In this lecture, we’ll
talk about celiac disease.
So here’s a classic case.
An 18-month-old boy presents to the
pediatrician’s office for a visit.
His mother is concerned and reports
that he’s been losing weight,
has diarrhea, and
is a bit irritable.
So, losing weight,
what would you do?
Well, I’d be worried about celiac disease.
Celiac disease is a T cell-mediated
inflammatory disorder of the small intestine.
It’s an allergic response
to gluten in the diet.
It’s caused by ingested gluten such
as the protein found in bread.
Patients do have a genetic
predisposition for this problem.
And it’s estimated that it’s
occurring in approximately
half to 1% of the
So this is a fairly common problem.
Typically, this can present in younger
children or in older children,
and there’s a wide
spectrum of severity.
Some people with this disease will
present completely asymptomatically.
Other people have very severe
limitations in what they can eat.
So, younger children may
present with GI symptoms
but really after they get
gluten in their diet.
This would be an unheard of condition in
the child who is under four months of age
unless for some reason, the
parent was feeding them a cereal
that wasn’t rice cereal,
such as oatmeal.
These patients may present
with chronic diarrhea,
they may present with poor
weight gain or a weight loss,
they may have vomiting, they
often will have malnutrition.
It’s not just that they’re
only eating gluten,
it’s that the irritation of the bowel wall
is preventing absorption of
other important nutrients
that the child may well
have in his or her diet.
have behavioral changes
such as irritability or fussiness, which
is associated with their abdominal pain.
In older children, patients may
have nausea, abdominal pain.
They may experience bloating.
They may obtain
constipation as well.
And they may also have
So as you can see in older children,
it’s a whole bunch of relatively
nonspecific abdominal complaints.
The challenge is that
in older children,
abdominal pain and other nonspecific
pains are quite common.
The majority of third-graders will have
reported abdominal pain in the last week,
and these are normal third-graders.
So, distinguishing a child with celiac
disease and a child with abdominal pain
can be a little bit tricky.
If a parent is coming to you
with nonspecific GI complaints,
should come to mind.
Now, one extra intestinal
manifestation of celiac disease
that is important to recognize
is dermatitis herpetiformis.
This has nothing to do with herpes.
It just was believed when it was first
named to look a little bit like herpes.
And you can see that a tiny
bit here on this slide.
This problem occurs in 15% to 25%
of patient with celiac disease,
but it’s really more common in older people
than in younger children with the disease.
These patients will present
with multiple excoriated
papules, erosions, and crusts
just like our picture here.
It’s typically over elbows and
knees, extensor surfaces,
but also can be
found on the trunk.
And if it is to be biopsied, it will reveal
IgA autoantibodies in the dermal papillae.
Complications of celiac disease included,
as stated before, malnutrition.
And this malnutrition in children
presents with impaired growth,
and this may be how
we pick it up.
Additionally, there is a small cancer risk
in particular lymphoma
of the intestinal wall
that can happen in patients
with unchecked celiac disease,
and this is why we’re not sure
whether we need to treat,
and suspect, we do need to treat
asymptomatic individuals as well.
So, how do we test for it?
If it’s so nonspecific, do we have
a test that’s reasonably good?
And the good news is we do.
So, the first line test is called the
tTG or tissue transglutaminase test.
This is an IgA antibody directed
This is one of the
many IgAs in the body.
So, when we get this test,
we also get a total IgA
because if a patient is IgA deficient,
they may have celiac disease
but a relatively low tTG
just because they’re
deficient of IgA.
And here’s the rub.
IgA deficiency is associated
with celiac disease.
So, we really have to get both levels.
We get a tTG, if it’s elevated, it’s
abnormal, they have celiac disease.
If it’s low and they have low IgA
antibodies, they may have celiac disease.
If the tTG is low and the IgA
is normal, they likely do not.
It should be clear that we
obtain this serologic testing
while the patient
is eating gluten.
If you put them on a gluten-free
diet and then test them,
you’re likely to get a
false negative test.
If they test positive for the tTG-IgA test,
a biopsy is needed to
establish the diagnosis.
Once again, they need to be
on the gluten in their diet
when the biopsy is obtained to
make a definitive diagnosis.
This small bowel mucosa
reveals villous blunting
and increased intraepithelial lymphocytes.
This is a key point for you
to remember for your tests.
First, get the blood test
while on gluten in the diet,
then obtain a bowel mucosa biopsy and look
for the typical finding of blunted villi.
And you can see a picture of these
blunted villi right here on this slide.
Treatment is a total
These patients must be placed
on a lifelong gluten-free diet.
That means avoiding
wheat, rye, and barley.
As this condition is becoming more
prevalent in the United States,
and why that is happening may be
a discussion for another time,
but likely as a combination
of people growing up
in a non-immunogenic way during their first
year of life and genetic predisposition.
But if you make this diagnosis,
you need to be off these elements
for your diet for your life.
What we are finding is
more and more people are
of the gluten-free diet,
and there are more and more
dietary options out there,
but patients need to be weary.
So, here are things patients can eat.
Go ahead and eat fruits and
vegetables and meat and poultry
and fish and seafood and
dairy and beans and legumes.
You can eat flours obtained
from certain types of grains
that do not have
gluten such as rice.
Here are some gluten-free grains,
and the point is not that you have to memorize
that arrowroot is a gluten-free grain.
The point is that there are
many options out there
and people with the disease need to
be aware of these types of things
so that they can adjust
their diet accordingly.
So, things to remember
about celiac disease.
First off, GI symptoms are
primarily how they will present,
and also behavioral symptoms in the younger
children, fussiness, irritability.
Histopathologic signs are key
such as the blunted villi,
which you obtain
on your testing.
Dermatitis herpetiformis is a
pathognomonic rash for this disease,
and if you see it, sure makes
that diagnosis a lot easier.
And treatment is lifelong
a gluten-free diet.
Thanks for your attention.