What is celiac disease?

Celiac disease is an autoimmune condition triggered by gluten ingestion. This leads to characteristic symptoms in affected individuals, such as diarrhea, abdominal bloating, and in some cases, nutrient deficiencies from malabsorption. When food with gluten is eaten, the gluten is digested into other proteins known as “gliadins”. These gliadins are absorbed by the small intestine, and in susceptible individuals, cause an autoimmune response.

At what age is celiac disease usually diagnosed?

Celiac disease can develop later in life, but a recent study found that most cases develop in childhood, with the majority occurring before age 10. Conservative estimates put the prevalence of celiac disease in the U.S. at about 1 in 133 or around 0.75% of the population. 

What are the risk factors for celiac disease?

• Genetics
• Gluten consumption

How do my genetics impact my risk for celiac disease?

The heritability of celiac disease is around 75% based on analysis of 513 twins with a diagnosis of celiac disease. It is also more common among 1st-degree relatives of celiac patients, by up to 4-5 times. 

The best-understood genetic factors are the HLA variants, which encode cell-surface proteins that are important for immune system function. Specifically, high-risk variants of HLA-DQA1 and HLA-DQB1 can account for up to 40% of the heritability of celiac disease.  In addition, people with type 1 diabetes have up to a 7% higher risk for celiac disease. 

How does my gluten consumption impact my risk of celiac disease?

Celiac disease is gluten-induced, so eliminating gluten from the diet eliminates the symptoms.

Is there anything I can do to reduce my child’s risk of developing celiac disease?

As explained in the celiac disease whitepaper, genetics plays an important role in determining the risk of celiac disease. Using Orchid’s embryo screening scoring, you can prioritize the embryo with the lowest genetic risk profile for celiac disease and potentially reduce their risk of celiac disease. 

Is there anything I can do to reduce my risk of developing celiac disease?

Since the incidence of celiac disease has risen over time, even after taking into account increases in diagnoses, some changes in the environment likely play a role. Some environmental factors that have been theorized to play a role are: changes in when gluten is introduced into the diet, microbiome changes as a result of increased Cesarean section use, and antibiotic use. However, no randomized controlled trials manipulating these factors have proven a reduction in celiac disease incidence. For example, a recent trial that introduced gluten earlier into the diet in high-risk infants found no change in celiac disease incidence. 

How is celiac disease treated?

The mainstay of managing celiac disease is consuming a gluten-free diet. In addition, since celiac disease can cause micronutrient deficiencies, patients with celiac disease may want to seek advice from a dietician with experience in managing celiac disease. Some patients experience severe complications of untreated celiac disease, such as micronutrient deficiencies and certain cancers, so patients with celiac disease may want to seek care with a gastroenterologist.

What are some symptoms of celiac disease?

Symptoms are generally split into gastrointestinal symptoms and extraintestinal symptoms. For the former, diarrhea, abdominal discomfort and/or distension, vomiting, constipation, and failure to thrive (in childhood) or unexplained weight loss (in adults). Extraintestinal symptoms include aphthous ulcers, malnutrition (which can cause anemia and other issues), muscle weakness, and more.

How is celiac disease diagnosed? 

The gold-standard diagnostic test for celiac disease is a biopsy of the small intestine which shows characteristic changes, such as villous atrophy, crypt hyperplasia, and increased presence of immune cells. The decision to proceed with the biopsy is usually made when someone is thought to have a relatively high probability of having celiac disease, because they have certain symptoms and are positive for transglutaminase IgA antibody (tTG-IgA). 

Takeaways

1. Celiac disease is a chronic disease with acute and long-term complications, if diet adherence is not achieved.
2. Genetics, especially HLA variants, play an important role in celiac disease risk.

Where can I learn more?

1. A collection of resources for patients with celiac disease