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"Clinical Presentations of Celiac Disease in the Pediatric Population"
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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.
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