What is celiac disease? What causes the condition?

Celiac disease is a genetic autoimmune disorder in which most people suffer a variety of symptoms, both gastrointestinal and extraintestinal, after eating foods that contain gluten. In people with celiac disease, gluten, found in wheat, rye and barley, triggers the immune system to produce chemicals that can damage the intestinal tract. Some individuals experience "silent celiac disease,” which means they show no outward symptoms but still have the intestinal damage.

In what population is celiac most common?

Celiac disease is now recognized as a major public health problem worldwide with a prevalence rate of 1 in every 100 people. Early reports identified celiac disease in populations with predominantly Caucasian populations, but the autoimmune disorder related to the ingestion of gluten has now been shown to be a global condition. Celiac disease is diagnosed more frequently in women and white populations; some evidence suggests that race, ethnicity and location can play a role in obtaining an accurate diagnosis. The exact prevalence of celiac disease in different parts of the world is unknown, and population-based studies are needed in many countries.

How is celiac disease diagnosed?

Celiac disease has been called a “clinical chameleon” because of the diverse symptoms the condition can generate. These include gastrointestinal symptoms of bloating, diarrhea, constipation, abdominal pain, nausea and vomiting, and extraintestinal symptoms can include anemia, joint pain, fatigue and/or brain “fog,” depression, osteoporosis and neurological symptoms. If symptoms are present, celiac disease is diagnosed through a series of steps including initial blood tests, genetic testing and an intestinal biopsy, the “gold standard” to confirm damage in the small intestine.

How is the condition treated?

The only current treatment for celiac disease is strict and lifelong adherence to a gluten-free diet. Once an individual is diagnosed, it is recommended that they work with a registered dietitian to implement and follow a strict gluten-free diet to avoid additional intestinal damage. Maintaining the correct balance of vitamins, minerals, fiber and caloric intake in the daily diet can be a challenge for people on the gluten-free diet, especially if there are other restrictions. Along with working with a registered dietitian, joining a celiac support group is a great way to learn about the gluten-free diet and get much-needed support. Eating gluten free with fresh and whole foods might be a new way of eating, but it can bring many benefits along with effectively treating celiac disease in most people.

What research is underway to prevent or better detect celiac disease?

Research into the molecular and mechanistic processes of how celiac disease develops during the last two decades has identified therapeutic targets for drugs to complement or replace the gluten-free diet. Alessio Fasano, MD’s discovery in 2000 of zonulin, which regulates intestinal permeability, led to the development of the drug called larazotide acetate as a “zonulin blocker.” Fast tracked by the FDA for clinical trials, it has demonstrated a robust safety and efficacy profile and is now in Phase 3 trials. Other drug strategies include approaches to detoxify gluten using food additives or enzymes or restoring immune tolerance to gluten.

Rev. 6/2022. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.