Celiac Disease

Celiac disease is a life-long gluten-sensitive autoimmune disease of the small intestine affecting genetically susceptible individuals worldwide. An estimated 1 in 133 Americans, or about 1% of the population, has celiac disease. However, up to 83% of Americans who have celiac disease are undiagnosed or misdiagnosed with other conditions. When people with celiac disease eat gluten — found in wheat, barley, and rye — their immune system mistakenly attacks the lining of their small intestine, causing inflammation and damage to tiny projections called villi that absorb nutrients.

Celiac disease causes a wide range of symptoms and complications that can involve several different organs. Although many common symptoms of the disease are related to the gastrointestinal tract, those with celiac disease may also experience symptoms and complications in other organs, known as extraintestinal manifestations. Only 10% to 20% of individuals with celiac disease exhibit the classic, fully developed form of the condition. The majority of those affected have atypical symptoms, few or none at all, and are therefore often unaware of the disease. This variability in symptoms, combined with their similarity to other conditions, contributes to the average diagnosis delay of several years.

Research suggests that celiac disease only occurs in people who have certain genes and eat food that contains gluten. Celiac disease almost always occurs in people who have one of two groups of normal gene variants, called DQ2 and DQ8. More than 97% of individuals with celiac disease in the United States have DQ2 and/or DQ8 HLA markers compared to approximately 40% of the general population. However, not everyone with these genetic markers will develop the condition.

Research suggests that among children with a genetic predisposition for celiac disease, those who eat more gluten in early childhood may have a greater risk for celiac disease. For example, research suggest that a higher number of infections in early life and certain digestive tract infections may increase the risk. Doctors think celiac disease can be triggered by things that are stressful to your body and immune system, such as a viral infection, surgery, pregnancy, or emotional trauma. Family history significantly increases risk, with close family members having a 1 in 10 chance of getting celiac disease compared to the general population rate of about 1 in 100.

Celiac disease testing should be considered by anyone experiencing persistent digestive symptoms like chronic diarrhea, abdominal pain, or unexplained weight loss, especially when these symptoms don't respond to typical treatments. Testing may also be appropriate for individuals with certain autoimmune conditions, unexplained anemia, or recurring headaches and fatigue that interfere with daily life.

Family members of people diagnosed with celiac disease should also consider testing, as they have a significantly higher risk of developing the condition. First-degree relatives of people with celiac disease – parents, siblings and children have a 1 in 10 risk compared to 1 in 100 in the general population. Additionally, individuals with other autoimmune disorders such as type 1 diabetes or thyroid disease may benefit from screening, even without obvious symptoms.

Positive celiac antibody tests may suggest celiac disease, but they must be interpreted alongside symptoms and other factors. The tTG-IgA test will be positive in about 93% of patients with celiac disease who are on a gluten-containing diet. However, elevated antibodies can occasionally occur in other autoimmune conditions, so additional testing or consultation with a healthcare provider may be needed for definitive diagnosis.

Supplementary tests like iron panels and vitamin levels can provide valuable supporting information. Low iron, vitamin D, or vitamin B12 levels may indicate malabsorption consistent with celiac disease, especially when combined with positive antibody results. Because of this, people with celiac disease are often deficient in essential vitamins and nutrients when diagnosed. It's important to note that you must be on a gluten-containing diet for antibody (blood) testing to be accurate. All celiac disease blood tests require that you be on a gluten-containing diet to be accurate.

While there are currently no pharmaceutical treatments for celiac disease, a 100% gluten-free diet is the only way to manage celiac disease or non-celiac gluten sensitivity. This means avoiding all foods and beverages containing wheat, barley, rye, and their derivatives. Reading labels carefully is essential, as gluten can be found in unexpected products like medications, supplements, and even cosmetics that might be ingested.

Maintaining a strict gluten-free diet can help heal intestinal damage and resolve symptoms, though healing may take months to years depending on the extent of damage. Working with a dietitian experienced in celiac disease can help ensure nutritional needs are met while avoiding gluten. Regular follow-up testing can monitor antibody levels and nutritional status to ensure the diet is effectively managing the condition.