Celiac Disease: A Story of Gluten, Genetics and the GI Tract

Celiac disease is an autoimmune disorder that occurs in genetically predisposed people, says pediatric gastroenterologist Dr. Elaine Barfield, Associate Professor of Clinical Pediatrics at Weill Cornell Medicine and an Associate Attending Pediatrician at NewYork-Presbyterian.

For people with celiac, the ingestion of gluten, a protein found in certain foods and non-food products, results in damage to the small intestine. And that damage leads to malabsorption of nutrients by the body, with major ramifications for health and wellness.

It is estimated that 1 percent of the world’s population has celiac disease. That’s one in a hundred people. And a person who has a first-degree relative with celiac—a parent, sibling or child—has a 10 percent chance of developing the disease.

But whichever way we calculate the prevalence of celiac, the total does not include roughly 2.5 million Americans who are living with undiagnosed celiac disease, Dr. Barfield says: “Remaining undiagnosed puts them at risk for long-term health complications.”

Read on to see her answers to your FAQs about celiac disease.

What is gluten?

Gluten is a protein found in foods that contain wheat, barley and rye such as bread, pasta, cereal, crackers, cookies and other baked goods, as well as salad dressing and even food coloring. Gluten, like the phonetically similar glue, holds food together, giving it the elasticity and texture we’re used to. Gluten is also found in certain non-food items, from Play-Doh to cosmetics, over-the-counter medications and supplements.

What are the signs and symptoms of celiac disease?

That can be a tricky question to answer. Some people may have no symptoms, while others may be highly symptomatic. The list of possible gastrointestinal symptoms includes:

  • Abdominal pain
  • Gas and bloating
  • Mouth sores
  • Nausea
  • Vomiting
  • Diarrhea or constipation
  • Poor weight gain

Non-gastrointestinal symptoms may include:

  • Delayed puberty
  • Short stature
  • Joint pain
  • Headache
  • Irritability
  • Fatigue
  • “Foggy brain”
  • Neurological problems
  • Dental enamel defects of the permanent teeth

Who should be screened for celiac disease?

There are three groups of people who should be screened for celiac:

  • Anyone with symptoms of the disease (see the list above)
  • Anyone with a first-degree relative—a parent, sibling or child—who has it
  • And anyone who has a condition that increases the chances of developing celiac disease such as:
    • Type 1 diabetes
    • Autoimmune liver disease
    • Autoimmune thyroid diseases such as Hashimoto’s or Graves’ disease
    • Selective IgA deficiency
    • Down syndrome

How is celiac disease diagnosed?

The diagnosis of celiac disease occurs in two stages.

The first step is a blood test that can be performed by any physician. The test screens for elevated levels of certain antibodies in the bloodstream. If it is positive, meaning abnormal, that means it’s time for step number two: an upper endoscopy performed by a gastroenterologist, who will take tissue samples from the small intestine. If your gastroenterologist notes damage to the small intestine, a diagnosis of celiac disease can be confirmed.

Just one more condition: The person undergoing the two-step screening process must consume gluten-containing foods for six-to-eight weeks prior to the two tests. Otherwise, the tests can produce false negative results, which can be misleading and delay an accurate diagnosis.

What is the treatment for celiac disease?

Although there is no cure for celiac, there is one extremely effective treatment: strict adherence to a lifelong gluten-free diet. Compliance with the diet will resolve all of the patient’s symptoms and heal the small intestine—permanently. A gluten-free diet will also prevent complications of untreated celiac such as malnutrition, infertility, miscarriage and even some cancers. Some people may need to supplement their diets with iron, vitamin D, vitamin B12 and possibly other vitamins and minerals.

See a pediatric gastroenterologist or one specializing in adult care for an annual physical exam, including blood tests to make sure your celiac disease is under control.

What should someone do if they think they may have symptoms of celiac disease?

Reach out to your doctor or come see a gastroenterologist at Weill Cornell Medicine. We’re available to discuss your symptoms and determine whether you should undergo screening for celiac disease. As well, a dietician can help families adjust to a gluten-free diet. With so many tasty gluten-free foods on the market, you may not even miss the gluten-laden versions of your favorite dishes.