Here is a paper I picked up years ago and had posted in the files of my long defunct yahoo support group.
I didn't want to lose it again and so just copied it here in case it would be useful to others considering testing.
Testing is tricky for many reasons:
1. Not accurate. Many, many false negatives.
2. If you have cut gluten out of your diet, adding it back in for the sake of testing could land you with extra chronic issues:
thyroid disorder
Sjogren's
irreparable intestinal damage
etc.
3. Less than Marsh III and you don't get Celiac diagnosis.
4. Government does not give tax breaks on meat, fruit and veggies.
5. Gluten free junk food, just because you get a tax break, does not warrant ingestion.
It is not a REQUIRED food source.
I have more but am so limited in time these days.
Please do sit down with a tea and read this VERY interesting article.
The Widening Spectrum of Celiac Disease
--------------------------------------
by Joseph Murray, MD, PhD
summarised by Jim Lyles (Sprue-nik Press, Nov. 1996)
Dr Joseph Murray, one of the leading US physicians in the diagnosis
of celiac disease (CD) and dermatitis herpetiformis (DH),
originally came from Ireland and got his
medical degree and a doctorate from the National University of Ireland
in Galway. His residency was at the University of Dublin and he
completed his fellowship in gastroenterology at the University of Iowa
College of Medicine, where he has been since 1988. What follows are
some highlights of a talk by Dr Murray in November, 1996.
Dr Murray started off by endearing himself to the audience: He
spoke of TCCSSG in glowing terms and compared our group favorably with
other active support organizations, both local and national. Because
our newsletter appears on the Internet, he wanted us to know that we
are helping not only our local members but also people thousands of
miles away.
The Standard Definition of CD
Dr Murray gave us the "standard" definition of CD: "CD is a
permanent intolerance to gluten that results in damage to the
intestine and is reversible with avoidance of dietary gluten." There
are some important parts in this definition:
* "permanent": The effects of CD may change from time to time.
You may be sicker at one phase of your life than at another. For
example, you may be sicker at age two, may seem to get better
during the teenage years, may be sick again in your 20's (but
with different symptoms), and then present with bone problems
when you are in your 50's. So there may be different phases, but
it is a PERMANENT intolerance. You do NOT outgrow it; you do not
go through phases where you don't have it anymore. (That used to
be what was thought and TAUGHT in medical schools.)
* "damage to the intestine": There is definitely intestinal
damage; without it you cannot define CD. For some people the
damage is severe, for others it is not so severe. It is the
cases which are not so severe that can be difficult to diagnose.
If the damage is mild then the person interpreting the biopsy
might not even think of CD as being a possible cause of the
damage.
* "reversible": The damage should be reversible. Dr. Murray says
there are about 5% of people with what he believes is CD in whom
at one point in their lives the damage becomes irreversible. In
these cases there is intestinal damage that does not completely
recover. It may partially heal, but not completely. One can
infer that they have the same condition as celiacs that do
recover, based on their history. There may be something
different about that group of patients in their immune systems
that makes them different, but that is an area that is still
being actively researched.
Effects of CD
------------
"Classic" CD is what most medical students are taught about. It is
characterized by diarrhea, steatorrhea (smelly, floating, pasty, fatty
stools), weight loss, abdominal bloating or distention, and flatulence
(farting [yes, he really did say that--ed.]).
Dr. Murray showed a lovely slide depicting steatorrhea, but warned
that you can't identify it just from its appearance; it is the smell
that distinguishes it. There is nothing that smells quite like
steatorrhea. (Dr. Murray admitted that he sometimes has trouble
keeping nurses in his clinic because he does frequently collect stool
samples, which they find rather "challenging".) Steatorrhea (fat in
the stool) was thought to be synonymous with CD. In fact, CD has also
been called idiopathic steatorrhea, which refers specifically to this
particular symptom. So it was thought that if you didn't have this
symptom, you didn't have CD. Nothing could be further from the truth;
Dr. Murray says fewer than a third of his celiac patients have ever
produced this sort of stool.
What are the consequences of the damage to the small intestine?
* Anemia, particularly iron-deficiency anemia or folate-deficiency anemia.
Why these two types (there are other types of anemia)?
Because iron and folic acid are absorbed in the first part of the
small intestine, which is also the part that is most affected by
CD.
* Hypocalcimia (low calcium level). This happens for two reasons:
1) You are deficient in Vitamin D, a fat-soluble vitamin. Fat
mostly passes through the intestine into the stool, and carries
the fat-soluble vitamins with it. 2) If there is severe damage
throughout the small intestine, then calcium is not going to be
absorbed well.
* Other fat-soluble vitamin deficiencies: Vitamin E, which can be
related to nerve damage; Vitamin A, which can cause night
blindness; and Vitamin K, which is for blood clotting (lack of
Vitamin K can lead to nosebleeds, easy bruising, or easy
bleeding).
Dr Murray then showed a few pictures of a young woman who is one of
his more unusual celiac patients: She was extremely obese. She was
an inpatient at the hospital on the psychiatry floor (which is
interesting in itself). She had complained of nighttime abdominal
pain. The most common cause of this symptom is a regular duodenal
ulcer, but medication to treat an ulcer wasn't working so the
gastrointestinal (GI) department was consulted. They performed an
endoscopy, expecting to find an ulcer. They also did a biopsy because
that is Dr. Murray's habit whenever he does an endoscopy. They were
surprised to find active CD. Her symptoms were chronic constipation
(she had diarrhea as a child), malodorous flatus (smelly gas), had
gained 200 lbs. in the preceding four years, and practiced
lactose-avoidance. Being overweight and constipated, she was just
about the exact opposite of what most people would conceive of as the
typical celiac. She had completely normal serum chemistries. Routine
blood tests were normal; there was no clue to the physician suggesting
CD. Yet the biopsy showed completely flattened villi and an antiendomysial
antibody test came back positive. She had a good clinical response to a
gluten-free (GF) diet which included some weight loss.
The degree or type of symptoms that a person with CD presents with
does NOT depend on the severity of the disease where you take the
biopsy. In CD the damage starts in the intestine just after the
stomach and works its way down. The small intestine is about 26 feet
long and has a tremendous ability to compensate. So if the damage is
mostly near the stomach (which is where biopsies are done) then you
may never have diarrhea; the rest of the small intestine can
compensate and absorb all the liquid and food that passes by the first
few damaged feet.
When somebody presents with severe diarrhea and wasting, that means
most of the small intestine is damaged and it is not able to
compensate for the damage closer to the stomach. So it is the amount
of the small intestine that is damaged which determines the symptoms.
If you have all of the small intestine damaged you'll have diarrhea and
weight loss. If only a small portion of the small intestine is
damaged, you may have pain, bloating, and discomfort after eating but
not diarrhea.
Dr Murray discussed some of the different types of presentations
that they see at the University of Iowa:
* Iron-deficiency anemia. At the University of Iowa this is the
most common symptom other than diarrhea.
* Lactose intolerance. This is a very common cause of diarrhea in
certain populations, including people of African and Asian
descent. In these populations lactose intolerance is genetically
predetermined. Something happens in the lining of their
intestine at a certain age that makes them unable to break down
lactose. (Lactose is milk sugar. It has nothing to do with the
fat content of the milk.) In Caucasians this genetically
predetermined lactose intolerance is not very common, occurring
in less than 5% of the population. So when a Caucasian complains
of lactose intolerance Dr. Murray looks for damage to the small
intestine as a possible cause.
* Constipation. About 20% of Dr. Murray's celiac patients present
with constipation instead of diarrhea.
* "Nutritionally-compensated". In other words, they are not skinny
and have never been skinny.
* Osteopenia. This refers to weak, thin bones.
* Chronic fatigue. This is a very common symptom in untreated celiacs.
* Arthralgias. These are joint aches or pains.
* Brittle diabetes. [This is a form of Type I diabetes that is
difficult to control--Dr. Alexander.]
* Short stature. Many people with CD are short. Untreated CD can
cause malabsorption of nutrients. Lack of nutrition in turn can
cause short stature in children, in which they fail to follow a
normal growth curve. Of course there are also many tall celiacs.
But if you are a celiac and you have a child that isn't growing,
even if there are no GI symptoms you should consider CD as one of
the possible causes.
* Neurological disorders. There are some associated neurological
disorders. Thankfully these are fairly rare.
* Dental enamel defects. This is a problem when CD is otherwise
silent in children during the time when their permanent teeth are
developing. What happens is the enamel (the hard coating on your
teeth) does not develop properly. With no enamel, your teeth
wear down and you get cavities very quickly. Dr. Murray has
seen terrible dental loss in 20-year-old celiacs, where they've
lost an entire mouthful of teeth. This is not as much of a
problem in the United States as it is in other countries, where
dental care is not as frequent and aggressive. If dental enamel
defects are detected, you can't really regrow it because it has
never developed. But now there are new dental bonding techniques
where they can put special films over the tooth to protect the
defective area.
As we see, CD can present in its "classic" form with multiple symptoms
such as steatorrhea, weight loss, typical blood test abnormalities,
and a flat biopsy. But perhaps more often it presents in an
"atypical" form with only one symptom such as anemia or bone problems.
In atypical cases the biopsies are not always flat; there may be
varying degrees of damage.
Lactose Intolerance
------------------
Dr Murray revisited the topic of lactose intolerance. About 50% of
celiac patients are lactose intolerant at the time of diagnosis. Here
is why:
Lactose is a double sugar. The small intestine has an enzyme called
lactase which breaks that double sugar down into single sugars which
your body can then absorb. Lactase is produced right at the tips of
the villi. If the villi are damaged then you can't produce that
enzyme to split that double sugar. So the lactose stays intact in the
intestine, passes through it, and then acts as a laxative. You will
get diarrhea, bloating, or gas, depending on the severity of the
symptoms.
After you go on a GF diet and get healing in your intestine, usually
those villi will regenerate and begin producing lactase again,
allowing your body to break down the lactose and absorb it. Dr.
Murray looks for improvement in lactose tolerance as a measure of
healing. If you do not recover the ability to digest lactose, then
either the intestine has not yet healed or you are one of the few celiacs
that are also genetically-predetermined to never be able to
break down lactose, as was discussed earlier. So continued lactose
intolerance is not necessarily a sign of villi damage (though highly
suggestive); but improvement in lactose tolerance is a sign of
healing.
Dr Murray tells patients who have a lot of problems with milk to
wait about six months after starting a GF diet before trying it again.
After about six months they should start testing themselves with a
little skim milk first thing in the morning, to see if they get any
symptoms. If they get symptoms (bloating, gas, or diarrhea) then they
probably are still lactose intolerant. If that continues then they
need to revisit their doctor to find out if there is still evidence of
damage in the intestine.
The important point is that in most (over 90 percent) newly-diagnosed
celiacs with lactose intolerance, it should get better.
Dermatitis Herpetiformis
-----------------------
Next Dr Murray discussed dermatitis herpetiformis (DH). DH is an
extremely itchy skin rash. There is nothing that is as itchy as DH;
even poison ivy may not come close according to those who have had
both. It effects the elbows, knees, buttocks, back of the head, and
scalp. Dr. Murray even had one lady who got it in her outer ear
canal. It comes on in waves. Crops of little bumps appear and soon
turn into blisters that are extremely itchy.
DH is often thought of as a skin disease, but that is not strictly
true. DH is a manifestation of intestinal intolerance to gluten.
Research has been done in which gluten has been injected under the
skin of DH patients, and it does not produce a blister. So DH is NOT
a skin allergy to gluten.
However, if a DH patient takes gluten by the mouth, then it can come
out as DH on the skin. In fact, Dr. Marsh in Manchester (England)
has put gluten in the rectum and in a couple of cases he had DH
patients claim that they got an attack of DH afterwards.
What happens when a DH patient ingests gluten? In the intestine the
body's immune system mounts a response to the gluten. Part of that
response is the production of antibodies, which are like little
chemical messengers the body produces to attack things and help defend
itself. In DH patients those antibodies often get dumped under the
lining of the skin, where they just sit like little land mines for
days, months, or years. Then one day something triggers them
(sunlight, iodine in a cleanser, etc.) and you get this little
bursting forth as the skin's immune system begins attacking these
deposits thus forming the blisters. But the deposits occur originally
due to the intestine being exposed to gluten.
So DH is the skin manifestation of intestinal gluten sensitivity which
is indistinguishable from CD. Most, if not all, DH patients will have
some degree of damage in their small intestines. They may have no GI
symptoms but they have some degree of damage.
Villi Damage
-----------
The villi are the most important part of the absorptive system in the
small intestine. Normal villi are long and slender, giving a healthy
small intestine the appearance of a deep pile carpet. All these villi
give the small intestine an enormous absorptive surface; if laid out
flat it would cover an area the size of a tennis court.
Now consider the "worst case" scenario for CD, where the villi are
completely flattened. This decreases the absorptive surface down from
a tennis court to about the size of a small table. So you have a
dramatic reduction in the amount of area for digesting and absorbing
nutrition from your food. But there are other factors to consider as
well. The villi aren't just flattened, they are also inflamed; just
like your skin is inflamed after being burned. It can produce pain.
(But the pain is not as obvious and localized as it is for inflamed
skin; you just know that there is pain in there somewhere.)
Often the villi are not completely flat. Dr. Murray showed a slide
in which the villi were a little "stubby". In these cases the villi
are still different enough to be classified as not fully formed. But
then he showed a slide in which the villi appeared to be normal size.
Many pathologists would look at such a case and be tempted to rule out
CD as a possibility. However, if you carefully examine the surface of
the villi you'll see that there is a marked increase in lymphocytes,
the small immune cells that reside in the intestine. It is the
lymphocytes which are mostly responsible for the damage in the small
intestine. These are the cells that are responding to gluten.
Dr Murray talked about five degrees of severity of villi damage:
1. Healthy, undamaged villi.
2. Infiltrated villi. The villi are still standing up long and
straight, but the is an increase in the surface lymphocytes.
3. Partially-shortened villi. The villi are somewhat short and
stubby, and the crypts (the basement parts of the villi) are
expanding and becoming inflamed.
4. Flattened villi. This is the typical or classic form of CD, in
which the villi are destroyed.
5. Burned-out villi. This can occur in older celiacs, where the
villi don't necessarily have the ability to recover on a GF diet.
Causes of CD
-----------
There are three factors involved in CD:
* the immune system
* environment
* genetics
The immune system comes into play through the lymphocytes we
previously discussed. There are lymphocytes in the intestines of
celiac patients that respond specifically to something in gluten.
These are called T-cells, and are actually responsible for the damage
in the villi. There are also cytokines, which are chemical messengers
floating around that our bodies produce to fight infection. The
lymphocytes also produce cytokines which cause even more damage.
The environment comes into play in the form of gluten. For example,
in the early '70s there was a trend towards a macrobiotic diet,
meaning a lot of grains. As a result, a lot of people presented with
celiac disease. This was a result of challenging themselves with a
lot of gluten, causing the damage in the intestine to become more
extensive. So a gluten challenge can cause symptoms, though Dr.
Murray does not think it triggers the disease itself. Instead, some
other event may "trigger" the beginning of CD. Possible triggers of
CD include:
* A significant change in nutritional status (such as deciding to
lose weight).
* An infection. Any kind of infection can inflame the lymphocytes
in the intestine so that they start responding, possibly to
gluten.
* The aftermath of pregnancy. During pregnancy the body's immune
system must be prevented from responding to the fetus, which is a
foreign organism that is immunologically separate from the
mother. So the immune system is suppressed to accommodate that
foreign being. Immediately after delivery the immune system
reconstitutes and raises its defenses. What happens is that any
kind of autoimmune disease can get worse after delivery, and one
of these is CD. Many of Dr. Murray's patients' symptoms started
after childbirth; though not necessarily after the first child.
Sometimes symptoms would start after the second, third, or even
fourth child.
DH is different and often gets worse during pregnancy, not
afterwards. It is not clear why, though it is thought to have
something to do with changes in the skin.
* Surgery. It is thought that this also has something to do with
stimulating the immune system.
There is a tissue type called HLA. This is similar in nature to blood
types, where A, B, and O are the three standard blood types. Tissue
typing takes that a whole generation further, taking it down to very
specific subtypes of the genetic material in our white blood cells
(and most other cells in the body). It identifies us as "self",
because we have a specific genetic type in our cells. Our body uses
this to avoid attacking anything that it can identify as "self";
anything else it readily attacks. This is what makes organ
transplants difficult. The body automatically recognizes the
transplanted organ as a foreign body and tries to attack it as an
invader. It is the immune system that mounts this attack, and one of
the things it uses to distinguish foreign bodies from "self" is the
HLA typing in the body's cells.
Why is this relevant for celiacs? There is a very particular tissue
type that is seen in most celiacs called DQ2. (Dr. Murray noted that
the HLA names keep changing every year or two, so that a different
term might be in use now; but DQ2 was what it was previously called.)
Studies in the USA on this subject are sparse, but in studies in
Czechoslovakia, the United Kingdom, and Italy 87% or more of the celiacs
had this tissue type.
The risk of CD increases within the families of known celiacs.
According to Dr. Murray, here are the approximate risk factors for
various relatives of a diagnosed celiac:
-- identical twin: 70% (but not 100%, thus proving CD is not
entirely genetic)
-- HLA-matched sibling: 30-40%
-- non-HLA-matched sibling: 10% (some say even 20%)
-- child: less than 10%
-- parent: 5-7%
-- others (nieces, nephews, grandparents, grandchildren): even less
likely
Why is there a difference in risk factors for an identical twin and an
HLA-matched sibling? Clearly there must be another gene involved
besides the known DQ2 tissue type. Up until three months ago we
didn't have any clue as to what that other gene might be. But at the
symposium in Finland<1> a collaborative study done jointly in Galway,
Ireland and Alabama, USA provided some new information. A series of
families from the Galway group were studied. A new method of looking
for gene site associations was used. They took some of the
chromosomes from blood samples of these patients and looked for
genetic similarities. [Human beings have 23 pairs of chromosomes.
Each chromosome is composed of a multitude of genes.--editor] They
found one spot on chromosome #6 which it seemed to be very highly
associated with CD; in other words, those that have CD seem to have
this "spot" on chromosome #6; those that did not have CD did not tend
to have this "spot". It is not known what the genes in that "spot"
do, because i t is one of those uncharted areas of human genetics. It
is hoped that over the next two years we will learn which specific
gene is involved and how it confers a risk for CD. So there are
probably at least two separate genes that come together to result in a
genetic predisposition towards CD.
Prevalence of CD
---------------
How common is CD? A few years ago it was thought that the prevalence
of CD in Europe varied from 1:300 (one out of 300 people) to 1:2000.
Now the figures vary from 1:90 to 1:600, depending on which study you
look at. These figures are mostly based on studies involving
anonymous blood donors, or screening healthy populations such as
school children. These figures are not based on going to hospitals
and counting the number of diagnosed celiacs.
CD is rare in the Negroid and Asian races, though not unheard of.
This may be because the major starch in China and Africa was not wheat
until fairly recently. So until these populations are exposed to
large amounts of wheat, we may not know what the true prevalence of CD
is in those countries.
The rate of diagnosis of CD seems to be directly related to the level
of suspicion of the doctor, hospital, or health care system. It has
been well-studied in places like Scotland where the rate of diagnosis
in one area is found to be high and then in another area it is much
lower. Then someone with an interest in CD transfers to the second
area and the rate of diagnosis of CD suddenly increases.
There are some population differences that have been noted. For
instance, in Sweden CD is very common and mostly diagnosed in
childhood. But in neighboring Finland CD tends to be diagnosed more
often in adults than in children. In the USA the vast majority are
diagnosed during adulthood. At the University of Iowa the rate is 30
or 40 adults diagnosed with CD for each child. How does one explain
these differences. Is it because the adult doctors aren't looking for
CD in Sweden and the pediatricians aren't looking for it in the USA?
Dr. Murray doesn't think so; he believes there truly is a difference
in the age at which CD is presenting in these countries. At the
Finland symposium there was some discussion on this topic. In Sweden
commercial baby food products have a lot of wheat in them. (In the
past they had lots of milk protein in them, and they changed it 20-30
years ago due to the incidence of milk allergies.)
Incidentally, nearly the exact opposite happened in England & Ireland
in the 1970's. It had been general practice to begin feeding some
type of cereal such as oatmeal to a baby as early as two weeks of age.
Breastfeeding was done only in 10% of the children beyond the age of
six weeks. As a result there were several very young celiacs diagnosed.
However, due to the incidence of CD public health nurses
began advising new mothers to avoid giving gluten to their babies
before the age of one year, and to avoid solids altogether for the
first four months or so. As a result the entire feeding patterns of
infants changed within a year or two and diagnosis of CD in very young
children dropped considerably.
So in Sweden the children are challenged with gluten early in life, so
CD begins presenting early in life; whereas in Ireland gluten is now
avoided early in life, so CD doesn't show up until a later age.
One question that arises: In families with a history of CD, does
exposure to gluten at an early age increase the chances of getting CD?
Nobody knows for sure. Dr. Murray generally advises families with a
history of CD to not feed gluten to a child before the age of one.
Then, once they are a year old, put them on a normal gluten-containing
diet and see what happens. In these cases Dr. Murray recommends that
the child then get the celiac antibody blood tests at age two, or a
full GI evaluation if they develop symptoms or fail to grow.
Is CD really as rare as you might think in the USA? Probably not.
Consider the following:
* 6% of adult Type I diabetics in Iowa have CD.
* A study has shown that 1 in 10,000 people in Utah have DH. That
may not sound too common, but in European countries the incidence
of DH is about the same. And in European countries you usually
get 20 celiac patients for every one DH patient. [That would
make the incidence of CD about 1:500--editor] So if the Utah
study is correct then the rate of CD in Utah should be about the
same as in Europe. Yet the diagnosis rate is much less. Why?
Because either there is a low suspicion of CD among the GI
specialists, or they just aren't seeing all the people who have
CD and don't know it.
Dr. Jarmo Visakorpi is a Finnish researcher who has been studying CD
for about 35 years. He gave the introductory talk at the Finland
symposium and talked about the celiac "iceberg". The analogy is that
the diagnosed cases of CD are like the portion of a floating iceberg
which is above water, and the undiagnosed cases of CD are like the
portion that is below the water. Dr. Visakorpi said that the goal is
to get the entire iceberg above water. This is mostly a reality in
Sweden. In Finland and the rest of Europe some of those peaks are
sticking out of the water. Across the ocean [meaning in North
America] most of the iceberg is underwater.
At the University of Iowa there are 14-17 full-time
gastroenterologists on their staff. Prior to 1990 they diagnosed 2-3
cases of CD a year. Then the numbers started to jump up: 8 cases of
CD diagnosed in 1990; 18 in 1992; 55 or so in 1995, and they are
running at about the same rate again in 1996. Prior to 1990, most of
their newly diagnosed celiac patients presented with either the
"classic" celiac symptoms, DH, or lymphoma. In 1992, only a third of
the newly-diagnosed celiacs fit the representation of classic CD.
Most of them had a single symptom, not multiple symptoms. Half of
them had no diarrhea, and never really had diarrhea at all. Two
thirds of those tested did not have steatorrhea (fatty, smelly
stools).
Testing for CD
------------
Many different tests have been used or proposed for CD screening:
* Routine blood count, serum chemistry, etc. These are general
health-screening tests. They are only useful if they come back
abnormal, and for many celiacs these tests come back normal.
* Absorption tests. There is a xylose test in which the patient
drinks a "foreign" sugar solution and then the level of this
sugar in the blood or urine is monitored. If it is properly
absorbed then the level should rise at a certain known rate. You
need to have a normal intestine in order for it to be absorbed
properly, so it is not a bad test. It is not painful and picks
up many celiacs but not all.
* Antibody blood tests. These are fairly specific to CD. One
disadvantage is that these tests don't pick up other causes of
malabsorption, which may be why they have not been as popular in
the USA as they have been in other countries.
* The small intestine biopsy remains the "gold standard" for
diagnosing CD. At the Finland symposium there was a whole
session devoted to debating how many biopsies are needed to
diagnose CD. There are still experts who believe that three
biopsies are needed, while many others think that one is enough.
However, none of the 392 celiac experts at the symposium thought
CD could be diagnosed without a biopsy. (Dr. Murray thinks that
in the next 4-5 years blood tests may become reliable enough to
diagnose CD in some circumstances without a biopsy.)
* Small bowel x-rays. This is where you swallow a white chalky
liquid. This test is pretty much useless for diagnosing CD.
(30-40 years ago the barium solution used behaved differently so
that it wasn't a bad test for CD, but with modern barium it is
not useful.)
* An empirical trial of the GF diet. Why not just go on the GF diet
and see if you get better? Well, suppose you try a GF diet
for six months and you feel better. But you decide the diet is a
real hassle, so you want to be sure you really have CD. You then
visit Dr. Murray to get a definite diagnosis. What you are
faced with is a gluten challenge, which is not fun for anybody.
Otherwise, there is no way to know if you are a celiac or not.
If you have a biopsy after six months on a GF diet, the
pathologist is probably not going to be able to tell you anything
definitive. So the moral of the story is: Get a biopsy and a
confirmed diagnosis before going on a GF diet. There are very
few exceptions to this rule. On rare occasions where the patient
is not physically well enough to undergo a biopsy, or the health
care company completely refused to pay for it and the patient
can't afford to pay for it themselves, Dr. Murray has diagnosed
CD on the basis of a positive antibody test followed by a good
clinical response to the GF diet. But this is absolutely the
last alternative to pursue.
In the past, three biopsies were required to diagnose CD. The
European Society for Pediatric Gastroenterology and Nutrition (ESPGAN)
developed criteria in 1969-1970 for defining CD. They said you needed
three biopsies: The initial biopsy to show the damaged villi, a
second biopsy after being on a GF diet showing that the villi have
healed, and a third biopsy showing damaged villi after a gluten
challenge.
In 1990 ESPGAN revised their criteria. They now say that in most
cases only one biopsy is needed. If there is a clinical response to a
GF diet (meaning the symptoms go away), so that there is some
definable improvement, then no additional biopsies and no gluten
challenge are necessary to make the diagnosis. Now there occasionally
may still be a second biopsy to show healing, but it is not
specifically to confirm diagnosis. The second biopsy is usually for a
different reason, such as looking for a complication or making sure
that healing has occurred (and sometimes it doesn't occur despite the
best efforts of doctor and patient). The gluten challenge is now
reserved for less than 10% of the cases that Dr. Murray sees; usually
those that have minimal damage and in whom it is not easy to determine
if the GF diet has really helped.
Older patients may respond to the GF diet but not completely heal.
Why not? Well, they may be healing fully further down the small
intestine but not in the area near the stomach, which has been exposed
to the most gluten for the longest time. However, it is only in the
area near the stomach that you can effectively take small intestine
biopsies. So a biopsy might not show the true extent to which healing
has occurred.
What about all the atypical cases; people who present, but don't yet
have symptoms? Where do they fit in the ESPGAN criteria? And do
milder degrees of damage cause problems? The other thing is the
response to a gluten challenge. Some people don't get sick at all;
they don't get any symptoms. They may have damage in their gut but no
symptoms, sometimes even after six months. There was one patient that
went 14 years on a gluten challenge before they developed intestinal
damage. This tells us that if a celiac eats gluten there won't
necessarily be any reaction, so you can't use how you react to judge
whether or not an item is GF. On the other hand, Dr Murray said
that some people will get intestinal changes within two hours of
ingesting gluten; this has been shown by taking a biopsy of a
fast-reacting celiac before and two hours after some gluten was
ingested.
If a celiac is having a gluten challenge Dr Murray looks for
symptoms to begin occurring again, or if not then he follows the
antibody tests until they become positive. After the return of
symptoms, or a positive antibody test, or after about six months, then
Dr. Murray generally performs a biopsy.
There are two basic serological (blood) antibody tests: antigliadin
(antibodies directed against a component of gluten) and connective
tissue (antibodies directed against our own tissues). The antiendomysial
test is an example of the second type of antibody test.
It is very operator-dependent (unfortunately).
A study reported in Gut in 1992 suggests that the celiac antibody
blood tests are 100% sensitive and 99% specific to CD. Some HMOs have
pointed to these studies as proof that a biopsy is unnecessary. But
there are some problems with that study. It was based on a serum bank
saved from previously-diagnosed celiacs. These were celiacs who were
originally found because of screening with these blood tests. So
negative results would automatically not be found in the serum bank.
In September the University of Iowa tested seven reference labs in the
US. They took 20 serum samples from untreated celiacs, split them
seven ways, and sent them to seven different labs across the country
for analysis. All of the untreated celiacs were diagnosed by biopsy
and had not previously had the antibody tests. They also sent 20
serum samples from people who were biopsy-proven to NOT have CD. Dr.
Murray just got the data back in the last week. Each lab tested the
samples blindly, using their own methods. The results:
* The endomysial antibodies at all the labs were 100% specific. In
other words, none of the 20 non-celiacs tested positive.
* The sensitivity of the endomysial antibodies, meaning how often
is the test positive for celiacs, varied a lot: from 55% to 90%.
So with this test alone, you would not find all the celiacs. In
other words, every lab had some false negatives on this test.
* The sensitivity of the IgA and IgG antigliadin tests was quite
variable. If you combined this test with the endomysial antibody
test, the sensitivity is about 95-100%. In other words, if both
of these tests came back negative from the same lab, the chances
of having CD are less than one in twenty. So these tests are not
bad. They aren't quite as good as some European studies have
suggested, but they are not bad. (This is reassuring.)
However, there is one caveat with these test results: the 20 celiac
samples were "classic" celiac cases. These were not patients with
mild damage. So patients with mild damage might not have abnormal
antibody levels. [Yet these are the very patients that are hard to
diagnose, and for which better tests are needed!--editor]
Some of the potentials for these antibody tests include:
* Screening whole populations, or higher-risk populations such as
diabetics.
* Monitoring the response to a GF diet. These tests should become
negative after a celiac has been on a GF diet for awhile.
There are problems with the blood tests. For example, there is no
standardization between the various labs. None of the labs do these
tests the same way, and none of them report the results the same way.
A "high" positive from one lab is not necessarily going to be a "high"
positive from another. That means you may not be able to compare
results from one year to the next if the samples are sent to different
labs. (This often happens as HMO's change contracts.)
Who should be screened? Dr. Murray usually screens people with Type
I diabetes, unexplained iron-deficiency anemia (Dr. Murray does not
accept heavy menstrual flow in women as an explanation), unexplained
bone disease, functional diarrhea, irritable bowel syndrome, history
of "transient" gluten-sensitivity ("Well, I had it as a child and
outgrew it..."--you DON'T outgrow CD), or lactose intolerance (if
Caucasian).
How should close relatives of a known celiac be screened? Obviously,
a biopsy would be ideal as it would determine for sure whether or not
villi damage is present. But a more reasonable first step is to use
the celiac antibody blood tests to screen close relatives. Tissue
typing could also be done to determine whether or not a relative is at
risk for developing CD, but there is not enough information on the
American population. The type of tissue you see in celiacs also
occurs in about 20% of Caucasians.
You also have to follow up intermittently, since a relative might not
develop CD until after the first screening. For example, suppose you
are a celiac and you have a child. Dr. Murray recommends keeping the
child GF the first year, then putting them on a gluten-containing
diet. At the age of two, or at the appearance of any symptoms, they
would then be screened for CD using the antibody tests. Then check
them again at age 9 or 10, before they go into that pubertal growth
spurt.
Treating CD
---------
Dr Murray says that when he tells someone they have CD, and that the
treatment is to avoid wheat, barley, rye, and oats, he expects a
"grief" reaction. This reaction has some fairly standard stages:
Shock, denial (this lasts a long time for some people), anger, and
then (eventually) acceptance. The most dangerous of these stages are
denial and anger. In the denial stage you just deny that this is
really happening to you, or you deny that you are really that
sensitive ("Well, I can get away with a little bit of gluten."). This
reaction is especially common in men. In the anger stage you may be
angry at the delay in getting diagnosed, or angry at why you got this
disease ("God, why did you give this to me?"), anger at the food
manufacturers for incomplete ingredient information, or anger at the
difficulties of following the diet. It is good to channel the anger
to something useful, but eventually you have to get to the acceptance
stage.
Professional dietary advice is invaluable--if you can get it. Dietitians
who are interested, knowledgeable, keep up-to-date, and
learn as much from their celiac patients as the patients learn from
them are invaluable, and there are a few. (Dr. Murray specifically
referred to our own dietitian advisor, Dorothy Vaughan, as one of the
few.)
The University of Iowa surveyed members of the Iowa Dietetic
Association, asking how many celiac patients they have, what kind of
information do they provide, do they routinely give information about
support groups, etc. They found that most of them don't treat celiac
patients, most don't even know what to do because it is so difficult.
Most dietitians get their material from the American Dietetic
Association, and up until several years ago it was woefully
out-of-date. Dietitians can keep up on fat, cholesterol, and diabetic
information; but it is the celiac information that keeps on changing.
As a professional, it is very challenging for a dietitian to keep up,
especially if you are only counseling one or two celiacs a year.
Local and national support groups are important for your immediate
benefit. You don't have to reinvent the wheel all the time. Also,
there is strength in numbers to advocate to bigger corporations and
food providers, and perhaps get them to bend a little bit.
Nutritional supplementation to correct deficiencies is important. For
example, if someone is very anemic they need something to correct it.
Dr Murray advocates "champagne, not pessimism"<2>. Initially the GF
diet may be overwhelming and dominate a celiac's life. But after a
few years to adjust celiacs should expect to have the attitude that
they are on a healthy diet that is interesting and just happens to be
free of gluten.
There are many other aspects of treatment. A bone density test may be
important. You may want to screen family members for CD. Intense
nutritional fluid intervention is sometimes necessary in the really
sick patient. Consider coexisting malignancy or other disease,
especially in the older patients.
Finally, there is the need of follow-up for compliance. Those that do
well on the diet may need less follow-up. The doctor doesn't know at
the time of diagnosis just how compliant the patient will be to the GF
diet (though he may have his suspicions). By setting up a follow-up
appointment six months down the road, you give the patient a goal to
shoot for.
Most patients come back for a checkup doing very well. But Dr.
Murray has had some come back looking terrible. In some cases he has
had to admit them because they were suicidally depressed, somewhere
between the denial and anger stages. They obviously needed help.
(Trying to persuade the insurance company to admit them to the
hospital for dietary management is nearly impossible.)
Dr. Murray advocates prudence, but not paranoia about what you eat.
Some people do get to the point of paranoia, avoiding things that are
reliably GF. You need to have a "safe haven", where you can simply
eat without worrying about whether or not the food is GF. This could
be your home, a celiac friend's house, whatever; someplace where you
can completely relax and not worry about the diet. Some of the GF
cruises that have been organized provided such a haven for the
duration of the trip. [So did the CSA Conference--editor]
In Iowa they have about 150 people in their support group. They have
split up into smaller subgroups that meet every two months or so in
somebody's home. There is no real organization to it, but they know
they can go to that person's home, bring their food, and then relax
and not worry about the food being GF or explaining the diet to
someone. This provides them with a "relief valve". You need to be
able to do something like that from time to time.
Dr. Murray then spoke on monitoring the GF diet. Symptoms should go
away when you are following the GF diet. Deficiency states (such as
iron-deficient anemia) should become corrected. Dr. Murray asks his
patients, "How many times in the last three months have you put
anything in your mouth that you suspected beforehand contained
gluten?" He says he can look at them as they answer this and know
whether they have or not. The last person he asked answered, "well,
maybe twice a week". This was a shock, and Dr. Murray told the
patient that he really was not on a GF diet. Then he asks why. The
answers include: "I was very hungry"; "I couldn't get anything else
to eat"; "I was traveling". The advice he tries to give is to think
of these situations before they happen and plan for them. Antigliadin
antibody tests can be helpful in monitoring compliance.
How many times do you do them? Dr. Murray says nobody really has an
answer; but he likes to see them become normal (negative). A
follow-up biopsy is done occasionally, on a case by case basis.
References
----------
<1> Dr. Murray is referring to the "7th International Symposium on
Coeliac Disease" held September 5-7 in Tampere Finland. See _The
Sprue-nik Press_, Sept. '96, for a summary of this symposium.
<2> This quote came originally from Elaine Harstook, the late founder
of the Gluten Intolerance Group of North America.
Disclaimer:
-----------
No liability is assumed. Individuals should consult their physicians
and dietitians before following any medical or dietary recommendations
published here.
Original material used in The Sprue-nik Press is placed in the
public domain for the benefit of all celiacs.
The Sprue-nik Press is published by the Tri-County Celiac Sprue
Support Group (TCCSSG), a local chapter of CSA/USA located in
southeast Michigan. Members receive this newsletter, a shopping
guide, and a new member packet full of articles and useful
information. Mail-in subscriptions are welcome. For subscription
information, send a note to Mary Guerriero, at dmguer@JUNO.COM
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