[Robert D. Fusco, MD]
Mrs M. was excited. Finally, somebody found out what was
wrong with her! A mother of 3 children she had been feeling
more and more tired in the last 18 months. She found herself
taking naps in the afternoon when her youngest daughter was
asleep. It was all she could do to take care of her family.
She had seen her family doctor several times over the past
year and was told that she was anemic. Twice she was given a
prescription for iron pills and told to get plenty of rest.
She did both for months and saw no improvement. She still
felt very tired and run down. It was very frustrating. She
was beginning to think her problems were all in her head.
Finally, she was sent to see a specialist. After some blood
tests and several simple scope tests, the doctor announced
that her problem was celiac sprue and that treatment was
available to help her. She had never even heard of this
condition, but was happy to hear that she was not "crazy"
and that a special diet could cure her. With a special diet
and iron replacement, her anemia was cured and she now feels
Your Gut Feeds You
You may think that you feed your gut. Actually, your gut feeds you. Most
of the food you eat would be as deadly as poison if it got directly into
your bloodstream. Your gut, or small intestine, can best be described as
a very elaborate food "disassembly" plant. Except for dietary fiber -
nut husks, bran, celery strings and such - your gut disassembles
virtually everything you eat into smaller components, ones that your
body can use. Your gut converts the crisp fat in your breakfast bacon
into smaller fatty acids. It turns the protein in your dinner lamb chop
into smaller amino acids. It changes the large carbohydrates in your
mashed potatoes into sugary glucose. Then it passes these much simpler
nutrients to your blood system - food which your trillions of cells can
use for energy, body growth and repair. This process of breaking down
large molecules into their smallest parts so the body can use them is
termed digestion. Without the chemical wizardry of digestion, even
though you gorged yourself, you would soon starve to death.
The Small Intestine
In the middle of your abdomen lies the twenty foot long small intestine.
It is here that the final process of digestion and nutrient absorption
takes place from the two gallons of food, liquid, and digestive
secretions you process each day.The small intestine is divided into
three sections: the first part called the duodenum, the middle portion,
referred to as the jejunum, and the last part called the ileum. The
entire small intestine is lined with intricate sets of muscles which are
never at complete rest. One group produces a swaying motion that churns
together food and digestive juices. Another set of muscles produces a
wavelike action; the waves push the contents along a few inches, then
die out. These muscular contractions cause a ripple-like movement that
carries the contents down the small intestine - somewhat like a conveyor
belt. To maximize absorption, the food molecules must come in contact
with a large number of specialized intestinal cells. To accomplish this,
the walls of your intestines are covered with microscopic hairlike
projections called villi, and even smaller microvilli. Each square inch
of intestine contains about 10 billion microvilli. This increases the
surface area for food absorption dramatically. In fact, if your
intestinal interior were smooth, it would present only about 6 square
feet of absorptive surface. Instead, because of these microvilli, it
presents almost 4000 square feet - about the same surface as two tennis
courts! Microvilli contain special cells which enable absorption of
nutrients into your bloodstream. It takes the small intestine about four
hours to process a meal. Once all the "good stuff" is removed, your gut
passes the indigestible watery gruel that is left to the last five feet
of your digestive tract, the colon.
What is celiac sprue?
Celiac sprue is basically a food allergy to a specific dietary protein
called gluten - which is found in three grains: wheat, barley,
and rye. (The active component of gluten that causes this allergic
reaction is a protein called gliadin.) When an individual with
sprue eats a food containing gluten, such as a slice of bread, a
reaction occurs within the wall of the small intestine. Much like
rejecting a transplanted organ, the immune system mounts an all-out
attack against gluten - and on any villi that have absorbed it. The
villi become inflamed, eventually shriveling up, flattening out or even
disappearing. Without functioning villi, the small intestine can't do
its job of absorbing nutrients from the diet. Thus, even though an
individual is eating normally, nutrients are not properly absorbed and
exit the body with bowel movements, a condition call
malabsorption. This damage can affect absorption of minerals such
as iron. This explains why Mrs. M's anemia did not respond to iron pills.
Accounts of this disorder date over 2000 years, but the association with
gluten was not discovered until World War II. A Dutch pediatrician noted
that children with this disorder improved during the war related food
shortages, only to relapse when cereal supplies were restored. Other
common names for this disorder are nontropical sprue, idiopathic sprue,
celiac disease, gluten-sensitive enteropathy, and gluten-induced
What causes sprue?
What causes one individual to suddenly become
allergic to gluten is unknown. However, there is definitely a genetic
predisposition. Most individuals with this disorder are residents of
Western Europe and places where Europeans emigrated, such as North
America. In the past, it was felt to be a rare disorder affecting about
1 in 3000 individuals. With the advent of new more accurate blood tests, it
has been learned that approximately 1 in 200 Americans are affected,
most of which are undiagnosed. It is somewhat more common in those of
Irish descent. Sprue is rare in those with a pure African, Chinese,
Japanese, and Caribbean background. Sprue can develop at any age.
However, most individuals are either diagnosed as children about the age
of four or much later in the third to fifth decade of life. About 20%
of cases occur in patients over the age of 60. Sprue is not contagious,
but because of the genetic basis, approximately 10% of first degree
relatives (parents, siblings and children) are similarly affected.
What are the symptoms?
In children, diarrhea, weight loss, and growth
failure are common. However, most adults don't present with classic
symptoms of diarrhea and weight loss. Over 50% of adults have no
diarrhea. Abdominal discomfort and bloating are common, but non-specific
complaints. Some patients note diarrhea at night and increased
flatulence (rectal gas). Generalized tiredness is common. These symptoms
are vague and may be misinterpreted as irritable bowel syndrome.
Patients may present with signs of vitamin malabsorption such as
osteoporosis, bone fractures, defects in dental enamel, infertility or
miscarriages, and impaired blood clotting. Recurrent sores in the mouth (apthous stomatitis)
may be the only symptom in some patients.
How is sprue diagnosed?
We have three tools to diagnose sprue. The first diagnostic tool is
to suspect the problem in the first place. As mentioned
above, most adults present with vague and non-specific complaints. The
diagnosis of sprue is often delayed due to the vague and diverse nature of the
symptoms. A survey of 1,600 sprue patients done by New York's
Columbia-Presbyterian Hospital found that on average they took 11 years
to be diagnosed.
One of the most common presentations in adults is unexplained iron
deficiency anemia. Usually, this type of anemia is caused by loss of
blood due to conditions such as heavy menstrual bleeding, pregnancy,
peptic ulcer disease or, on occasion, slow bleeding from a tumor of the
digestive tract. In this country, most cases of iron deficiency anemia
in men are due to chronic blood loss from the digestive tract. In the
case of sprue, however, iron deficiency is not due to the loss of blood,
but rather poor iron absorption in the damaged small intestine. When
iron deficiency anemia is present and there is no sign of blood loss,
sprue should be suspected.
When suspected, highly sensitive and specific blood tests are now
available to screen for celiac sprue. The blood tests can be used to
make the diagnosis and help monitor response to treatment. These blood
tests do not require fasting. They are usually sent out to special
laboratories and the results may take a week or more to return. Three
blood tests are currently available:
- IgA tissue transglutaminase (tTG)
- IgA antigliadin antibody
- IgA antiendomysial antibody
The most commonly used initial screening test is the IgA tissue
tranglutaminase, or tTG. The accuracy of these blood tests is over 95%.
Falsely positive readings are rare. However, about 2 to 10% of patients with
celiac sprue may have an overall deficiency of the general IgA antibody
class. In this case, these IgA based blood tests would miss the
diagnosis. However, if this is suspected, a less commonly used IgG
antigliadin antibody blood test is also available.
If malabsorption is suspected, other more general blood tests are also
often performed. These may include tests of liver and kidney function as
well as blood tests for anemia (hemoglobin), iron, B12, folate, blood
clotting (protime), calcium, and protein levels (albumin) in the blood.
If abnormal, these will often be periodically repeated to assess
response to treatment.
The treatment for this disorder is a major change in diet. A gluten-free
diet is quite inconvenient and more expensive than a regular diet and
may limit patients socially, especially younger individuals. Before
making this lifelong commitment, it is important to be sure that the
diagnosis is correct. Blood antibody tests are very accurate, but not
100% accurate. The diagnosis is usually confirmed by microscopic
examination of a biopsy of the mucosa (inner lining) of the small
intestine. Today, this is most often accomplished by performing an
endoscopic "scope" examination called a gastroscopy. Done under
conscious sedation, this painless test allows the doctor to take several
small samples of the small intestinal mucosa for laboratory analysis.
As mentioned above, the normal intestinal mucosa is not smooth. Rather,
it has a "fuzzy" inner surface due to millions of small villi. (See
Illustration) These serve to increase the overall surface area of the
small intestine to maximize absorption of food and nutrients. In a case
of sprue, the reaction to gluten destroys the villi. Under the
microscope, the mucosa is flat and inflamed - a condition called
villous atrophy. With adherence to a strict gluten free diet, the
villi should grow back and normal intestinal appearance is restored.
Often, a repeat biopsy is performed after three to six months of
treatment as another way to assess compliance with the diet and response
In addition to the tests above, barium x-rays of the small intestine and
CT scans are often performed to evaluate patients with unexplained
abdominal pain, or when response to a gluten-free diet is less than
expected. Often, the doctor will ask an adult with sprue to have a bone
density test which measures calcium in the bones. A low value could mean
bone loss (osteoporosis) and a higher than normal risk of fractures.
How about treatment?
There is no prescription to restore tolerance to
gluten. The only way to stop the damage is not to eat foods containing
gluten - wheat, barley, rye. Oats can be contaminated with wheat grains.
It is advised that they be avoided initially and slowly added to the
diet after a few months of treatment. At that point up to 2 oz of oats
from a reliable source can be consumed daily. Patients are advised to
use only rice, corn, maize, buckwheat, potato, soybean, or tapioca
flours. In reality, complete elimination of gluten is very difficult to
achieve. Wheat flour is often used as a thickener in processed and
convenience foods. Avoiding foods with gluten requires a high level of
patient education and motivation, reading of all labels, and a high
index of suspicion. Patients must also not drink all beers, lagers, ales, and stouts. Wine
liqueurs, most ciders, and spirits including whiskey and brandy are
Since many patients with active sprue are lactose (milk sugar)
intolerant, avoidance of mild products may be helpful initially,
especially if diarrhea and bloating are the presenting complaints. A few
weeks after treatment has begun, lactose-containing products may be
added back to the diet.
Most sprue patients are encouraged to take a daily multivitamin and
mineral supplement as well as extra calcium in their diet.
Can sprue be cured?
No. With continued gluten avoidance, the small
intestine lining can regenerate and normal absorptive function will be
restored. Symptoms can begin to improve within weeks of beginning
treatment. Within several months, the villi in the small intestine begin
to grow back and the blood tests revert to normal. However, there is no
cure. Gluten allergy is a lifelong ailment. If a patient "falls off the
wagon" and eats a slice of wheat bread, the small intestinal lining is
damaged and the whole process begins again. Thus all patients with
celiac sprue are advised lifelong adherence to a strict gluten-free
For reasons unknown, several other disorders are
more common in patients with sprue. A gluten-sensitive skin rash
(Dermatitis herpetiformis) is sometimes seen in adults with celiac
disease. This rash appears as painful, itchy, raised red blotches on the
elbows, knees and buttocks. This skin rash is uncommon in children. The
skin lesions often respond to gluten withdrawl or a medication called
Dapsone. Other conditions such as insulin dependent diabetes and
thyroid disorders may be associated with sprue.
What happens if you don't follow the diet?
Of course, without treatment malabsorption of nutrients will continue.
This often leads to malnutrition, anemia and fatigue. Diarrhea and
weight loss may occur. Calcium malabsorption will eventually lead to
premature bone loss and osteoporosis. The most feared complication of
sprue is a cancer of the small intestine called Non-Hodgkin's lymphoma. The risk
of this disorder is approximately three times above normal, but can be
reduced by strict gluten avoidance.
How about follow up?
As with any chronic illness, it is important to
follow your doctor's advice and keep scheduled appointments. Periodic
bloods tests should be done to assess compliance and response to
treatment. However, once the condition has stabilized, these appointments
need not be frequent. Each case is different and the doctor will decide
when a return visit is needed.
Where to go for more information
Basic information should come from your doctor, but the specifics of
sticking to a gluten-free diet are best learned with the help of a
registered dietician. This may take several sessions and may or may not
be covered by health insurance. Either way, this is time and money well
spent. Printed materials such as the Gluten-Free Gourmet series
of books by Bette Hagman and Gluten-Free Diet -A Comprehensive
Resource Guide by Shelley Case are available from Amazon.com
Many patients also benefit by joining a celiac sprue support group. This
is a great way to learn from the experiences of others with sprue. This
could be through live meetings, but these days, is most
often done over the internet. The internet is a great place to learn
about gluten-free products and recipes. Just be sure to stick with
reputable sites. Some common sources of information include:
Celiac sprue occurs when genetically predisposed individuals have an
inappropriate allergic response to ingested gluten. With repeated
exposure, the small intestinal lining becomes severely damaged and
malabsorption of nutrients can occur. Classic symptoms of weight loss
and diarrhea are rare in adults and many cases go undiagnosed. A common
clinical presentation in adults is unexplained iron deficiency anemia.
When suspected, simple blood tests are available to screen for this
disease. Microscopic examination of a small intestinal biopsy is the
gold standard for diagnosis. There is no cure, but lifelong total
avoidance of gluten (wheat, barley, rye) allows the small intestinal
lining to heal itself and restores normal absorptive function. The diet
is difficult to maintain, but strict compliance results in healing of
the small intestine, and reduces the risk of serious complications such
as cancer of the small intestine. The diet must be continued for life.
At present, there is no cure.