<<Disclaimer: Verify this information before applying it to your situation.>> "Clinical Presentations of Celiac Disease in the Pediatric Population" ---------------------------------------------------------------------- by Dr. Alessio Fasano summarized by Jim Lyles Dr. Alessio Fasano, of the University of Maryland, is a pediatric gastroenterologist that specializes in treating Celiac disease. He gave a talk entitled "Clinical Presentations of Celiac Disease in the Pediatric Population" at a conference hosted by the American Celiac Society on June 10-11, 1994. What follows are highlights of Dr. Fasano's talk. Dr. Fasano started out with this familiar statement: Celiac sprue is a life-long condition; there is no such thing as a transient celiac patient. Two factors are involved in celiac sprue: 1) You must be genetically predisposed towards the disease, and 2) Some environmental factor must trigger it. In this country, there is a lack of training and understanding in the medical community about this disease. Medical students and practitioners don't think of celiac sprue when presented with symptoms that ought to be obvious. He asked a class of medical students what kind of tests they would run if a patient was suffering from malabsorption. He got a variety of answers, encompassing the entire GI tract--except that NONE of them thought of running tests for celiac sprue. Dr. Fasano feels that this classroom experience is the rule, and not the exception, in our country. Dr. Fasano showed a picture of the classic, undiagnosed celiac: a child with thin limbs and bulging stomach. The child was lethargic and had all the classic symptoms. He said with modern health care you don't see this kind of case anymore; it doesn't (and shouldn't) get that far. Long before that point is reached, the patient would have complained of diarrhea and other symptoms, and a diagnosis would have been made. These are the celiacs with typical symptoms. However, a lot of people have only a few symptoms, or have unusual (atypical) symptoms. Some have only slight symptoms or none at all; these are referred to as latent celiacs. Latent celiacs still have damage going on in the small intestine and may only develop symptoms of the disease at a later time. In the European community, it is estimated that if you add together the diagnosed celiacs, the asymptomatic celiacs that may or may not be diagnosed, and the undiagnosed latent celiacs, the frequency in the general population would be about one in 300. This refers to a mostly Caucasian population of European descent, which is approximately the same makeup of our country's population. The difference between our estimates of three per 10,000 and their estimates of three per 1000 is not due to genetic differences, instead it indicates that there are many undiagnosed celiacs in our population. Dr. Fasano spoke of a young child with uncontrollable seizures. A CT-scan showed calcification all over the child's brain, especially on the occipital area at the back of the brain. Doctors representing several different medical disciplines were unable to determine what was wrong. The patient was then referred to Dr. Fasano, who promptly ordered some blood tests. The test results indicated a high probability of celiac sprue, and a subsequent biopsy confirmed the diagnosis. The child was placed on a gluten-free diet. After three months, the seizures were completely gone. A follow-up CT-scan two years later revealed that nearly all the calcium deposits were gone. Dr. Fasano was careful to point out that this was only one case, and a very unusual one at that. However, it is a case where the child did not have any symptoms associated with the stomach or intestines. What caused the calcification in the brain may have been a problem in the absorption of folic acid, caused by damage in the small intestine. Since there were no other symptoms, this is the sort of case where very few doctors would have caught on to the fact that an intestinal disorder was at the root of the trouble. Another example involved a colleague that works with children at an institute that handles children of short stature. This institute looks into why the children are not as tall as one would expect them to be. The institute had a blood serum bank containing samples for all the children being studied. Dr. Fasano asked his colleague how many of the children were diagnosed as having celiac sprue. The answer: None. Dr. Fasano received permission to run tests on the serum samples. There were two groups: Children that responded to growth hormones, and children that did not. None of the children were severely undersized; they were simply below the normal limits on the growth curve. All of the children that were responding to the growth hormone had anti-gliadin antibody levels below the cutoff. Of the children in the other group, in some the antibody levels were normal; in the rest the antibody levels were high. At the time of the talk, one of the kids in the latter group had been diagnosed as having celiac sprue, and several others were being checked for it. Dr. Fasano estimates that in children of short stature, about 20% are undiagnosed celiacs. Dr. Fasano showed a video tape of a TV news report on another patient. In this case it was an 18 month old child with bouts of screaming and banging his head on the floor, for up to two hours at a time. He had just begun to speak, but now seemed to have lost that ability. He had stopped growing and was losing weight. Doctors first suspected lead poisoning, attention deficit, or even cystic fibrosis. He was correctly diagnosed because of a chance encounter with Dr. Fasano while at the hospital for some neurological tests. Dr. Fasano suggested celiac sprue as a possible cause of the problems. After four days on the diet, the child calmed down and began playing with his toys like a normal child. Within 30 days, he had progressed back to and well beyond the ability to speak a few words, to the extent that the nurse joked about giving him a little gluten to quiet him down some. The diagnosis of celiac sprue must still be confirmed with a biopsy. However, a combination of three blood tests can be highly predictive of celiac disease: endomysial, reticulin, and gliadin antibodies. When these three tests all come out positive, there is a 99.6% chance that the patient has celiac sprue. When all three tests come out negative, there is a 99.3% chance that the patient does not have celiac sprue. The IgA antibodies drop down quickly once a gluten-free diet is established. Dr. Fasano showed slides for one of his patients. At the time of diagnosis, all three antibody tests were high. After just 15 days on the diet, the IgA reading had dropped sharply; after three months, the IgA antibodies had completely disappeared. This makes the IgA antibody test a good tool for measuring diet compliance; a negative result means a completely gluten- free diet. Therefore, if a patient still has symptoms of celiac disease, this test can be used to determine if the patient is (perhaps unknowingly) eating gluten, or if the patient has some other medical condition that is causing the symptoms. (Author's note: Dr. Fasano's patients are children. Children tend to respond more quickly than adults.) The traditional approach to diagnosing celiac disease uses a three-step process: 1. Perform a biopsy. If the villi are damaged, go to step 2. 2. Place on a gluten-free diet and then perform another biopsy. If the villi are healed, go on to step 3. 3. Put gluten back into the diet and then perform a third biopsy. If the villi are again damaged, then the diagnosis is complete. At this point, the patient goes on a gluten-free diet for life. However, if all of the following are true: 1. Blood tests are positive for celiac-related antibodies. 2. The patient has multiple symptoms. 3. The first biopsy clearly shows damaged villi. 4. The patient clearly responds to a gluten-free diet. 5. Follow-up blood tests are negative. then Dr. Fasano feels only a single biopsy is necessary to make a definite diagnosis.