Featured article in the Spring 2015 Issue of Nutrition Close-Up; written by Kristin D. Maggi, MS, PA-C
Celiac disease is a hereditary autoimmune disorder that has become increasingly more common. It is estimated to occur in one out of every 133 people, which means approximately 2.3 million Americans are afflicted. While a large majority of those with celiac disease are undiagnosed, a growing awareness of the condition within the medical community has led to a greater number of screenings in recent years.
Consumption of gluten—a protein found in wheat, barley, and rye—elicits an immune reaction in the small intestine of those with celiac disease. The small intestine is lined with tiny, finger-like projections called villi. These villi aid in the breakdown and absorption of the food we ingest. In the case of celiac disease, eating gluten leads to inflammation and, ultimately, destruction of the villi over time. The villi become flattened, which significantly inhibits their ability to absorb essential nutrients. Hence, prolonged, uncontrolled celiac disease can lead to significant malnutrition. Other complications associated with celiac disease include osteoporosis, iron deficiency anemia, infertility, and a form of cancer known as lymphoma.
There is a broad spectrum of symptoms associated with celiac disease. Classic symptoms include bloating, diarrhea, weight loss, abdominal pain, and delayed growth (in children). Many people, however, exhibit a variety of other symptoms. These include, but are not limited to an itchy rash (Dermatitis Herpetiformis), headaches, joint pain, tingling/numbness of the legs, nausea, fatigue, and mood changes. Conversely, some people are completely asymptomatic. The wide array of symptomatology associated with celiac disease can understandably make diagnosis a bit of a challenge. Compounding matters further is the fact that celiac disease can manifest at any time in the life cycle, from infancy to adulthood. What exactly triggers the onset of the disease process is unknown, but it appears insults to the small intestine may be involved. Environmental factors, intestinal infections, stress, and pregnancy are some of the disease’s potential triggers.
Celiac disease is a genetically pre-disposed condition. Most people afflicted by it have the HLA-DQ8/DQ2 genes. The risk of celiac disease in the general population is about 1%. Having a first-degree family member (e.g. mother, father, sibling, child) with celiac disease increases one’s risk of developing it to about 10-15%. Furthermore, if one identical twin has celiac disease, then the other twin will have a 75% chance of manifesting it. Celiac disease is prevalent in those with autoimmune disorders such as Type I diabetes, rheumatoid arthritis, and thyroid disease. It is also common in Down syndrome and Turner syndrome.
Presently, the American Gastroenterological Association does not recommend routine screening for celiac disease in the general population. Instead, screening is reserved for patients who are symptomatic and/or in high-risk populations. Blood tests are the current method of screening for celiac disease. Although there are several serum markers available, the standard test is tissue transglutaminase immunoglobulin A (tTG IgA). This test is highly sensitive to and specific for celiac disease. If celiac screening results are positive, then biopsies of the small intestine are used to confirm the diagnosis. Small bowel biopsies are obtained via an upper endoscopy, a low-risk procedure performed under anesthesia by a gastroenterologist. Of note, it is imperative that one continues to consume gluten while the testing is underway, otherwise the results may be falsely negative.
Currently, the only treatment for celiac disease is a strict, lifelong gluten-free diet. It is very important to adhere to this diet because even a small amount of gluten—something as seemingly harmless as a few crumbs of bread—can damage the small intestine. Completely eliminating gluten from the diet can be challenging. Gluten’s presence in many common foods (e.g. soy sauce and salad dressings) causes some celiac sufferers to view the diet as overwhelming and cumbersome. Registered dietitians are great assets as they can provide in-depth dietary counseling. With strict dietary adherence, symptoms of celiac disease will generally abate within days to weeks. Although it may take months or even years, the small intestine should eventually heal completely.
Kristin Dermody Maggi, MS, PA-C is a physician assistant currently working at a private gastroenterology practice in the Greater Philadelphia area. She attended George Washington University’s Physician Assistant program and graduated in 2010 with a Master of Health Sciences. Prior to becoming a physician assistant, she was a registered dietitian and graduated from Cornell University in 2004 with a Bachelor of Science in Nutritional Science.
- Celiac disease is a hereditary autoimmune disorder, which involves inflammation and damage to the small intestine precipitated by the consumption of gluten, a protein found in wheat, rye and barley.
- The only treatment currently available for celiac disease is a lifelong, strict gluten-free diet.
- Bast, A., Leffler, D.; Murray, J.; Pietzak, M. (2010, December 1). Defining, Diagnosing and Managing Celiac Disease in Primary Care. Retrieved from www.celiacCMECentral.com
- DiMarino, A. (2014, November 13). Celiac Disease and Its Effect on the Body. Jefferson/National Foundation for Celiac Awareness. Retrieved from www. Celiaccentral.org/webinars
- Patient Center: Understanding Celiac Disease. American Gastroenterological Association, n.d. Web. Feb. 7, 2015. <http://www.gastro.org/patient-center/digestive-conditions/celiac-disease>.