Celiac disease is an autoimmune disorder that is triggered when gluten you eat activates your immune system and results in damage to your small intestine. There is no confirmed single trigger of celiac disease. It is thought that celiac disease requires three things: genetic predisposition, an over-responsive immune system and your individual environment. Environmental triggers include gluten itself, as well as other things such as length of breastfeeding and traumatic or stressful events. How strongly these environmental triggers relate to celiac disease is still being researched.
Celiac disease is an inherited, auto-immune disease affecting the lining of your small intestine. If you have celiac disease, it means that your body cannot process gluten, which is found in any food containing wheat, barley or rye. While symptoms vary from person to person, many patients will complain of gastrointestinal problems. Anemia is also a very common presenting symptom of celiac disease A life-long gluten free diet is the standard of care for treating celiac disease.
1 AnswerIt is estimated that up to 20% of people diagnosed with celiac disease have persistent symptoms while on a gluten-free diet. There are a number of possible causes of this.
- Continuing gluten ingestion. The most common reason for persistent symptoms is continuing to ingest gluten, either knowingly or unknowingly. People are encouraged to meet with a dietitian knowledgeable about celiac disease and gluten-free diets to learn about the “hidden” source of gluten.
- Co-existing conditions. People with celiac disease have an increased incidence of microscopic colitis and inflammatory bowel disease (Crohn’s disease and ulcerative colitis). Microscopic colitis is an inflammation of the colon, or large intestine. Crohn’s disease is a chronic inflammatory disease of the digestive tract. Ulcerative colitis is a type of inflammatory bowel disease that causes sores in the large intestine (colon). A colonoscopy is required to diagnose these.
- Small intestinal bacterial overgrowth (SIBO). Bacterial overgrowth is a condition in which abnormally large numbers of bacteria are present in the small intestine, and the types of bacteria found in the small intestine are more like the bacteria found in the colon. This is usually diagnosed by a hydrogen breath test.
- Pancreatic insufficiency. Pancreatic insufficiency is the inability to properly digest food due to a lack of digestive enzymes made by the pancreas. This can be diagnosed by the measurement of enzymes in the stool.
- Refractory celiac disease, also known as refractory sprue. This affects up to 5% of people with celiac disease. For these people, the damaged villi in the small intestine do not heal from a gluten-free diet.
- Other food intolerances. People with celiac disease may have lactose or fructose intolerance, both of which can be diagnosed by a hydrogen breath test. Some research has shown that people with lactose or fructose intolerance, and irritable bowel syndrome (IBS), inflammatory bowel disease (Crohn’s disease and colitis) benefit from a diet low in FODMAPs (fermentable oligosaccharides, disaccharides, monosaccharides and polyols). A low FODMAP diet is most effective under the guidance of a skilled, experienced dietitian, who will systematically help you eliminate and reintroduce different categories of the FODMAPs.
1 AnswerCeliac disease can be difficult to diagnose in children as well as adults because it affects people differently. There are about 300 known symptoms that may occur in the digestive system or other parts of the body. Digestive symptoms are more common in infants and children. Here are the most common symptoms found in children:
- abdominal bloating and pain
- chronic diarrhea
- pale, foul-smelling or fatty stool
- weight loss
- irritability and behavioral issues
- dental enamel defects of the permanent teeth
- delayed growth and puberty
- short stature
- failure to thrive
- attention-deficit hyperactivity disorder (ADHD)
1 AnswerCeliac disease is an autoimmune disorder in which the gluten you eat activates your immune system and results in damage to the villi in your small intestine. Villi are small, finger-like projections in the small intestines that help you absorb nutrients. Villous atrophy is the blunting or flattening of the villi, which can be caused by the damage done by the immune system in a person with celiac disease after they eat gluten.
Damage to the villi can begin as early as three hours after exposure to gluten. However, the villi are not permanently damaged, as the intestines continuously renew themselves and can heal when you go on a gluten-free diet.
Refractory celiac disease, also known as refractory sprue, affects up to 5% of people with celiac disease. For these people, the damaged villi in the small intestine do not heal from a gluten-free diet, and all other potential causes for this damage have been ruled out. These people are usually treated with steroids and immunosuppressants.
1 AnswerYour chances of developing celiac disease if it's in your family is higher than in the general population. It is estimated that among first-degree relatives (children, parents, siblings), the prevalence rate is between 4% and 16% (1 in 25 and 1 in 6) while among second-degree relatives (aunts, uncles, grandparents), the rate is about 2.6% or 1 in 38.
If you also have first- or second-degree family members with celiac disease, it is imperative that you keep getting screened as time passes.
1 AnswerIf you aren’t on a gluten-free diet yet, you can continue eating a normal diet including gluten before a blood test for celiac disease. If you have been on a gluten-free diet for a few weeks or more, you should start a “gluten challenge” under the advisement and care of a medical professional.
A gluten challenge is the reintroduction of gluten into the diet. For current blood tests for celiac disease, you will typically need to go on a gluten challenge for three or so months. If you experience symptoms immediately after reintroducing gluten, you and your doctor could consider a shorter gluten challenge (a week to two weeks) followed by an endoscopic biopsy. Ask your doctor for more information.
1 AnswerAn endoscopic biopsy usually is necessary to confirm a celiac disease diagnosis -- but a skin biopsy can replace the need for this procedure if you have a condition called dermatitis herpetiformis (DH), which produces a skin rash.
For people with DH, a skin biopsy is sufficient for the diagnosis of both DH and celiac disease. This biopsy involves collecting a small piece of skin near the rash and testing it for the IgA antibody. It is not necessary to perform an endoscopic biopsy to establish the diagnosis of celiac disease in a person with DH; the skin biopsy is definitive.
1 AnswerA Marsh classification is given to people with celiac disease to stage the condition.
- Marsh 0: The mucosa (intestinal lining) is normal, so celiac disease is unlikely.
- Marsh I: The cells on the surface of the intestinal lining (the epithelial cells) are being infiltrated by white blood cells known as lymphocytes. This is also seen in conditions such as tropical sprue, giardiasis, acute infective enteropathy, Helicobacter pylori gastritis and Crohn’s disease, as well as in people who use nonsteroidal anti-inflammatory drugs (NSAIDs) and in various autoimmune disorders. Therefore, it is not specific for celiac disease.
- Marsh II: The changes of Marsh I are present (increased lymphocytes), and the crypts (tube-like depressions in the intestinal lining around the villi, which are small fingerlike projections that line the small intestine and help the body absorb nutrients) are “hyperplastic” (larger than normal).
- Marsh III: The changes of Marsh II are present (increased lymphocytes and hyperplastic crypts), and the villi are shrinking and flattening (atrophy). Most people with celiac disease are Marsh III. There are three subsets of Marsh III: partial villous atrophy, subtotal villous atrophy and total villous atrophy.
- Marsh IV: The villi are totally atrophied (completely flattened) and the crypts are now shrunken as well.
1 AnswerAn endoscopic biopsy for celiac disease takes a little less than 30 minutes and, for adults, sedatives and local anesthetics are used. Children are usually put under general anesthesia.
During the biopsy, the gastroenterologist will insert a small tube with a camera through your digestive tract to your small intestine. Once there, the doctor will examine your duodenum (the part of your small intestine just past your stomach) and take multiple tissue samples. The tissue samples will then be examined by a pathologist under a microscope and assigned a Marsh classification.
People who cannot tolerate an endoscopy may be given the option to undergo video capsule or “pill” endoscopy, in which a capsule the size of a large vitamin pill is swallowed and takes thousands of pictures of the small intestine. However, there is no conclusive evidence that this can substitute for traditional endoscopy and biopsy.
1 AnswerIf the results of the antibody or genetic tests for celiac disease are positive, your doctor may suggest an endoscopic biopsy. An endoscopy is a procedure that allows your doctor to see what is going on inside your gastrointestinal (GI) tract. While you are sedated, a scope is inserted through your mouth and down your esophagus, stomach and small intestine, giving the doctor a clear view and the option of taking a sample of the tissue.
This is usually an outpatient procedure. Samples of the lining of your small intestine will be studied under a microscope to look for damage and inflammation due to celiac disease. It is recommended that the doctor take at least four samples in order to obtain an accurate diagnosis.
For biopsy results to be accurate, you must be eating gluten (at least four slices of bread per day) for one to three months prior to the procedure. Check with your doctor to confirm this.