Diagnosing Celiac Disease and Gluten Sensitivity
Celiac disease, also known as gluten sensitive enteropathy is very common but frequently missed. It is an autoimmune disease of intestinal damage due to gluten in people who are genetically predisposed. Classic Celiac disease is diagnosed by abnormal blood tests and an abnormal
appearing intestine on biopsy and symptoms that resolve with a gluten free diet.
Several blood tests exist for Celiac disease. They have varying degrees of accuracy. Some are more sensitive, meaning they will be positive in milder forms of the disease but are not specific, meaning a positive test may not indicate Celiac disease. Others are felt to be very specific, meaning that when they are positive, it is almost certain you have the disease.
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tissue transglutaminase antibody (tTG) tests. These two tests are IgA based tests and can be negative if you are deficient in the immunoglobin IgA, which occurs in 10-20% of people with Celiac. When either EMA or tTG are positive Celiac disease is very likely and usually the intestine biopsy is positive. Recent studies indicate that the tTG may only be positive in 40% of true Celiacs when mild degrees of intestine damage are present on biopsy. Seronegative Celiac, meaning the blood tests are negative but the biopsy is positive, may occur in up to 20% of Celiacs.
Antibodies for gliadin (AGA), the toxic fraction of gluten
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called deamidation appear to be more specific for Celiac disease (Gliadin II,
Inova) than the older gliadin tests. They also may be as or more accurate than EMA and tTG
antibody tests but are not yet widely available.
The most distressing problem for people with lesser forms of gluten intolerance who have blood tests and/or biopsies that are normal or borderline yet respond to a gluten free diet is either not being taken seriously or knowing for sure if they are sensitive to gluten. For these individuals stool
antibody testing for antigliadin and tTG
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indicated the tests are very sensitive for signs of gluten sensitivity. He reports that they are 100%
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for gluten sensitivity of lesser degrees. In the presence of symptoms, that reverse on a gluten-free diet,
abnormal stool antibody levels can be found in most people before blood tests or biopsies become
abnormal.
Small intestine biopsies during upper gastrointestinal endoscopy
are considered the gold standard for the diagnosis of Celiac disease.
However, recent studies have demonstrated that some people with gluten sensitivity, especially relatives of Celiacs
with little or no symptoms, have changes from gluten injury to the intestine that can not be seen with normal microscope examination. They can only be seen with special stains not routinely done or with a research electron microscope. The special stains are known
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blood cells called lymphocytes in the intestinal lining tips or villi. When these lymphocytes are increased it is known as intraepithelial lymphocytosis or increased IELs and it is the earliest sign
of gluten induced injury or irritation. Electron microscopy also reveals very early ultrastructural changes in some individuals when blood tests and standard biopsy examination are normal. When people who have these changes are
offered the option of a gluten-free diet they usually responded favorably. In contrast, those who continue to eat gluten often later developed classic Celiac disease.
What these studies suggest is that a normal small intestine biopsy may exclude
Celiac disease as defined by strict criteria but it
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based on their symptoms, family history, suggestive blood test or stool antibody
test(s).
Another source of confusion is in the genetics of Celiac and gluten sensitivity.
Testing for specific blood type patterns on white blood cells known as HLA
DQ2 and DQ8 is increasingly being employed to determine if a person carries either of the two gene
pattern present in 95-98% of Celiacs and predisposing them to the development of Celiac disease. Some use the absence of these two patterns
as a way of excluding the possibility of Celiac disease and the need for testing
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gluten-free diet. However, there are rare reports of documented Celiac disease in people who are DQ2 and
DQ8 negative. Moreover, recent studies indicate other DQ
patterns may be associated with gluten sensitivity though unlikely to
predispose to classic Celiac disease.
Testing for all the DQ patterns is advocated by Dr. Fine, based on his
experience with stool antibody test results. He reports that other DQ types are
associated with elevated levels of gliadin and tTG in the stool and symptoms that respond to a gluten-free diet.
According to his unpublished data, all the DQ types except DQ4 are associated with
a risk of intolerance to gluten. Therefore, testing for all the DQ types allows a person to
determine if
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any of the other “minor DQ” genes Fine has found associated with gluten sensitivity.
Enterolab’s stool testing for gliadin antibodies and tissue
transglutaminase antibodies, though not widely accepted, have gained favor in the lay
public s opinion as an option for determining sensitivity to gluten either despite negative blood tests and/or biopsies or in place of the more invasive tests. Most doctors still recommend the accepted blood tests and small
bowel biopsy for confirmation of Celiac. Though the reports in the lay community
are overwhelmingly positive they have not been subjected to peer review in
the medical community pending Dr. Fine publishing his data or other
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However, doctors open to
the broader problem of gluten
sensitivity are reporting these tests helpful in many patients suspected of gluten
intolerance. Especially when someone has symptoms consistent with gluten sensitivity but has negative or inconclusive blood tests and/or biopsies these tests may be very helpful though some are not certain
how to interpret the tests. The national Celiac organizations are uncertain about how to
comment on their application without published research though a recent article
in the British Medical Journal did show stool tests highly specific for Celiac. Dr.
Fine has publicly commented that his unpublished data demonstrates those with
abnormal stool tests indicating gluten sensitivity
overwhelmingly respond favorably to a gluten free diet
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symptoms and general quality of life.
Another problem is that there are not universally agreed upon definitions for gluten sensitivity or intolerance. This becomes especially difficult for those who do not meet strict criteria for Celiac disease yet may have abnormal tests and/or symptoms that respond to a gluten-free diet. Those individuals become confused when they try to find information but do not have a formal diagnosis of Celiac disease. Consensus in the medical community on definitions and more research in this area is greatly needed.
The few doctors who appreciate the spectrum of gluten
intolerance or sensitivity are outnumbered by the medical majority that continue to
insist on strict criteria for diagnosis for Celiac disease before
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gluten-free diet. Doctors either unfamiliar with the limitations of the tests as documented by Celiac research or who insist on the
strict criteria for Celiac being the only indication for recommending a gluten free
diet unfortunately may confuse or frustrate gluten sensitive individuals. Some of these people then seek answers on the internet or from alternative practitioners. Many have their diagnosis missed, challenged, dismissed, or are misinformed. As a result they fail to benefit from the health
benefits of a gluten-free diet because they are advised that it is not required based on normal blood tests and/or normal biopsies. In the meantime, Celiac disease and gluten sensitivity continue to be undiagnosed or misdiagnosed. For more information visit http://www.thefooddoc.com.
Dr.
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