Celiac disease is a lifelong autoimmune disease—not a food allergy—in which the immune system reacts to gluten, a protein found in wheat, barley, and rye. This immune reaction damages the lining of the small intestine, including the tiny finger-like projections called villi that absorb nutrients. Over time, this damage can interfere with your child's growth, nutrition, and overall health if left untreated.
Why the Small Intestine Matters
The small intestine is where your child's body absorbs the nutrients needed for healthy growth and development. When celiac disease damages the lining of the small intestine, it becomes harder to absorb these nutrients properly.
Without treatment, celiac disease can lead to complications such as:
Poor growth or short stature
Iron-deficiency anemia
Low bone density (osteopenia or osteoporosis)
In rare cases, certain types of intestinal cancer
Symptoms
Symptoms of celiac disease can vary widely from child to child. While many children have digestive symptoms, others have symptoms that affect different parts of the body—and some have no symptoms at all. Because of this, celiac disease can sometimes be difficult to recognize and diagnose.
Digestive symptoms may include:
Chronic diarrhea
Constipation
Abdominal pain
Bloating
Vomiting
Poor weight gain or weight loss
Loss of appetite
Symptoms outside the digestive tract may include:
Iron-deficiency anemia
Poor growth or short stature
Dental enamel defects
Elevated liver enzymes
Dermatitis herpetiformis (an itchy skin rash)
Fatigue
Who is at Higher Risk
Certain autoimmune and genetic conditions are associated with an increased risk of celiac disease. Some examples include:
Type 1 diabetes
Autoimmune thyroid disease
IgA deficiency
Down syndrome
Turner syndrome
Williams syndrome
Diagnosis of Celiac Disease
A Key Step Before Diagnosis
If celiac disease is suspected, it is important that your child continues eating gluten-containing foods until all testing is complete. Starting a gluten-free diet too soon can interfere with testing and may lead to inaccurate or inconclusive results.
The diagnostic evaluation typically includes:
A complete medical history and physical examination
Blood tests that look for antibodies associated with celiac disease
If the blood tests suggest celiac disease, an upper endoscopy with small intestine biopsies may be recommended to confirm the diagnosis.
What is an endoscopy?
Endoscopy is the gold standard and most reliable way to confirm a diagnosis of celiac disease. During the procedure, a thin, flexible tube with a tiny camera is gently passed through the mouth, down the esophagus, through the stomach, and into the small intestine while your child is comfortably asleep under anesthesia. The doctor carefully takes a few tiny biopsies from the lining of the small intestine, which are examined under a microscope for changes that are characteristic of celiac disease.
Because celiac disease damage can be patchy—leaving one spot perfectly healthy while an adjacent area is injured—the doctor will take multiple samples to ensure an accurate diagnosis. These samples are then analyzed under a microscope to check for damage to the villi (the tiny, finger-like projections lining the intestine).
If you or your child's pediatrician suspects celiac disease, these are the first steps to take:
1. Ask about celiac screening blood tests. Initial blood tests ordered by your child's pediatrician can help determine whether further evaluation is needed and may help expedite your child's evaluation in our Celiac Disease Program.
2. Don't start a gluten-free diet yet. Although it may seem like the right thing to do, it's important that your child continues eating gluten-containing foods until all testing is complete. Starting a gluten-free diet too soon can interfere with testing and make it more difficult to confirm the diagnosis.
Treatment of celiac disease
A gluten-free lifestyle is currently the only effective treatment for celiac disease. Once gluten is removed from the diet, the small intestine can heal, allowing nutrients to be absorbed normally. With the right care and ongoing support, most children with celiac disease can lead healthy, active lives.
Following a diagnosis, we recommend:
Regular follow-up with your child's pediatric gastroenterologist and registered dietitian to monitor healing, nutrition, and growth.
Screening for first-degree family members (parents, siblings, and children), as celiac disease has a strong genetic component. Additional screening may also be recommended for individuals at higher risk.
