Testing Options | Is Testing Right For You? | Dr. Marshall Speaks
Celiac disease is a genetic auto-immune disease that effects a staggering one in 132 Americans (approximately 3 million people). Gluten-sensitive individuals make up another 15% of the population. Both conditions are characterized by the body's inability to digest the protein that surrounds the grains of wheat, barley and rye: grains that are found in common brands of breads, pasta, and flours. When the body recognizes the protein, it's defense is to send out antibodies in the blood that eventually end up attacking the body.
Celiac disease and gluten sensitivity can have over 300 symptoms including:
The prevalence of celiac disease has increased four-fold in the past 50 years, with a few theories hypothesized as to why we are now being presented with such a high diagnosis rate. Common theories:
Unfortunately, 97% of celiac cases go undiagnosed. If someone suspects that they may be living with an undiagnosed case, it is imperative to either get tested or follow an elimation diet, because an undetected allergy could eventually cause growth defects, osteoporosis, infertility, neurological complications, higher risk of gastrointestinal cancers, and malnutrition.
Most people start with a blood test because it's easy, non-invasive and can be done during a routine doctors visit. Some complications exist with this method. Most notably, if your doctor does not pull the entire gluten panel, you could read a false negative. False negatives could also be drawn from someone who has suspected a gluten sensitivity and recently omitted it from their diet. If there is no recent gluten in the digestive tract, the antibodies will not be present to detect in a blood draw. Additionally, if the gluten sensitivity is recent, the detectable antibodies may only exist in the gastointestinal tract, and have not yet made it to the bloodstream yet.
Gastric endoscopies are another testing option and have proven to be a more accurate detection method. This procedure is more invasive than a blood draw and requires a trained physician to do a biopsy of the upper small intestine using a tube that is passed down the esophogus into the duodenum. Pathologists reading the scope are looking for gluten specific ulcerations or damage in the small intestine lining. Patients are required to be under either sedation or anesthesia.
Stool testing and genetic testing via saliva are available from a company called www.enterolab.com where test kits are administered from your home then sent to their lab for results. EnteroLab testing is promoted as being one of the most accurate and simplified testing methods available.
Is Testing Right for You?Many individuals are now resorting to an elimination diet, instead of going through the standard route of testing. This involves completely eliminating all sources of gluten from your diet for a specified amount of time to determine whenther or not your symptoms persist. Pros and cons exist here too.
Pros. From a convenience and monetary standpoint, this method is a wise choice. Elimination will also give you an intuitive idea as to how certain foods feel after you ingest them.
Cons. Unless you are certain that none of the foods you are eating contain any gluten, this will not be effective. Also, everyone's timing is different as to when symptoms will persist. For some, it may be in as little as a day. For others it could take up to a year for the healing to begin and the symptoms diminish. Additionally, other secondary food allergies, such as a dairy could accompany your predicted gluten allergy. Unless, you are diligent enough to omit all common food allergens such as corn, soy, dairy, and gluten, then methodically add them back into your diet one-by-one, you may be creating a false negative.
In my practice, I run into more people who are concerned that they are reading a 'false negative' versus people reading a 'false positive'. Most people will satisfy themselves with a single positive diagnosis, and find relief in moving onto the next phase of healing. The most common person I work with however, will not give up at one negative test result and will continue testing until the diagnosis is confirmed. In this case, I will recommend the elimation diet.
Testing can get expensive and it is not certain that insurance companies will cover the accrued cost and laboratory fees. I always recommend arming yourself with your health insurance's policies before going to your physician to request tests. More information on all of these topics can be found on Dr. Marshall's page.
See how Five Weeks To Gluten Free Freedom will transform your life!
Celiac Disease, or sometimes referred to as Gluten Sensitive Enteropathy, is a condition where your body reacts to a food protein called gluten. Gluten is found in wheat, barley, and rye. When gluten is recognized by the body’s immune system an inflammatory response is initiated against the patient’s small intestine, specifically the villi. The villi are responsible for absorption of dietary nutrients, and thus injury to the villi, will cause the inhibition of such nutrients into the body. The removal of gluten from the diet will correct the injury to the villi and will eventually allow normal absorption of dietary products. Thus, a correct and timely diagnosis of patients with suspected Celiac Disease is of vital importance.
Identifying patients with Celiac Disease can be problematic for the physician as symptoms of Celiac Disease can be similar to those of other gastrointestinal diseases. These include Irritable Bowel Syndrome (IBS), Inflammatory Bowel Disease (IBD), gastrointestinal infections, specific food intolerances including lactose, and small bowel bacterial overgrowth. As a result of these symptomatic similarities, the diagnosis of Celiac Disease can initially be missed or delayed by the physician. In recent years physicians have become more aware of the true spectrum of Celiac Disease, more aware of its subtle presentation, and recognize other mimicking entities. Thus, the diagnosis of Celiac Disease is becoming more common within the population.
Common symptoms of Celiac Disease include; fatigue, abdominal discomfort, bloating, flatulence, weight loss, nausea, diarrhea, irritability and depression. Patients frequently present without symptoms, and their physicians detect anemia (decreased red blood cell count), nutritional deficiencies (calcium and iron), a skin rash and/or bone density loss (osteopenia or osteoporosis) during routine health care exams.
Over the past several years more and more attention has been directed towards gluten as a possible source for gastrointestinal illness. Celiac Disease, once an obscure diagnosis more predominant in Europeans, is now reported to affect 1 in 132 people in America. More striking is that 15% of the population, or one in seven individuals, is thought to have non-Celiac gluten intolerance. Clinicians and individuals are becoming more aware of the wide spectrum of symptoms and clinical features associated with a gluten intolerance and thus the increase in worldwide recognition. It is important to identify those individuals with a gluten intolerance, either Celiac Disease, or non Celiac gluten intolerance, as the appropriate treatment can eliminate a patient’s symptoms, improve their lifestyle, and allow them to live the life they choose to live.
The diagnosis of Celiac Disease is made through a combination of a patient’s clinical history, a physical examination, laboratory testing, and gastrointestinal endoscopy. A visit to your physician is vital for a correct and timely diagnosis. Your physician will take a complete medical history inquiring about all current and past symptoms that you are experiencing. Additionally, it is important to relate to your physician if there are any family members affected with Celiac Disease. A physical examination will be conducted to look for clinical findings suggestive of gastrointestinal illness, and specifically those associated with Celiac Disease. Laboratory testing is a critical component to the diagnosis of Celiac Disease. Celiac Disease is considered an autoimmune disease, meaning that your body is producing antibodies against your own tissues, and not just against infectious agents. There are several commonly used blood tests physicians use to ascertain a diagnosis of Celiac Disease:
1. Anti gliadin antibodies (AGA) - this antibody is produced by your body against dietary gluten. This test is no longer commonly used for a diagnosis of Celiac Disease as it offers a low level of accuracy. A person with an elevated level of this antibody does not necessarily have Celiac Disease. This test can be used to monitor a patient’s response to a gluten free diet.
2. Anti endomysial antibodies (EMA) - this class of antibody is considered an auto antibody as it is produced against your body’s own tissues.
3. Anti-tissue transglutaminase antibodies (tTGA) - this class is also considered an auto antibody. The EMA and tTGA are highly accurate in diagnosing patients suspected of having Celiac Disease. An individual with an abnormal elevation of both the EMA and tTGA has a greater than 95% chance of having Celiac Disease.
4. HLA-DQ2 and HLA-DQ8 gene testing - this is a genetic test to see if you have a genetic predisposition for Celiac Disease. An individual with a negative test will not develop the condition. This is a worthwhile test to screen family members of a patient with a confirmed diagnosis of Celiac Disease.
At this point of your evaluation, if your physician is still considering the possibility of Celiac Disease he or she will discuss an endoscopic biopsy with you. This procedure, upper endoscopy, is a simple and painless procedure where your physician will visualize the upper portion of your intestinal tract, and obtain a small piece of tissue from your small intestine (duodenum). During the procedure you will likely be sleeping for a short period of time, and a soft instrument will be guided over your tongue, down the esophagus into the stomach and then into the first portion of your small intestine called the duodenum. Through this instrument, the physician will use forceps to pinch a tiny piece of tissue from the duodenum for further investigation under the microscope. A finding of flattened, or blunted villi, confirms the diagnosis of Celiac Disease in a suspected individual. The endoscopy will also allow the physician to exclude other possibilities for the patient’s symptoms.
After your endoscopy your physician will have you return to his/her office within one week to review the results of your test and biopsy results. If your biopsy was not consistent with Celiac Disease you and your physician will discuss further testing to find the cause of your symptoms.
If your biopsy is consistent with a diagnosis of Celiac Disease your physician will now incorporate a team approach to your care. Your physician will discuss, and review with you, the meaning of Celiac Disease, the process that is occurring within your body secondary to gluten exposure, and how to correct this in order to move forward feeling healthy. The most important aspect of treatment for Celiac Disease is removal of gluten from your diet. You should consult with a nutritionist in order to learn and understand what is involved with a gluten free diet. A nutritional assessment will be obtained, a thorough review of a gluten free diet will be undertaken, food variety, learning how to grocery shop, nutritional balance and possible vitamin supplementation should be discussed. This will clearly be a lifestyle change for you; it will take some time to fully understand and to incorporate this into your daily routine. Yes, the process of adapting to a gluten free diet will take time and effort on your behalf, but there is no reason you will not be successful and accomplish this goal. A lifestyle modification program will allow you to incorporate a gluten free diet into your life, and will not allow this new dietary change to overwhelm you or to adversely affect your daily routines. After a short adjustment and learning experience of what you can and cannot eat, the benefits of a lifestyle modification program will be clear. You can continue with the life that you are accustomed too. If you are a business traveler, a school teacher, an athlete, a mom preparing school lunch for your child, or an individual who wishes to have all of their meals out of their house, a lifestyle modification program can and will be geared to suit your needs. The adherence of a gluten free diet will not take over your life. The gluten free food industry is rapidly expanding with new products coming to market, and restaurants are more and more aware of the needs of those with Celiac disease and have adapted their menus accordingly. You will succeed.
There is a growing population of patients who experience similar symptoms to those patients who have been diagnosed with Celiac Disease who for whatever reason do not meet the diagnostic criteria for Celiac Disease. Their laboratory testing may reveal autoantibody titers that are either negative, or elevated, but not to the level necessary to support a diagnosis of Celiac Disease. There are likely other grain proteins not yet identified that may cause a similar inflammatory response toward the small intestine similar to that described in Celiac patients. Additionally, similar to the HLA-DQ2 and HLA-DQ8 genetic markers noted in Celiac Disease continued medical research may identify new genetic markers that are linked to other grain proteins not yet recognized. These patients clearly have a gluten sensitivity and may benefit from the removal of gluten from their diets.
Andrew T. Marshall, M.D.
1800 Rockaway Avenue, Suite 201
Hewlett, NY 11557
516 593 4200
1984-1988 Emory College, Atlanta, GA
1988-1992 Mount Sinai School of Medicine NY, NY
1992-1995 Residency, Internal Medicine; Mount Sinai Hospital, NY, NY
1995-1997 Fellowship, Gastroenterology; Beth Israel Hospital/Harvard Medical School, Boston, MA
Board certified in Internal Medicine and Gastroenterology
Currently in private practice in Hewlett, NY (Long Island)