<<Disclaimer: Verify this information before applying it to your situation.>> ............................................................ : Clinical Presentation of Celiac Disease in Children : : --------------------------------------------------- : : by Ivor D. Hill, MB, ChB, MD summarized by Jim Lyles : :..........................................................: Dr. Hill is Professor of Pediatrics and clinical director of Pediatric Gastroenterology & Nutrition at the University of Maryland School of Medicine. Historically, CD was seen more frequently in children than in adults, and was characterized by malabsorption, diarrhea, and failure to thrive starting at an early age. This has changed quite a bit over the last two decades, for reasons that are not altogether clear. The symptoms being presented vary quite a bit, and are often not gastrointestinal in nature. Also, the age at which symptoms begin appears to have increased significantly. The severity of the disease seems to vary quite a bit as well. Today we have to accept that CD can affect many different organ systems in the body. Unfortunately, this message is not filtering down to the students in our medical schools. Students are being taught the classical symptoms of CD, and are not taught to look for all the unusual ways in which an undiagnosed celiac patient might present symptoms. Presentation of CD in children falls into three categories, each of which will be discussed further. "Classical" Early Presentation ------------------------------ This was previously the most common form, but is becoming less common today except in Sweden and southern Italy where 80% of the diagnoses are made under the age of 2. In this category, children usually begin showing symptoms between six and eighteen months of age, coinciding roughly with the introduction of gluten into the diet. Up to 25% of children showed symptoms within a month of introducing gluten to the diet. In most cases symptoms come on gradually. Stools become progressively loose and more frequent, and are often pale and bulky with an offensive odor. Diarrhea is accompanied by a failure to gain weight satisfactorily or even a loss of weight. The child becomes progressively malnourished and develops abdominal distention with subcutaneous fat loss and muscle wasting. Although weight is affected first, eventually height is affected as well. There is progressive misery and irritability. There may be regression of development such as losing the ability to walk. Occasionally CD comes on very suddenly with severe diarrhea and vomiting, leading to dehydration and what is called a "celiac crisis". Conversely, there a some cases where the child has no diarrhea and in some cases constipation becomes a problem. Late Gastrointestinal Presentation ---------------------------------- This is becoming more of the norm. Almost half the newly diagnosed cases are six years of age or older. The symptoms are still gastrointestinal in nature, but are much milder. Diarrhea is still the most frequent symptom, though it may come and go. Nausea and vomiting occur in up to 30% of the cases, usually during bouts of diarrhea. These symptoms tend to be less severe than in very young patients. A smaller number of patients experience frequent abdominal pain. Most patients in this group describe vague abdominal discomfort and feelings of bloating if specifically asked. Loss of appetite is a common complaint, but it some cases there is an excessive need for food, perhaps to compensate for the malabsorption of nutrients that occurs as a result of the intestinal mucosal damage found in CD. Most patients eventually experience unsatisfactory weight gain or even weight loss. Conversely, those that experience an increase in appetite may actually have an excessive weight gain for a short period of time. Gastrointestinal symptoms are often accompanied by feelings of lethargy and poor health. Moodiness and irritability are also characteristic of the disease. Non-Gastrointestinal Presentation --------------------------------- CD can affect virtually any organ system: * The musculoskeletal system: Short stature, tooth enamel defects, osteoporosis (loss of bone mass) and osteomalacia (softening of the bones), arthritis, and arthralgia are all areas that can be affected by active CD. In some cases, short stature is the ONLY symptom initially. Linear growth is affected. In these cases, the child may not have an appearance of wasting; his weight may be appropriate for his height In various studies it has been estimated that 5-24% of children attending a clinic for short stature for which no reason has been found had CD as the cause of short stature. In some cases these children have a depressed level of growth hormones. However, when CD is the cause of the short stature, the child does not respond to growth hormone treatments. The response to a GF diet is pretty good prior to puberty; in most cases they can "catch up" in their growth. If the diagnosis is missed until after puberty and after they have completed their growth spurt, they will forever be short. That is one reason why early diagnosis is important. Tooth enamel defects are another interesting manifestation of CD. It affects the permanent teeth, and the effect is distributed symmetrically in the mouth. It is such a characteristic finding that some dentists, if they are aware of it, can even refer patients depending on what they find while looking at teeth. The onset of this condition occurs before the age of seven, when the permanent teeth are being formed. Early detection of CD is important in these cases, as this effect is permanent and can eventually lead to the destruction of the permanent teeth. * Skin and mucous membranes: This system can be affected in many ways. Dermatitis herpetiformis (DH) is one of the well-known effects of CD in some patients. There may be an association between atopic (widespread or nonspecific) dermatitis and CD as well. Aphthous dermatitis (stomatitis) and hives can also occur. DH is interesting because a patient with DH often has no gastrointestinal symptoms, yet when a duodenal biopsy is performed villi damage is usually found. DH is normally found in celiacs between the ages of 15-40, but it is occasionally found in even very young children. * The hematological (blood and circulatory) system: CD can affect this system in many ways: anemia, a decrease in the white cell count, a decrease in platelets, and bleeding problems due to a decrease in clotting factors. Anemia is the most common hematological symptom, and can be caused by an iron, B-12, or folate deficiency. B- 12 deficiency is very unusual in children, the other two forms of anemia occur more frequently. Vitamin K deficiency can also occur, because vitamin K is a fat soluble and celiacs often have trouble absorbing fats. Vitamin K is important in producing clotting factors. * The central nervous system: These symptoms can mostly be categorized as behavioral changes or epilepsy. Kids with CD-related behavioral changes can be extremely irritable. They seem cranky non-stop all day long and even when they are sleeping. They have temper tantrums and show marked separation anxiety. They can also show marked emotional withdrawal. Some have even shown symptoms consistent with autism, though this is a controversial subject which Dr. Hill did not go into. He said that there might be a link between CD and autism, but was careful to point out that not every case of autism would be improved by a GF diet. Why does CD affect behavior in some children? It has been shown that a specific peptide chain in the gliadin molecule is what actually causes the toxic reaction in celiacs. It turns out that this peptide sequence is very similar to that found in certain endorphins. Endorphins are produced by the body and affect brain chemistry. Therefore, it could be that gliadin affects the brain chemistry, which would certainly lead to behavioral changes. There is a strong correlation between epilepsy and CD, especially when there has been calcification of the brain. There have been reports of a GF diet reversing the calcification and reducing or eliminating the seizures associated with epilepsy, though this may not occur in the majority of the cases. * The reproductive system: This system is not generally affected until puberty. Sometimes there is a delay in the beginning of puberty in both males and females. This can be associated with delayed growth and short stature, but it also occurs sometimes as an isolated feature. In later life there can be a problem with fertility and recurrent spontaneous abortions. When there is a delay in puberty, the body usually responds dramatically to a GF diet. In summary, Dr. Hill believes that pediatricians need to start getting the message out that CD is a highly variable disease. We cannot afford to sit back and be blase' about this condition; if we don't actively look for it in children we will often miss the diagnosis. At this point Dr. Hill began taking questions from the floor: Q: A celiac asks: I have three children with no symptoms of CD. Should I have them get the blood test? When should they be retested? A: The blood test is a good start in screening for CD. If it comes back positive, then you can go on and look for a firm diagnosis. If it comes back negative, they probably don't need to be retested unless they develop one or more symptoms. (Watch for unusual symptoms!) Q: A woman states: My mother said I was sick from the time I was born, though I wasn't diagnosed until a few years later. Is it possible to have CD symptoms immediately after birth? A: This is not very probable. The generally accepted belief is that you must first have gluten introduced to the diet before you can develop CD. There is a slight possibility, and this is highly controversial, that some of the toxic peptides can come through in breast milk. Q: With the potential effect of gliadin on the brain chemistry you described, should celiacs avoid drugs such as morphine which also affect brain chemistry? A: No, not at all. Morphine can be very effective when used properly. The discussion of gliadin and brain chemistry was merely meant to help explain why gliadin might cause behavioral changes. Q: My celiac child has responded well to a GF diet, but doesn't seem to have as much of an appetite as non-celiac children. Should I be concerned? A: I would not be concerned about a child's appetite if he or she continues to grow satisfactorily. Your appetite can go up when you are malabsorbing to try to compensate for the failure to absorb sufficient nutrients. When you correct the underlying problem that is causing the malabsorption, often the appetite does fall off as there is no longer a need to "overeat" to compensate for poor absorption. Q: My son was diagnosed at age 7, and has "caught up" to the growth curve. Will his adult height be affected by his time as an undiagnosed celiac? A: Everyone has a certain growth potential. If celiac children follow a strict GF diet, they should return to their own individual growth curves and eventually reach their full growth potential. Q: My child was at the 90th percentile at six months of age. His growth then fell off dramatically and eventually his short stature led to a diagnosis of CD. He is now back at the 50th percentile and holding steady there. Should I be concerned that he has not gone back up to the 90th percentile? A: I wouldn't get too hung up about the 90th percentile at six months of life. That growth phase is not necessarily related to what the growth potential is going to be. If he was at that level at four or five years of age then you might make a case for that being his normal level.