Jay W. Marks, MD, is a board-certified internist and gastroenterologist. He graduated from Yale University School of Medicine and trained in internal medicine and gastroenterology at UCLA/Cedars-Sinai Medical Center in Los Angeles.
Celiac disease is suspected when individuals have signs or symptoms of
malabsorption or malnutrition. Other diseases, however, can produce
malabsorption and malnutrition, for example, pancreatic insufficiency (when the pancreas is not able to produce
digestive enzymes), Crohn's disease of the small intestine, and
small intestinal
overgrowth of bacteria. It is
important, therefore, to confirm suspected celiac disease with appropriate
testing.
Small intestinal biopsy
Small intestinal biopsy is
considered the most accurate test for celiac disease. Small intestinal biopsies
can be obtained by performing an esophagogastroduodenoscopy (EGD). During an
EGD, the doctor inserts a long,
flexible viewing endoscope through the mouth and into
the duodenum. A long, flexible biopsy instrument is then passed through a
small channel in the endoscope to obtain samples of the intestinal lining of the
duodenum. Multiple samples usually are obtained to increase the accuracy of
the diagnosis. A
pathologist then can examine the biopsies (under a microscope) for
the loss of villi
and other characteristics of celiac disease such as increased numbers of
lymphocytes.
Small intestinal biopsy does however, have some
limitations. For example, acute viral gastroenteritis and allergy to cow's milk or soy protein can cause
abnormal small intestinal biopsies that are indistinguishable from celiac disease.
However, acute viral gastroenteritis is not easily confused with celiac disease
because of the difference in the acuteness of symptoms. (Acute viral
gastroenteritis has a sudden onset of symptoms and last only a few days.) It is
however, easier to confuse cow's milk and soy protein allergies with celiac
disease, but these allergic conditions are rare and primarily occur in young
children. Despite these limitations, small intestinal biopsies are recommended
even in individuals who have abnormal antibody tests for celiac disease. (See
discussion that follows.)
Specific antibody tests for celiac disease
Antibodies are proteins that are produced by the immune system to fight
viruses, bacteria, and other organisms that infect the body. Sometimes, however,
the body produces antibodies against non-infectious substances in the
environment (for example, hay fever) and even against its own tissues
(autoimmunity).
Blood tests that are specific for celiac disease include antigliadin antibodies, endomysial antibodies, and anti-tissue transglutaminase antibodies. In patients with celiac disease, anti-gliadin antibody is produced against gliadin in the diet, and anti-tissue transglutaminase antibodies are antibodies produced against the body's own tissues.
Endomysial antibodies and anti-tissue transglutaminase antibodies are highly
reliable in diagnosing celiac disease. An individual with an abnormal elevation
of these antibodies has a greater than 95%
chance of having celiac disease. Anti-gliadin antibodies are less reliable and
have a high false positive rate. Thus a person with an abnormally elevated
anti-gliadin antibody level does not necessarily have celiac disease.
Nevertheless, anti-gliadin antibody levels are useful in monitoring the response
to treatment because anti-gliadin antibody levels usually begin to fall within
several months of successful treatment of celiac disease with a gluten free diet.
The newest test for celiac disease is a test for antibodies to parts of the gliadin molecule called deamidated gliadin peptides. This test appears to be as good for diagnosing celiac disease as antibodies to tissue transglutaminase. In fact, it has been speculated that if blood tests for antibodies to tissue transglutaminase and deamidated gliadin peptides are negative (that is, no antibodies are present) then celiac disease is virtually excluded, and perhaps there is no need for biopsies of the small intestine. Further studies will be needed, however, to prove this.
Who should undergo antibody blood tests for celiac disease?
Some experts recommend that antibody blood tests
should be used to screen healthy
persons with no signs or symptoms for celiac disease. In Italy, where celiac disease
is common, all children are screened for celiac disease. Experts in the United
States do not recommend screening healthy persons for celiac disease. Antibody
blood tests are only recommended for individuals with a higher likelihood than
normal of having celiac disease. These individuals are:
Individuals with chronic
diarrhea (diarrhea that does not resolve in three weeks), increased amount of
fat in the stool (steatorrhea), and weight loss
Individuals with excess gas, bloating,
and abdominal distension
First and second degree relatives of individuals who
have celiac disease
Children with growth retardation
Individuals with unexplained iron deficiency anemia
Individuals with skin rashes suggestive of dermatitis
herpetiformis
Individuals with recurrent painful mouth sores (aphthous
stomatitis)
Individuals with unexplained elevations of liver enzymes (AST or ALT) in the
blood.
Why is it important to accurately diagnose celiac disease?
Diagnosis of celiac disease should be firmly established before commencing
treatment with a gluten free diet for several reasons.
The gluten free diet is a life-long and tedious
commitment that should not be taken lightly. It is more costly than a normal
diet and has significant social implications, especially when dining out.
Individuals with irritable bowel syndrome (IBS) may experience improvement in bloating, abdominal pain,
and diarrhea with a gluten free diet. These individuals may be misdiagnosed as
having celiac disease. Without confirmation of celiac disease by small intestinal
biopsy, they may be unnecessarily committed to life-long gluten
restriction.
A gluten free diet can lower blood antibody levels and allows the
microscopic appearance of the small intestine to lose the typical appearance of
celiac disease, complicating subsequent efforts at making a firm diagnosis of
celiac disease.
How are malabsorption and malnutrition evaluated in celiac disease?
Celiac disease causes malabsorption of nutrients and leads to malnutrition.
Tests are available that help in the evaluation of malabsorption and
malnutrition; however, because other diseases can cause both malabsorption and
malnutrition, these tests cannot be used to diagnose celiac disease.
Stool examination for malabsorption
Fat in a sample of stool placed on a glass slide can be stained with a dye
(Sudan stain) to make the fat visible under the microscope as globules. Stool
from patients with celiac disease often contains many stained globules of fat, and
Sudan staining is a quick and easy screening test for increased amounts of fat
in the stool (steatorrhea). To conclusively diagnose steatorrhea, however, stool
is collected over a 72-hour period, and the fat in the stool is chemically
measured and quantified. Steatorrheic stools have abnormally high quantities of
fat. Since malabsorption and steatorrhea can occur with other intestinal
diseases (such as small intestinal bacteria overgrowth, small intestinal resection, extensive Crohn's disease
of the small intestine, and chronic pancreatitis), stools with large amounts of fat only raises the suspicion of
celiac disease but cannot be used to diagnose celiac disease.
Blood tests for malnutrition and vitamin deficiencies
Malabsorption reduces the absorption of protein and causes a reduction in
blood protein levels. This can be seen commonly as a reduced blood level of
albumin, the most concentrated protein in blood. Other proteins in blood, for
example, transferrin also may be reduced.
Intestinal malabsorption can lead to deficiencies and low blood levels of
iron, calcium, vitamin B12, folate, Vitamin D and vitamin K. These deficiencies,
in turn, can lead to other blood test abnormalities such as:
Iron deficiency anemia: Iron is an important component of hemoglobin in
red blood cells. When iron is
deficient, the production of red blood cells is impaired, and anemia develops.
Iron deficiency anemia can occur either through loss of blood (with its
iron-containing red blood cells) or lack of intestinal iron absorption.
Heavy
menstrual bleeding and cancer of the colon that bleeds into the intestine are
two common causes of iron deficiency anemia due to blood loss. Celiac disease
causes iron deficiency anemia by reducing intestinal iron absorption. In fact,
iron deficiency anemia can be an important clue to the presence of celiac
disease.
Abnormally prolonged prothrombin time (ProTime): ProTime is a blood test
that measures how quickly blood clots. Clotting of blood requires special
proteins or clotting factors, many of which are made by the liver. Formation of
clotting factors by the liver requires vitamin K. When vitamin K absorption from
the intestine is reduced, as in celiac disease, the production of clotting factors
by the liver is inadequate, and blood clotting is delayed. Delayed clotting is
reflected in an abnormal ProTime, and individuals with an abnormal ProTime have a
higher risk of abnormal or excessive bleeding.
Iron deficiency anemia, abnormal ProTime, steatorrhea, and low iron and
vitamin levels can occur in diseases other than celiac disease. Therefore, the
presence of these abnormalities only raises the suspicion of celiac disease but
does not specifically diagnose celiac disease.
Celiac Disease - Symptoms at Onset of DiseaseQuestion: The symptoms of celiac disease can vary greatly from patient to patient. What were your symptoms at the onset of your disease?
Abdominal pain is pain in the belly and can be acute or chronic. Causes include inflammation, distention of an organ, and loss of the blood supply to an organ. Abdominal pain can reflect a major problem with one of the organs in the abdomen such as the appendix, gallbladder, large and small intestine, pancreas, liver, colon, duodenum, and spleen.
Diarrhea is a change is the frequency and looseness of bowel movements. Cramping, abdominal pain, and the sensation of rectal urgency are all symptoms of diarrhea. Absorbents and anti-motility medications are used to treat diarrhea.
Rheumatoid arthritis is an autoimmune disease that causes chronic inflammation of the joints, the tissue around the joints, as well as other organs in the body. Because it can affect multiple other organs of the body, rheumatoid arthritis is referred to as a systemic illness and is sometimes called rheumatoid disease.
Gas or "intestinal gas" means different things to different people. Everyone has gas and eliminates it by belching or farting (passing it through the rectum).
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
Blood clots can occur in the venous and arterial vascular system. Blood clots can form in the heart, legs, arteries, veins, bladder, urinary tract and uterus. Risk factors for blood clots include high blood pressure and cholesterol, diabetes, smoking, and family history. Symptoms of a blood clot depend on the location of the clot. Some blood clots are a medical emergency. Blood clots are treated depending upon the cause of the clot. Blood clots can be prevented by lowering the risk factors for developing blood clots.
Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
Systemic lupus erythematosus is a condition characterized by chronic inflammation of body tissues caused by autoimmune disease. Lupus can cause disease of the skin, heart, lungs, kidneys, joints, and nervous
system. When only the skin is involved, the condition is called discoid lupus.
When internal organs are involved, the condition is called systemic lupus
erythematosus (SLE).
In lactose intolerance, the digestive system cannot digest lactose (the main sugar in milk). Symptoms of lactose intolerance include diarrhea, flatulence, abdominal pain, abdominal bloating, abdominal distention, and nausea. There are several tests to diagnose lactose intolerance. Treatment is generally made with dietary changes, supplements, and adaptation to small amounts of milk.
Stool color is generally brown. When stool color changes, often, an individual becomes concerned. The presence of the bilirubin in bile is generally responsible for stool color. Bilirubin concentration can vary bile color from light yellow to almost black in color. Changes in bilirubin can cause stool to turn green, gray, or clay-like in color. Intestinal bleeding may turn stool black, tarry, red, maroon, or smelly stool. Medication and food may also affect stool color.
Small intestinal bacterial overgrowth (SIBO) refers to a condition in which abnormally large numbers of bacteria (at least 100,000 bacteria per ml of fluid) are present in the small intestine and the types of bacteria in the small intestine resemble more the bacteria of the colon than the small intestine. There are many conditions associated with small intestinal bacterial overgrowth, to include: diabetes, scleroderma, Crohn's disease, and others. There is a striking similarity between the symptoms of irritable bowel syndrome and SIBO. It has been theorized that SIBO may be responsible for the symptoms of at least some patients with irritable bowel syndrome. Symptoms of SIBO include: excess gas, abdominal bloating, diarrhea, and abdominal pain.
Learn about osteoporosis, a condition characterized by the loss of bone density, which leads to an increased risk of bone fracture. Unless one experiences a fracture, a person may have osteoporosis for decades without knowing it. Treatment for osteoporosis may involve medications that stop bone loss and increase bone strength and bone formation, as well as quitting smoking, regular exercise, cutting back on alcohol intake, and eating a calcium- and vitamin D-rich balanced diet.
The most common food allergies are to eggs, nuts, milk, peanuts, fish, shellfish, strawberries and tomatoes. Symptoms and signs include nausea, vomiting, diarrhea, abdominal pain, itching, hives, eczema, asthma, lightheadedness, and anaphylaxis. Allergy skin tests, RAST, and ELISA tests may be used to diagnose a food allergy. Though dietary avoidance may be sufficient treatment for mild allergies, the use of an Epipen may be necessary for severe food allergies.
Peripheral neuropathy is a problem with the functioning of the nerves outside of the spinal cord. Symptoms may include numbness, weakness, burning pain (especially at night), and loss of reflexes. Possible causes may include carpel tunnel syndrome, meralgia paresthetica, vitamin or nutritional deficiencies, and illnesses like diabetes, syphilis, AIDS, and kidney failure. Most causes of peripheral neuropathy can be successfully treated or prevented.
Pernicious anemia is a blood disorder in which the body does not make enough red blood cells due to a lack of vitamin B12 in the blood. Pernicious anemia can develop from a lack of a protein that helps the body absorb vitamin B12, not getting enough B12 in the diet, and certain intestinal conditions that interfere with the absorption of vitamin B12 such as Crohn's disease, celiac sprue, or ulcerative colitis. There is no cure for pernicious anemia, thus treatment is life-long.
There are many types of thyroid disease. Some occur due to the function of the thyroid itself such as hypothyroidism, hyperthyroidism, Hashimoto's thyroiditis, etc. Some causes of thyroid disease occur due to problems with the structure of the thyroid gland such as goiters, thyroid nodules, and thyroid cancer. Treatment of thyroid disease depends on the cause of the disease.
Canker sore is a small ulcer crater in the lining of the mouth. Canker sores are one of the most
common problems that occur in the mouth. Canker sores typically last for
10-14 days and they heal without leaving a scar.
The major goal in treating diabetes is controlling elevated blood sugar without causing abnormally low levels of blood sugar. Treatment for type 1 diabetes is with insulin, exercise, and a diabetic diet. Treatment for type 2 diabetes is first treated with weight reduction, a diabetic diet, and exercise. When these measures fail to control the elevated blood sugar, oral medications are used. If oral medications are still insufficient, insulin medications are considered.
Infertility is the diminished ability to conceive a child. The primary cause of infertility in men is a sperm disorder. In women, the primary cause of infertility is an ovulation disorder. Most forms of infertility can be treated. Conventional infertility therapies include drugs or surgery.
Osteopenia is a bone condition characterized by bone loss that is not as severe as in osteoporosis. Bone fracture is the typical symptom of osteopenia, though the condition may be present without symptoms. Treatment involves lifestyle modifications (quitting smoking, not drinking in excess) and ensuring an adequate intake of vitamin D and calcium.
Patients with celiac disease are required to eat a gluten-free diet. Gluten is found in rye, barley, and wheat. Gluten damages the intestine in patients with celiac disease. Some mediations contain gluten, so careful monitoring of products consumed is imperative. Patients with celiac disease are also at risk for developing nutritional deficiencies. The information in this article contains both foods that contain gluten, and foods that do not contain gluten.
Digestion is the complex process of turning food you eat into the energy you need to survive. The digestive process also involves creating waste to be eliminated, and is made of a series of muscles that coordinate the movement of food.
Vitamin D deficiency has been linked with rickets, cancer, cardiovascular disease, severe asthma in children and cognitive impairment in older adults. Causes include not ingesting enough of the vitamin over time, having limited exposure to sunlight, having dark skin, and obesity. Symptoms include bone pain and muscle weakness. Treatment for vitamin D deficiency involves obtaining more vitamin D through supplements, diet, or exposure to sunlight.
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