Celiac Disease: The ABCs of Gluten Intolerance

Eating gluten-free has become a common trend in nutrition. It is the only treatment currently available to individuals with Celiac disease, but is often also followed by people who are believed to be sensitive to gluten. Since May is Celiac Disease Awareness Month, I wanted to address common questions that I am often asked about Celiac disease and gluten sensitivity.

What is Celiac disease?

Celiac disease is a gluten intolerance that can lead to inflammation in the small intestines. It is believed to occur in about 1% of the population (1 out of 133 to be exact). Since it requires the presence of gluten, it can present as early as 6-8 months of life, once gluten has been introduced into the diet. It can present in three ways:

  • Gastrointestinal symptoms: This is what is considered ‘typical’ celiac. Children may present with vomiting, abdominal pain or bloating, poor weight gain, constipation and/or diarrhea.
  • Non-gastrointestinal symptoms: Children may present with symptoms including short stature (lower height than expected), rashes and iron-deficiency that is not responsive to supplementation.
  • Asymptomatic: This group of individuals are usually discovered in routine screening in high-risk groups such as those with Trisomy 21/Down’s syndrome and Type I Diabetes and first degree relatives of those diagnosed with celiac disease.

Isn’t celiac disease genetic? No one I know in my family has celiac disease so we should be okay, right?

Yes, Celiac disease is genetic. We know that the presence of at least one of the celiac genes is needed to be at risk for development for celiac. The genes, HLA-DQ2 and HLA-DQ8, are present in about 35% of the population. However, it is estimated that for every person diagnosed with celiac disease, there are 25 people who have not been diagnosed. Celiac disease can present at any time and individuals can often be asymptomatic. Therefore, it is very common for a child to be diagnosed first and then through screening, other members of the family including parents and siblings are then diagnosed.

What can I do to prevent Celiac disease?

Unfortunately, there is nothing that can be done to prevent Celiac disease. We do not know what causes those at risk (with the specific celiac genes) to develop celiac disease. Breast feeding is thought to be protective against celiac disease. There also is believed to be a window of opportunity in infants, between 4-7 months of life, to introduce gluten to decrease the likelihood that celiac disease will develop. That is, if it is introduced too early (less than 4 months) or too late (after 7 months), celiac disease is more likely to develop,

Should I get my child tested for celiac disease?

There are certain antibodies that can be tested in your child’s blood to screen for celiac disease. The specific antibodies that are checked will depend on your child’s age and symptoms. Universal screening is not recommended, but if your child is having symptoms or is in a high-risk group as listed above, screening may be necessary. Genetic markers should not be routinely checked because the vast majority of those who carry the gene will not develop Celiac disease. Discussion with your child’s pediatrician and possibly a referral to a pediatric gastroenterologist may be helpful to decide whether these tests would be important to check in your child.

How does celiac disease differ from gluten sensitivity?

Celiac disease is an immune response to gluten that can be screened via blood tests and diagnosed with a biopsy of the small intestines that will demonstrate a specific type of inflammation. These tests will be normal in individuals with gluten-sensitivity. There are not any reliable tests for sensitivity. Currently, the diagnosis is predominantly a clinical one and based on resolution of symptoms following the removal of gluten from the diet. Research demonstrates that gluten sensitivity may occur in as much as 8% of the population.

Untreated celiac disease is also associated with vitamin deficiencies and abnormal bone mineralization leading to osteoporosis as adults. In addition, there is an increased, though still rare incidence of lymphoma as well as increased infertility noted in women with celiac disease.

Are there any other treatment options for Celiac disease besides the gluten free diet?

Currently, the gluten-free diet is the ONLY treatment option for patients with celiac disease.

There are currently studies being done to test the helpfulness of certain supplements to degrade gluten in the intestines to prevent the immune response to gluten. A vaccine is also under development. These options may be helpful as adjunctive treatments to the gluten-free diet to improve quality of life when gluten exposure is more likely, such as at a party or while on vacation.

Anthony F. Porto, MD, MPH is a board certified pediatric gastroenterologist working at Yale University School of Medicine. He is the associate clinical chief in the section of gastroenterology/hepatology as well as director of pediatric gastroenterology at Greenwich Hospital. He received his medical and master of public health degrees from Tufts University School of Medicine. He completed his residency training at the Children’s Hospital at Montefiore Medical Center, Bronx, NY, and his fellowship in pediatric gastroenterology and hepatology at Columbia University. He was named both physician and teacher of the year at Columbia in 2005 and 2006, respectively. He writes public education materials for the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition website and is on the medical advisory board of the Crohn’s Colitis Foundation of America.
He has a strong interest in nutrition especially in celiac disease and gluten-related disorders, food allergies, obesity and ensuring proper growth in children with feeding problems.

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