Celiac disease, also known as celiac sprue, non-tropical sprue and gluten-sensitive
enteropathy, is an inflammatory disease of the small bowel triggered by ingestion of
gluten-containing food in individuals with certain genetic predisposition.
Gluten is a protein found in bread, pasta, pizza, cookies and other foods containing
wheat, barley or rye. When someone with celiac disease eats gluten-containing foods, an
immune reaction takes place resulting in inflammation of the lining (mucosa) of the small
intestine and subsequent damage. As a direct result of the mucosal damage, nutrients
present in the ingested food cannot be absorbed, and the person becomes malnourished
regardless of the quantity of the food ingested.
Celiac disease has a worldwide distribution, although it is rare among Asians and
blacks. It has been estimated that approximately 0.05% to 0.2% of European population have
celiac disease.
Recent studies have shown that celiac disease affects 1 in 133 Americans. Among the
people that have a first-degree relative diagnosed with gluten-sensitive enteropathy,
about 1 in 22 may be affected by the disease.
The onset of illness is most common in young children after wheat has been introduced
into the diet, and in young adults (third and fourth decades). However, celiac disease can
affect people of any age. Sometimes the symptoms are triggered after surgery, pregnancy,
viral infections or severe emotional stress.
Celiac disease runs in families with certain genetic background mapped to a region on
chromosome 6. However, the genetic defect responsible for the disease has not yet been
identified.
Symptoms may occur in digestive system or in other organs, and may not be consistently
present in all patients. Also, the symptoms at onset are different from person to person,
depending on the age. Some people may present to their physician complaining of fatigue
due to anemia related to the inability of the small bowel to absorb iron. Other people
more typically present with diarrhea and abdominal pain, while children may become
irritable.
Symptoms of celiac disease may include:
- weight loss
- diarrhea
- recurring abdominal pain and bloating
- pale, foul-smelling stool
- iron-deficiency anemia (low red cell count due to malabsorption of iron)
- bone and joint pain, numbness and muscle cramps
- painful skin rash (dermatitis herpetiformis)
- seizures
- failure to thrive in children
Some people with celiac disease have patchy, discontinuous damage of the mucosal
lining, and, therefore, may have minimal or no symptoms. However, they too are at risk to
develop the complications of celiac disease.
If the symptoms suggest celiac disease, the physician will recommend blood tests and
confirmatory small bowel biopsy. Screening blood tests are recommended for asymptomatic
people that have a first-degree relative diagnosed with celiac disease.
Blood test. People with celiac disease have higher than normal levels
of certain chemicals in their blood, called antibodies. Antibodies are produced by
patient's defense (immune) system when harmful substances, such as gluten, are introduced
into the body. The antibodies that are diagnostic of celiac disease when present in higher
concentrations are called anti-endomysial and anti-tissue transglutaminase antibodies.
Endoscopy. If the symptoms and blood tests are suggestive of celiac
disease, the physician will recommend upper endoscopy to remove tiny fragments of
intestinal mucosa (biopsies) for confirmatory microscopic examination. During the
procedure, a thin tube equipped with a small videocamera is introduced through mouth into
esophagus and pushed into the stomach and small intestine. The images of the interior
surface of the small intestine are captured and transmitted to a video monitor where can
be examined by physician. In the patients with celiac disease the mucosal lining of the
small intestine is atrophic and has a characteristic mosaic pattern. At the same time,
using small forceps, tiny fragments of mucosa are removed and sent to pathology laboratory
for microscopic examination by specialized physicians called pathologists.
Celiac disease has a chronic course that can be controlled by exclusion of the
gluten-containing foods from the diet. Most patients are symptom-free when they avoid
eating foods containing wheat, barley or oat, but some patients do not respond to the new
diet; therefore, they have a progressive disease characterized by various complications,
including:
1. Cancer. Certain types of cancer can occur in non-responders
including lymphoma and adenocarcinoma. Therefore, patients with celiac disease need to be
placed in a surveillance program (routine endoscopic examination) that helps to detect
these malignancies in early stages.
2. Loss of calcium and bone density (osteoporosis). Due to continued loss
of dietary calcium and vitamin D, patients with celiac disease refractory to gluten-free
diet develop osteoporosis characterized by weak, brittle bones, prone to fractures.
3. Neurologic complications. Seizures may occur due to inadequate
absorption of folic acid. Nerve damage (peripheral neuropathy) may also occur.
4. Miscarriage and congenital malformations are risks for untreated
pregnant women with celiac disease.
5. Short stature. When celiac disease occurs in childhood, it will affect
the normal growth due to malabsorption of calcium and vitamin D in untreated children.
Celiac disease can be adequately managed in most patients through a gluten-free diet,
that is a diet without foods containing gluten. For most patients following this diet, the
symptoms will improve, the mucosal lining will reverse to normal, and no further damage
will ensue. The clinical and microscopic improvement takes place within a few days, and
complete mucosal healing occurs in about 3 to 6 months, but it can take up to 2 years in
older adults.
This type of diet must be followed lifelong, since even small quantities of gluten can
damage the intestinal mucosa resulting in symptom relapse. Common food items that cannot
be used are bread, bagels, pastries, pasta and pizza. Plain meat, fish, rice fruit and
vegetables do not contain wheat protein. Food items labeled gluten-free are not
necessarily free of wheat protein, since trace amounts are used as fillers in common
products such as tea bags and instant coffee.
A few patients with celiac disease do not respond to gluten-free diet either due to
severe intestinal damage or due to a complication (such as lymphoma). These patients need
to be monitored closely for complications. Drug treatment is available for certain
unresponsive patients, and in severe cases, intravenous nutrient supplements may be
necessary to avoid severe malnutrition.
Additional information on several types of gluten-free diet may be obtained from:
Mayo
Clinic
National Institute of
Diabetes and Digestive and Kidney Diseases
