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FAQ Celiac Disease: Symptoms, Causes, Diagnosis & Treatment

Frequently Asked Questions | Celiac Disease

Your celiac disease questions. Answered.

Celiac disease is an autoimmune disorder. The immune system of an individual with celiac disease responds to the gluten-protein in wheat, barley, and rye with antibodies. Those antibodies attack the villi of the small intestine. Because the intestinal villi are essential for absorbing nutrients, the damage to the small intestine results in malnutrition.

Celiac disease is an autoimmune disease in genetically predisposed individuals.

In patients with celiac disease, the immune system reacts to gluten, a naturally occurring protein in wheat, barley, and rye.

Because celiac-caused malabsorption has the potential to affect most body systems, there are over 200 possible symptoms of celiac disease.

Common celiac disease symptoms in adults are:

  • Anemia
  • Anxiety
  • Abdominal pain
  • Bloating and gas
  • Bone or joint pain
  • Canker sores
  • Cognitive impairment
  • Constipation
  • Diarrhea
  • Depression
  • Dermatitis herpetiformis (itchy skin rash)
  • Fatigue
  • Headaches or migraines
  • Hyposplenism
  • Joint pain
  • Missed periods
  • Mouth ulcers and canker sores
  • Nausea and vomiting
  • Osteoporosis and osteomalacia (bone softening)
  • Peripheral neuropathy
  • Seizures
  • Weight loss

Common signs of celiac disease in children include:

  • abdominal bloating and pain
  • anemia
  • anxiety and depression
  • attention deficit hyperactivity disorder (ADHD)
  • bone or joint pain
  • canker sores inside the mouth
  • chronic diarrhea
  • constipation
  • delayed growth and puberty
  • dental enamel defects
  • failure to thrive
  • fatigue
  • foul-smelling, pale stools
  • gas
  • irritability and behavioral issues
  • seizures or migraines
  • unexplained infertility
  • vitamin deficiency
  • vomiting and nausea
  • weight loss
  • short stature

Blood Tests

Your doctor will probably start with a non-invasive, celiac diagnostic panel (a blood test) to look for relevant antibodies: Anti-tissue transglutaminase (tTG) and Anti-endomysium (EMA). A positive antibody result is highly suggestive of celiac disease.

The celiac panel also includes a test for total serum IgA. Some individuals have IgA deficiency, which could lead to a false negative on a celiac panel. If the total IgA is low, the doctor should order a test called tTg-IgG, which measures another antibody related to celiac disease.

Patients must be eating gluten daily, for the tests to be accurate. Do not start on the gluten-free diet until you have been instructed to do so by a doctor with celiac expertise, such as your gastroenterologist. If you have already begun the gluten-free diet, consult with your doctor about whether and how to reintroduce gluten into your diet for testing or the possibility of alternative methods of diagnosis.


If antibody tests and/or symptoms indicate celiac disease, a gastroenterologist will conduct a biopsy of the small intestines, taking several tissue samples. Those samples will then be analyzed to look for damaged villi and identify the level of damage.

The intestinal biopsy is still considered the gold standard of a celiac diagnosis in the United States. However, the European Society for the Pediatric Gastroenterology, Hepatology and Nutrition has specific guidelines where other criteria could qualify a pediatric patient for a celiac diagnosis without a biopsy. These guidelines apply to children in Europe. The American College of Gastroenterology has not removed the biopsy as a necessary step for a firm diagnosis of celiac disease.

There are two genes correlated with celiac disease: DQ 2 and DQ 8. Carrying one or both genes does not mean that an individual has celiac disease, only that celiac disease is possible. Without either of these genes, celiac disease is confidently ruled out.

Because of the genetic component of celiac disease, all first-degree relatives should be tested, regardless of symptoms.

Patients with symptoms should be tested.

Due to a higher incidence of celiac disease than the general population, individuals with the following should also be tested:

  • A first-degree relative (parent, child, sibling) with celiac disease
  • Autoimmune conditions: type 1 diabetes, thyroid disease, liver disease
  • Down syndrome
  • Turner syndrome
  • Williams-Beuren syndrome
  • IgA deficiency

While there is significant research and development of treatment options, the only current treatment for celiac disease is the gluten-free diet.

Life-long adherence to the gluten-free diet is essential. Compliance with the diet can be challenging and is certainly a major life change. Your doctor can refer you to a licensed dietician for assistance adjusting to the gluten-free diet.

In most cases of celiac disease, the gluten-free diet will heal the intestinal villi, treat symptoms, and prevent long-term complications of celiac disease.

Regular follow-up with your doctor is an important component of your treatment.

Sources: American College of Gastroenterology, Beyond Celiac, Celiac Disease Foundation, European Society for the Pediatric Gastroenterology, Hepatology and Nutrition, National Institute of Health, University of Chicago Celiac Disease Center

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