I wanted to write a few words about the testing process for celiac disease. I find that often, patients are not properly informed and make crucial mistakes. I will warn you up front that I have very strong feelings and opinions on this issue. I get many questions about what test should be done, why these tests should be done and the importance of these tests. It is very important that you understand this process if you suspect your child may have celiac disease or gluten intolerance. Failure to understand the testing procedures can alter the results of various tests and may yield an incorrect diagnosis. A correct diagnosis is the first and most important step before making lifestyle changes that will last a lifetime.
First things first! Do NOT start a gluten-free diet until you have finished the testing process! You must still be eating a diet containing gluten in order for the tests to be accurate. Celiac is a lifelong disease and will never go away.
With that said, I fully understand how difficult it may be to continue feeding the very thing to your child that you believe may be making them sick. I have been in this position and I know how hard this can be. The last thing that you want to do is make your child sick. However, I would challenge you to look at this from a different perspective…The thing you want the most is to have your child well…forever. In order to achieve this, you need a proper diagnosis. Believe me, it is easier to continue feeding your child gluten for a relatively short period of time now (even though it may feel like a lifetime) than to commit to a lifelong diet. Keep in mind that you are not only committing yourself to this diet while your child is still in your care, but you are committing them to this diet for the rest of their life. This means they will still be dealing with this diet as an adult when it no longer affects you. Their future spouse and children will be affected and they will live every day of their life differently because of this diet. In my opinion, you owe them a proper diagnosis. Once the diet has been started prematurely, the only way to get a proper diagnosis is to go back to eating gluten and go through the testing process. I will explain this further below.
If you suspect that your child has a problem with gluten, make an appointment today with your child’s doctor. There is no reason to delay. The faster you begin the process, the sooner you will have answers and your child will begin feeling better. Your child’s doctor may begin the testing process or may refer you to a specialist. Here is a list of possible tests that may be done.
Diet Log: It may also be helpful if you start keeping a diet long. Keep a list of everything that your child eats and any reaction that they have afterward. Track all food for at least seven days. Most doctors will request this be done and if you walk in with this information in hand, it will potentially speed up this process by one week.
Blood test: One of the first test that is usually done is a blood test. The blood test is a necessary starting point, but keep in mind that in some patients, blood tests will not reveal anything and may appear normal. Most doctors use this test to determine if you should have a biopsy. They are looking for specific antibodies. If the blood work is positive, most doctors will then order a biopsy. If the blood work is negative, and yet the patient presents with symptoms of celiac, the doctor will usually order a biopsy. Just because you have a negative blood test today does not mean that you may not develop celiac disease later in life. In addition, if you are not eating gluten on a regular basis, the blood tests or antibodies can be negative even though you still have active celiac disease. The difference will be that you have active celiac disease and no diagnosis. It is important to note that there are other conditions which can cause a positive blood test or may reveal certain antibodies and the patient may not actually have celiac disease. This is why blood tests are a good starting point only.
Endoscopy and Biopsy: This is considered the Gold Standard for diagnosis of celiac disease. Most doctors will order a biopsy if blood tests are positive or there is a very high suspicion of celiac disease. Other times, a doctor may order a biopsy if a patient is diagnosed with another condition that is often associated with celiac disease such as diabetes. In highly suspected cases, doctors may forgo the blood tests altogether and skip directly to biopsy. The procedure is almost always done under conscious sedation. This is very different from general anesthesia. An added bonus is that most people do not remember anything about the procedure being done at all. Personally, I would never start a child on a gluten-free diet without doing a biopsy first. Biopsy is the most reliable way to diagnose celiac disease. It helps rule out celiac disease versus gluten sensitivity or gluten intolerance. There is a big difference in these three and you need to know what you are dealing with. Celiac is an autoimmune disease which is very different from an intolerance.
Let me explain how this was done with my daughter. After keeping a diet log and conducting blood tests, a biopsy was ordered. My daughter was not to eat or drink anything for eight hours before the procedure. We arrived at the hospital early the next morning and we changed her into a hospital gown. When it was time for the procedure, they allowed us to walk her into the operating room. We laid her on the table and they put the mask over her mouth and nose. She immediately went to sleep and then they did the IV. She never even knew that she had an IV because they removed it before she woke up. We left the room and they began the endoscopy. The doctor passed a small tube with a camera on the end down her throat, through her stomach and into her small intestine. This allows the doctor to visually see the various organs. He then took 5 – 6 biopsies of the small intestine. What he is checking for is damage to the villi. The villi are the small hairlike structures that line the small intestine. In a person with celiac disease, the body attacks itself causing damage to the structures. The damage may be present in one part of the intestine and not in another which is why several biopsies are necessary. The procedure generally takes 10 to 20 minutes. After they were done, they had us come to the recovery room and a very short time later, we were allowed to go home. It was simple and no big deal. This is a painless procedure because the small intestine does not have any pain fibers. You also will not experience any bleeding because there is virtually none. The amount is so minuscule that you will never see it. Later that afternoon my daughter was playing just like any other day. We were able to get the diagnosis the very next day.
Saliva Testing: Several studies have been done on the effectiveness of saliva testing and have found that they are not a reliable method. It is believed that they are simply not sensitive enough and blood tests are still needed as a follow-up. This may only add unnecessary expenses and may yield no answers.
Fecal Test: For many, this test seems a desirable alternative to blood tests and biopsy. However, Most doctors agree that it may be unreliable. A sample is taken from a persons stool and then tested to see if it contains antibodies. Unfortunately, antibodies have also been recovered from people without celiac disease. The test is unable to differentiate between celiac disease, gluten sensitivity or intolerance. In cases where antibodies are present, this necessitates further testing described above. For many, it adds unnecessary expenses to the testing process without giving a definitive diagnosis.
Skin Biopsy: Dermatitis herpetiformis is a rash that is found on the skin. In some, celiac disease causes a painful skin condition and these patients may or may not have any other symptoms. For these individuals, a skin biopsy is done to diagnose celiac disease. If the skin biopsy is positive for celiac disease, an intestinal biopsy is not necessary. The disease is the same, it is just manifesting itself in a different manner. These individuals must also follow a 100% gluten-free diet for life.
Following a strict 100% gluten-free diet is absolutely necessary for a person diagnosed with celiac disease. In children especially, a definitive diagnosis is a must. A diagnosis of celiac disease means that the gene was passed down by one of the parents and that everyone who is related by blood including siblings, cousins, aunts and uncles and future children may be affected. In fact, if anyone in your immediate family is diagnosed with celiac disease, all immediate family members need to have blood tests regardless whether they have symptoms or not. Remember, celiac disease is sometimes silent and you may have it without having any noticeable symptoms. This is more especially more common later in life.
Knowledge is power and giving your child a clear diagnosis is a lifelong gift. If your child is properly tested and diagnosed and a strict diet is not followed, they may eventually feel better even though they have celiac disease. Many diagnosed with celiac will have periods of time where they are not outwardly bothered by eating gluten. In other words, they may eat a piece of pizza and they may not feel bad even though they have celiac disease. This is often referred to as the “honeymoon period.” The problem with this is that although the person does not feel bad, the gluten is still causing intestinal damage. Unfortunately, this puts them at much higher risk for things like cancer, infertility, osteoporosis, anemia and increases their risks of developing other associated autoimmune diseases.
If you suspect celiac disease, call your doctor. You are the only advocate your child has. Do not stop until you get an answer. Some doctors are just learning about celiac disease. If you do not feel that your doctor has a modern understanding of celiac disease, find another doctor. Your child is counting on you.
For more in depth information on testing for celiac disease, you might want to check out the following book. Celiac Disease A Hidden Epidemic by Peter H.R. Green, M.D. Dr. Green has an entire section dedicated to the testing process.