Answers to questions families often have about caring for their child with celiac disease

Celiac disease (CD) is a chronic genetic disease, the predominant feature of which is reversible small intestinal mucosal inflammation. This inflammation is triggered and perpetuated by dietary exposure to the gliadin peptide contained in gluten and found in wheat, barley, rye, and possibly oats. Although the exact cause is unknown, you are more likely to manifest celiac disease if you have a family member with celiac disease or with another autoimmune disease, such as type 1 diabetes, rheumatoid arthritis, and some kinds of thyroid disease. You are more likely to have celiac disease if you are of Northern European ancestry. To manifest celiac disease, one must have the genetic predisposition, be exposed to gluten, and then be exposed to a poorly understood environmental trigger.

Symptoms that are primarily gastrointestinal and growth related include:

• chronic diarrhea
• flatulence
• distention
• weight loss, or failure to gain expected weight
• deceleration in linear growth or unexplained short stature
• constipation
• abdominal pain
• indigestion or nausea and/or vomiting
• bloating or distention
• anorexia

Celiac disease is a multi-system disorder, often involving non-gastrointestinal symptoms/signs. These can vary considerably, some being related to secondary nutrient deficiencies, and may include:

• unexplained iron deficiency anemia resistant to iron supplementation (a common presenting sign)
• delayed puberty, infertility
• fatigue
• protein-calorie malnutrition
• recurrent aphthous stomatitis
• defects in dental enamel
• vitamin deficiencies
• osteoporosis
• other autoimmune endocrine disorders, such as thyroiditis
• neurological symptoms, including ataxia and peripheral neuropathy.

Diagnosis of celiac disease is made by blood testing, although an upper gastrointestinal endoscopy (EGD) needs to be done to confirm the diagnosis of celiac disease. During the endoscopy, a small tissue sample (biopsy) is taken from the small bowel. In celiac disease, this tissue will look inflamed and damaged when it is looked at under the microscope.

Complete gluten restriction should result in complete cessation of the inflammatory response and subsequent normal reproductive capability and lifespan. However, complete gluten exclusion is difficult to maintain for a lifetime. Ongoing inflammation, even in the absence of symptoms, causes chronically increased metabolic demands, malabsorption of macro- and micro-nutrients, and increased cell proliferation, with risk of intestinal oncogenesis, particularly small bowel lymphoma.

Four to 12 percent of an affected person's first-degree relatives will also have the disease.

Treatment of celiac disease consists of complete elimination of gluten-containing foods from the diet and is monitored by clinical response (including growth response), serologic marker response, and small intestinal mucosa histologic response.

Untreated, a child with celiac disease may have growth problems, diarrhea and bloating, iron deficiency anemia, and other, possibly quite severe, problems. Treatment however, is not simple. It involves avoidance of wheat, barley, rye, and possibly oats, usually for life. This diet is more complicated than the average American diet and may be more expensive, although as many grocery stores now have gluten-free sections it is easier to use than ever before.

There are several reasons not to put a child on a gluten-free diet without medical confirmation that he/she has celiac disease. Perhaps most importantly, a biopsy may be falsely negative if performed when the child is not being exposed to gluten. The gluten-free diet is very restrictive and can be difficult and expensive. Without careful nutritional guidance, children on the diet may not receive all the nutrients they need, particularly some vitamins and other elements that are essential for growth. Some children on the gluten-free diet will become obese if their growth is not closely monitored. Your physician(s) and a dietician should be involved in starting and overseeing the diet.

There is no evidence that the gluten-free diet helps children with autism. For more information, see [Millward: 2008].