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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The most specific tests are tests for Celiac disease endomysial antibodies (EMA) and
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 are considered very sensitive but not specific for Celiac disease. Newer assays for AGA antibodies for gluten that has undergone a chemical change
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 have been helpful. Such stool testing has been performed in research labs and published in a few studies but are only recently available through the commercial lab, Enterolab. Founded by a former Baylor research gastroenterologist, Dr Ken Fine, the tests are available to people online without a doctors order but are not generally covered by insurance. Dr. Fine, who patented the test, has yet to publish the results of his findings in a peer reviewed journal so his tests are not widely accepted. However, his unpublished data and the clinical experience of some of us who have used his test have
indicated the tests are very sensitive for signs of gluten sensitivity. He reports that they are 100% sensitive for Celiac disease and highly sensitive
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 as immunohistochemistry stains. They stain specialized white
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 is not a gold standard for detecting gluten sensitivity. This fact is appreciated by many individuals who have respond to a gluten-free diet they start
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 or
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 they carry one of the two high risk gene types for Celiac disease or
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 researchers reproducing his results.

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 with improvement of
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 recommending a
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.

Diagnosing Celiac Disease and Gluten Sensitivity

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Gluten Intolerance Vs Celiac Disease

People often assume gluten intolerance and celiac disease are one and the same. While celiac disease is a gluten sensitivity, it is possible to exhibit clear signs of a gluten sensitivity without testing positive for celiac sprue disease. One accurate way to look at it is to view celiac disease as a severe and more clearly diagnosed subset of a gluten intolerance. Let's walk through some of the similarities and differences between gluten intolerance vs celiac disease.

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Similar Symptoms

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One obvious similarity is that the symptoms experienced by someone who is intolerant to gluten and someone diagnosed as a celiac will be very similar. The primary symptoms will include alternating bouts of constipation and diarrhea, excessive foul-smelling flatulence, intestinal bloating and cramping, lethargy, weight-loss and sore joints.

Similar Microvilli Response To A Gluten-Free Diet

One way doctors try to diagnose people as celiac or not is to take a biopsy of the small intestine wall before having the patient subscribe to a strict gluten-free diet and then after that patient has been on that diet for some time (usually at least six weeks).

Along the walls of the small intestines are little finger-like hairs called villi or microvilli. Someone suffering from both gluten intolerance and celiac disease will have damaged microvilli, and after subscribing to a strict gluten-free diet for a good period of time, the microvilli will start to recover.

Different Presence of Antibodies

The most common blood test for celiac sprue disease involves checking for raised levels of specific antibodies that are triggered by consuming gluten. These antibodies are AGA, EMA, and Anti-tTG. However, there have been cases where someone who broadly exhibits negative effects from consuming gluten won't always show a clear sign of having these antibodies at a raised level. In some people, these antibody levels may fluctuate, so testing them at different times may create different results.

While the presence of these antibodies strongly suggests celiac disease is present, some people have exhibited a clear negative response to consuming gluten despite testing negatively for this blood test, so it can be a difference.

Different Presence of Specific Genes

If DNA testing is conducted, a pretty stark line can be drawn between gluten intolerance vs celiac disease. If you exhibit symptoms of a sensitivity to gluten and you have the HLA-DQ8 or HLA-DQ2 genes, than you have celiac disease. If you show all the signs of being gluten sensitive but you don't have these genes you will be diagnosed as having an intolerance to gluten but you may not be diagnosed a celiac sufferer.

However, the genes associated with various degrees of gluten sensitivity are currently being researched and our understand of this matter appears to be evolving. But for now, this is another difference between those who would be considered gluten intolerant compared to those who would be officially diagnosed as having celiac disease.

Just because you test negative for celiac disease doesn't mean you aren't suffering from some form of gluten sensitivity. Please see your doctor before defining yourself either way. Specifically, I encourage you to discuss the matter with an immunologist who has specific experience with gluten sensitive patients.

Gluten Intolerance Vs Celiac Disease

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Celiac Disease and Gluten Linked to Brain Disease by Deposits in Intestine and Brain

Antibodies for tissue transglutaminase found in the intestines of blood test negative celiac disease patients are also found in the intestine and brain in people with brain disease due to gluten. Gluten ataxia is a brain disorder characterized by balance disturbances not explained by any other cause but due to the ingestion of gluten. The disorder responds to a gluten free diet if irreversible brain damage has not already occurred. Calcifications can be seen in the brain on magnetic resonance imaging (MRI).

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Deposits of gluten related antibodies have been found in brain tissue obtained on biopsy and autopsy specimens. Mario Hadjivassiliou, M.D. from Sheffield England recommends gluten ataxia be added to a list of gluten related diseases that includes peripheral neuropathy and the skin disorder dermatitis herpetiformis. He has called for a new paradigm to be accepted where celiac disease is not considered primarily as an intestinal disease.

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Dr. Hadjivassiliou and colleagues recently published a report of nine patients with gluten ataxia compared with seven patients with ataxia due to other causes. They found tissue transglutaminase IgA deposition on jejunum intestinal tissue on all nine patients with gluten ataxia but none of the control patients. Brain tissue from an autopsy of one patient with gluten ataxia was also found to have IgA tTG deposits in the cerebellum, pons and medulla of the brain but not in a control brain.

Previous studies have found negative celiac blood tests in patients with gluten ataxia suggesting that they may not have celiac though they had a gluten related disease. In light of a new report that blood test negative celiac disease can have intestinal tTG and advanced intestinal damage it is curious to wonder if the gluten ataxia patients with blood tests negative are seronegative celiacs. It is increasingly appearing that there is a very broad spectrum of gluten related disease and there are non-celiac gluten related symptoms that include the brain, skin, musculoskeletal system as well as the gut.

Many patients I have seen with gluten sensitivity describe symptoms of balance difficulty, concentration problems or "brain fog", headaches, and neuropathy and a few report symptoms such as "bug crawling" sensations and strange muscle twitches. These symptoms commonly improve with a gluten-free diet and return with intentional or accidental gluten exposure. For some, intestinal symptoms or skin rashes occur but not all. The concept of gluten as a cause of brain symptoms is still not one widely known or accepted by many doctors, especially in the United States. However in Europe, especially England, Germany and Scandinavian countries, as well as Australia and New Zealand the gluten brain-gut connection is more accepted.

Casein causing brain symptoms is also not commonly accepted by doctors in the U.S. though many lay public organizations and support groups have found a casein-free diet to be associated with improvement of brain function as well as helping autism.

What is needed is more openness of U.S. doctors to the role of diet and foods in such symptoms and diseases and much more scientific research. I ask you to join me on the journey of the food, bacteria, gut-brain-joint-skin connection to disease and health.

References:

Autoantibody targeting of brain and intestinal transglutaminase in gluten ataxia. Hadjivassiliou M. et. al. Neurology 2006; 66:373-377.

Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut 2006; 55:1746-1753.

Celiac Disease and Gluten Linked to Brain Disease by Deposits in Intestine and Brain

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Gluten Allergies, Celiac Disease and Dairy

Gluten is found in the protein of cereal grains. It can be found in a wide variety of foods and some people have allergies to it. Allergies to gluten are found in women more than men and tend to affect those of European descent.

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Gluten allergies can cause eczema, skin rashes, itching and hives. More severe sufferers may develop asthma. Nearly 43 percent of gluten allergy sufferers who never seek treatment will get arthritis. Fifteen percent who go on a gluten-free diet because of their allergies will get arthritis anyway.

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Celiac, also known as Coeliac is a disease of the gastrointestinal tract that very often forms directly from an allergic reaction to gluten. Its symptoms are similar to those of a regular gluten allergy, but it can also cause brain dysfunction, arthritis and inflammation of the lungs. You might also notice a clay-colored greasy stool. It is much more serious than the allergies it came from and must be guarded against.

Symptoms that gluten allergies have turned to Celiac are diarrhea, weight loss, iron deficiency, bloating, abdominal pain and malnutrition. The latter is caused by a decreased ability to absorb essential nutrients like iron and vitamins K and D. Celiac sufferers are at higher risk for esophagus, pharynx and small intestinal cancer. Fibroid lung disease seems to occur at a higher rate in gluten allergy and Celiac sufferers.

The treatment for both gluten allergies and Celiac is avoidance of gluten. There is no cure for any allergy. One must simply avoid the allergen. When doing so, it's a good idea to take some natural supplements to replace the nutrients you're missing in your gluten-free diet. They'll help build your body back up to its normal, healthy state.

So what is a gluten-free diet? It's one in which you eat no food containing wheat, oats, barley or rye in any form whatsoever. It can be difficult, but once you start finding alternatives to grains, you'll start feeling better quickly. It's important to find other tasty foods in order to keep yourself away from those that will make you sick.

It's important to note that if you have been diagnosed with a gluten allergy, it's very likely you also are sensitive to dairy products. Milk or dairy allergies are sensitivities to proteins found in cows' milk. Most cows eat a lot of grain and perhaps a link can be inferred.

Milk allergy symptoms can occur within minutes or hours after consuming the dairy product. They can be triggered by a very small amount of milk protein in the system. Like gluten allergy symptoms they can be skin reactions, like swollen lips, tongue, mouth, face or throat. They can also be digestive reactions, such as vomiting, stomach cramps or diarrhea. Respiratory reactions can include a runny nose, sneezing, watery eyes or shortness of breath.

The needed nutrient in dairy products that must be replaced when embarking on a gluten- and dairy-free diet is primarily calcium. Aside from natural supplements, increase your intake of calcium-rich foods like seafood, spinach, broccoli and salmon.

A gluten allergy is not the end of the world. There are plenty of fresh, colorful and tasty foods that contain no grain or dairy. But you must stay vigilant to keep your allergies from turning into something much worse.

Gluten Allergies, Celiac Disease and Dairy

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