may develop a skin rash called dermatitis herpetiformis. It is a raised red rash with clear blisters. It itches and may be confused with poison ivy. It can leave scars. Biopsy of the rash may lead to the diagnosis of Celiac Disease.

Patients with Celiac Disease may develop defective dental enamel. This, in turn, may lead to frequent tooth decay.

Mouth ulcers and lactose intolerance are present in some patients. Liver disease and arthritis also can occur. There is also an increased risk of developing some types of lymphomas and gastrointestinal cancers.

There is an association with hyposplenism (The spleen does not function properly.) that in turn leads to an increase in the infection rate.

There is an increased risk of developing Celiac Disease in patients with:

• Diabetes
• Thyroid disease
• IgA deficiency
• Down Syndrome
• Williams Syndrome
• Turner Syndrome

What are the tests for Celiac Disease?

Blood tests (serology) are commonly used to screen for Celiac Disease as the initial test. These tests look for abnormal antibodies produced in patients with Celiac Disease. These tests must be done before any treatment is begun or the tests may be falsely negative.

Additional blood tests are done in patients who are IgA deficient as the usual screening tests depend on the presence of IgA antibodies. And many patients with Celiac Disease are also IgA deficient.

Blood tests may also reveal the presence of DQ2 and DQ8 genes discussed earlier.

As a confirmatory test, biopsy of the small intestine while the patient is on a diet rich in gluten has been the gold standard. However, as the blood tests become more sensitive, some clinicians feel comfortable diagnosing Celiac Disease without requiring a biopsy. Biopsy may only be requested when the blood tests are equivocal.

Who should be tested?

Patients with the following symptoms, if not otherwise explained, who are on a gluten containing diet:

• Failure to thrive
• Persistent diarrhea
• Chronic constipation, recurrent abdominal pain, or vomiting
• Dental enamel hypoplasia of permanent teeth (symmetric distribution)
• Dermatitis herpetiformis
• Idiopathic (unknown cause) short stature
• Significant pubertal delay
• Iron deficiency anemia not responsive to supplementation

Patients with the following high risk factors:

• Relatives of patients with celiac disease
• Autoimmune thyroiditis
• Type 1 diabetes
• Down syndrome
• Turner syndrome
• Williams syndrome
• Selective IgA deficiency

How is Celiac Disease Treated?

While there is no cure for Celiac Disease, most of the symptoms and consequences of Celiac Disease can be reversed or prevented by strictly following a gluten free diet. This means avoiding all wheat, barley and rye flour. Gluten is used in the production of other foods. Gluten may also contaminate other grains if they are milled in the same facility.

Patients should read food labels carefully. Finding palatable foods that are gluten free has become much easier in recent years. Newly diagnosed patients would do well to arrange for consultation with a certified dietician.

Patients may be advised by their physicians to take extra amounts of vitamins K, B-6 and D, iron, as well as extra calcium.

Patients with Celiac Disease are more prone to certain infections. It is critical that they are up to date in all immunizations, but especially the immunizations that help prevent pneumonia.

Only rarely does Celiac Disease not respond to the treatments outlined above. In such cases steroids and or immunosuppressant agents may be considered.

After six months of successful treatment, the serology should be repeated to look for a decrease in harmful antibodies.

Can Celiac Disease be prevented?

There is some early research to suggest that prolonged breast-feeding with the slow and delayed introduction of gluten into the diet may be helpful for infants at increased risk of Celiac Disease.

Asymptomatic patients whose serology is positive may choose to foloow a gluten free diet.

What should I do if I suspect my child has Celiac Disease or is at risk for Celiac Disease?

You should make an appointment with you health care provider for an extended visit. Do not start your child on a gluten free diet until instructed. Starting your child on a gluten free diet prematurely may interfere with making a clear-cut diagnosis.

Other Helpful Links
www.nlm.nih.gov/medlineplus/celiacdisease.html
www.celiac.org
www.csaceliacs.org
www.cdhnf.org
www.uptodate.com

Eric J. Slosberg, M.D., a Board-Certified pediatrician, is accepting new patients at ProMed Pediatrics in Richland, call (269) 552-2500.