stool-test

The Stool Test

Dr. Kenneth Fine at Enterolab has developed a stool test to measure gluten sensitivity. This test requires collecting a stool specimen from the comfort of your own home and mailing it on to Texas. The specimen is then tested for anti-gliadin IgA and anti-tissue transglutaminase IgA. IgG is not tested, as it is not measureable in the stool.

Dr. Fine argues that the stool analysis is much more accurate than serological tests. In his own research he has found that 64% of patients with microscopic colitis have HLA-DQ2, however very few of them, only 9%, have anti-gliadin antibody in the blood. Dr. Fine argues that small bowel biopsies of these patients show that as many as 70% have mild villous blunting, yet not full villous atrophy. Furthermore, he has found that as many as 76% have anti-gliadin in their stool.

The stool test through enterolab also measures fecal fat, indicating malabsorption. The Gluten Free RN recommends Enterolab’s stool panel combined with the genetic test they offer in order to test for celiac disease/gluten intolerance.

dna

Genetic Testing

Genetic testing for celiac disease is available at such places as Prometheus Laboratories, Enterolab, and Kimball Genetics.

There are two genes currently associated with celiac disease that these companies are looking for via a blood sample or a cheek swab: HLA DQ2 or HLA DQ8. These tests are extremely accurate and without one of the two genes, you are practically guaranteed not to have celiac disease. These tests can also be helpful in determining your family’s predisposition for the disease. For instance, I am homozygous, meaning I have two of the genes associated with celiac disease. Thus, it is guaranteed that each of my parents has at least one gene and that all of my children will inherit one gene.

There are a few discrepancies with genetic testing. Most tests simply look for the beta subunit of the gene; however a positive alpha subunit could lead to celiac disease and is often missed.

While HLA DQ2 and HLA DQ8 are the genes for celiac disease, their absence does not exclude the possibility of gluten intolerance. New research is beginning to show that only the HLA DQ4 gene has been shown to have no association with gluten intolerance. Yet only 0.4% of the population in the United States contains only this gene. Currently, only Enterolab will tell you whether you have the genes associated with gluten intolerance. However, if 99.6% of the population contains at least one of the genes associated with gluten intolerance and celiac disease, is it necessary?

References

Fine, MD, K. (2003). Early diagnosis of gluten sensitivity: before the villi are gone. Proceedings of the Greater Louisville Celiac Sprue Support Group, https://www.enterolab.com/StaticPages/EarlyDiagnosis.htm

blood-test

Serological Tests

Serological tests can provide an effective first step for celiac disease. These tests typically look for three antibodies that are common in celiac disease:

  1. Anti-tissue transglutaminase (tTG) antibodies
  2. Endomysial antibodies (EMA)
  3. Antigliadin antibodies (AGA)

These antibody tests can be of two classes, the immunoglobulin A (IgA) class or the immunoglobulin G (IgG) test. IgA tests are more sensitive and are more likely to be used. However, individuals with celiac disease are ten times more likely than the average person to be deficient in IgA. Therefore, total IgA and IgG should be tested. In the case of deficiency, IgG must be used.

The antibodies, tTG and EMA are more commonly tested for. AGA is not as sensitive or specific, however it is useful for testing children less than two years of age as tTG and EMA tests are inaccurate in infants.

The problem

  1. Currently, there is not a set standard for ordering this test, and doctors frequently order incomplete panels.
  2. As mentioned, patients with celiac disease are ten times as likely to be IgA deficient then the rest of the population. Unfortunately, this is typically the panel ordered, and when a negative test is found, IgA deficiency is not commonly looked for.
  3. A positive tTG or EMA will not usually result in a diagnosis of celiac disease. Instead most are referred to their gastroenterologist for a small bowel biopsy. Only if the biopsy comes back positive they be diagnosed. However, tTG and EMA elevation directly correlate with gastrointestinal damage due to gluten.
  4. Patients need to be on a gluten containing diet at the time the blood panel is taken. A gluten free diet will lead to a negative test.
  5. With a negative test, patients and doctors often assume that it equals a negative diagnosis of celiac disease for life. This is not the case. These blood tests are highly specific, meaning there is little chance for a false positive. However, they are not extremely sensitive, meaning you need to have full blown celiac disease in order to yield a positive test. A positive blood test means the damage has already been done to your body. Why wait to go on a gluten free diet until this point?

References

Fine, MD, K. (2003). Early diagnosis of gluten sensitivity: before the villi are gone. Proceedings of the Greater Louisville Celiac Sprue Support Group, https://www.enterolab.com/StaticPages/EarlyDiagnosis.htm

Testing for celiac disease. (2009, April). Retrieved from http://digestive.niddk.nih.gov/ddiseases/pubs/celiactesting/index.htm

 

cd-biopsy

Small Bowel Biopsy, a Tarnished Silver Test

If a positive serological test results, it is current practice that an intestinal biopsy must be done in order to determine intestinal damage. This “gold standard” for celiac disease diagnosis is considered necessary in the medical world in order to diagnose celiac disease and recommend a gluten free diet. However, many are beginning to recognize this test as no better than “tarnished silver”.

Small bowel biopsies are done during an endoscopy. When the patient is asleep, the doctor passes a long, narrow tube through the patient’s mouth and stomach into their intestine. Small instruments are then passed through the endoscope to remove tissue samples, usually in the descending duodenum. A pathologist can study these tissue samples to look for villi damage.

Dr. Peter Green discusses some of the drawbacks of the small bowel biopsy:

“In a large multicenter study, 10.7% of biopsy procedures were inadequate for diagnosis. This is mainly due to inadequate orientation of the small specimens…Not all endoscopic biopsy specimens are viewed and interpreted by GI pathologists…When the slides are obtained for review, only one or two biopsy specimens are on the slide…Villous atrophy in celiac disease is patchy, and orientation of the biopsy specimens is variable.”

In essence, the intestinal biopsy will only appear positive if the villi damage has been done to the portion of the small intestine being tested. Furthermore, the tissue needs to be cut at the appropriate angle and the pathologist needs to know what he is looking for. Lastly, why is this needed, if a positive serological panel for celiac disease already exists? After all, the autoantibodies directly correlate with the damage to the gut.

To answer this question we must step back in time. In the 1950s Sidney Haas began to recognize mild cases of chronic or recurrent diarrhea could be signs of celiac disease, where previously it had only been severe cases in children that were diagnosed. However, in 1956 Margot Shiner devised the first intestinal biopsy. With the new diagnostic tool, pathological changes in the intestine replaced clinical observation. It is important to note that these pathological changes are due to severe damage to the intestine, thereby eliminating the mild cases Sidney Haas had begun to diagnose. Quickly, celiac disease began to disappear from the United States repertoire of diagnoses.

My question to you is this: Why wait until the damage to the small intestine has already been done before going on a gluten free diet? Why not start it today and prevent yourself the harm in the first place?

References

Abel, E K. (2010). The Rise and fall of celiac disease. Journal of the History of Medicine, 65, 81-105.

Green, P H. (2008). Celiac disease: how many biopsies for diagnosis? Gastrointestinal Endoscopy, 67(7), Retrieved from http://www.charlotte-celiac-connection.org/files/Celiac_Disease_How_many_biopsies_for_diagnosis.pdf

Lapid, N. (2009, May 8). Celiac disease tests: diagnosing celiac disease requires blood tests and biopsy. Retrieved from http://celiacdisease.about.com/od/diagnosingceliacdisease/a/celiacdiagnosis.htm

 

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The Problem with Testing for Celiac Disease

There are several testing options available in order to determine whether you DO have celiac disease, yet we still lack an accurate test that will tell you whether you DON’T have celiac disease. Once ruled in with the condition, you’re in. However, it is nearly impossible to be ruled out.

Currently, if you ask to be tested for celiac disease by one of your doctors, the situation will go something like this: your doctor will order a blood test. If the test is negative, he/she will determine that you do not have celiac disease. If the test is positive, however, they will not determine that you do have celiac disease. Instead, they will refer you to a gastroenterologist for a small bowel biopsy, the ‘gold standard’ of testing. Only then, if the small bowel biopsy is positive will you be diagnosed with celiac disease.

But there are a few problems in these testing methods. Both the common blood panel and small bowel biopsy used for celiac disease diagnosis are fraught with error. Furthermore,  other testing options are available such as genetic testing, stool analysis testing and even an over-the-counter blood test not yet available in the United States. The Gluten Free RN’s advice for the best way to determine whether or not you are truly gluten intolerant and the free at home test- the gluten challenge.  Cyrex Labs is another great source for accurate blood antibody testing.

Click Here for PDFs of the recommended labs for baseline and followup testing:

Baseline

Follow-up

autism

Celiac Disease-Autism Link

The latest statistics say that 1 in 91 children have a diagnosis of autism. At the same time, it is now estimated that 1 in 100 individuals has celiac disease. Both of these conditions have paralleled each other in their increasing diagnosis over the years and recently, parents have been making the link, putting their children on gluten/casein free diets. However, what is behind the association between gluten and autism? Is there a link? Several studies say there is.

An association has been observed between children who have gastrointestinal symptoms and a family history of autoimmune disease as well as language regression (Valicenti-McDermott, McVicar, Cohen, Weshil, Shinnar, 2008). The study included 100 children with autism spectrum disorder. According to their parents, those with language regression more frequently suffered from abnormal stool patterns (40% versus 12%) and 24% of the children with language regression had an increased family history of celiac disease or IBD while none of the children without language regression did.

A smaller study of only 21 patients with autism found that 9 of the participants had an increased intestinal permeability compared to the control group (D’Eufemia, Celli, Finocchiaro, Pacifico, Viozzi, Zaccagnini, 1996). The study does not mention celiac disease, but it is important to note that it is a well known cause of increased intestinal permeability.

We are fairly certain that yes, a link between celiac disease and autism is there. But has it been shown that a gluten free diet might help ease the symptoms of autism? A 5-year-old boy diagnosed with severe autism and suffering from gastrointestinal symptoms was placed on a gluten free diet and given nutritional supplements in a clinical study (Genuis, Bouchard, 2010). Not only did his GI symptoms quickly resolve themselves, but his symptoms of autism also progressively subsided.

So does celiac disease have the potential to cause autism? And how does it do this? As the study of the young boy suggests, malabsorption as a result of celiac disease can lead to nervous system dysfunction thereby causing developmental delays. Another study mentions that the malabsorption of tryptophan in particular can lead to decreased central nervous system synthesis of serotonin (Margutti, Delunardo, Ortona, 2006).  They continue to discuss that autistic individuals have increased anti-brain autoantibody production. This includes autoantibodies to the serotonin receptor specifically. Children with autistic disorders have also been found to have high rates of IgG for brain-endothelial cells. While not mentioning celiac disease directly, they concluded that autoantibodies may be a causative factor for the development of autistic disorder syndrome.

Still a third study looks for celiac disease not in the autistic children themselves, but in their mothers (AtladOttir, Pedersen, Scient, Eaton, 2009). For the first time children of mothers who have celiac disease were found to have a three times greater risk for autism. The link is still not fully understood, but is thought to be due to deficiencies during pregnancy and/or prenatal antibody exposure. It is important to note that celiac disease is genetic. If the mother of a child with autism has celiac disease, it is highly possible that her child does as well.

While it is unlikely that celiac disease is behind all causes of autism, it is worth taking into account these recent studies. If you or your child has autism, look into a trial of a gluten/casein free diet.

References
 AtladOttir H, Pedersen M, Scient C, et al. Association of Family History of Autoimmune Diseases and Autism Spectrum Disorders. Pediatrics [serial online]. August 2009;124(2):687-694.
 D’Eufemia P, Celli M, Finocchiaro R, Pacifico L, Viozzi L, Zaccagnini M, et al. Abnormal intestinal permeability in children with autism. Acta Paediatr 1996; 85:1076-9.
 Genuis S, Bouchard T. Celiac disease presenting as autism. Journal Of Child Neurology [serial online]. January 2010;25(1):114-119.
 Margutti P, Delunardo F, Ortona E. Autoantibodies Associated with Psychiatric Disorders. Current Neurovascular Research. January 2006; 3: 149-157.
 Valicenti-McDermott M, McVicar K, Cohen H, Wershil B, Shinnar S. Gastrointestinal symptoms in children with an autism spectrum disorder and language regression. Pediatric Neurology [serial online]. December 2008;39(6):392-398.
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Sarcoidosis

Sarcoidosis and Gluten Intolerances

As someone who has been diagnosed with Lofgren’s Syndrome in the past, I was curious as to whether this acute form of sarcoidosis might be linked to my more recently diagnosed gluten intolerance. Several studies have shown links between celiac disease and sarcoidosis, a multisystemic inflammatory disease of unknown cause. One article in particular does a great job linking together the similarities:

“There is evidence suggesting that both sarcoidosis and celiac disease may be the result of defective antigen processing. Genetically, sarcoidosis is a complex disease with varying gene polymorphisms determining susceptibility and phenotype. In particular, the class II haplotype, HLA-DR3/HLA-DQ2, has been shown to be increased in several cohorts with sarcoidosis, and has also been linked to other autoimmune disorders. Interestingly, susceptibility to celiac disease is linked to HLA-DQ2…”  (Hwang, McBride, Neugut, and Green 977-81)

Another study reviewing the presence of gluten intolerance and gastric immunity discovered these two conditions in a staggering 40% of their patients with sarcoidosis (Papadopoulos, Sjoberg, Lindgren, and Hallengren 525-31). And yet another earlier article found that intraepithelial lymphocytes (IELs) and circulating antibodies to alpha-gliadin (AGA) were significantly raised in sarcoidosis (McCormick, Feighery, Dolan, O’Farrelly, and Kelliher 1628-31). And in case you weren’t aware, increased IELs and AGAs are typical in celiac disease as well.

If you have sarcoidosis, or have dealt with this condition in the past you might want to bring up celiac disease with your doctor.

And, if you are in the area, Nadine will be presenting an “Introduction to Gluten Intolerance and Celiac Disease” at the Portland sarcoidosis support group meeting on Saturday, January 30th and to the Albany support group on Saturday, February 13th.

Resources

Hwang, Elizabeth, Russell McBride, Alfred I. Neugut, and Peter H.R. Green. “Sarcoidosis in Patients with Celiac Disease.” Dig Dis Sci. 53. (2008): 977-81. Print.

McCormick, P A, C Feighery, C Dolan, C O’Farrelly, P Kelliher, F Graeme-Cook, A Finch, K Ward, M X Fitzgerald, D P O’Donoghue, and D G Weir. “Altered gastrointestinal immune response in sarcoidosis.” Gut. 29. (1988): 1628-31. Print.

Papadopoulos, K.I., K. Sjoberg, S. Lindgren, B. Hallengren, and P Kelliher. “Altered gastrointestinal immune response in sarcoidosis.” Gut. 29. (1988): 1628-31. Print.

 

caution-bread

Associated Disorders of Celiac Disease

Anyone with these associated diagnoses should be tested for Celiac Disease OR should consider a Gluten Free Diet for at least a month.

  • IBS/IBD, GERD, Any Gastrointestinal Disorder
  • Chronic Anemia, Blood Disorders
  • Migraine Headaches
  • Neuropathy
  • Any Skin Rash, Eczema, Psoriasis
  • Osteoporosis/Osteopenia
  • Chronic Fatigue Syndrome
  • Fibromyalgia
  • Arthritis
  • Lymphoma
  • Cancers, Bowel and others
  • Turner’s Syndrome, Down Syndrome, William’s Syndrome, IgA deficiency
  • Infertility
  • Any Other Auto-Immune Disorder (Thyroid Disorders, Type 1 Diabetes, Sjogren’s Syndrome, Liver Disease, Arthritis, Lupus, Multiple Sclerosis, Sarcoidosis, Cardiomyopathy, Addison’s Disease)
  • Aphthous Stomatitis/ Canker Sores
  • Allergies
  • Asthma
  • ADHD, Autism, ODD, ADD
dermatitis herpetiformis

CD and Your Skin

The skin is highly affected by patients with untreated gluten intolerance. Dermatitis herpetiformis is widely recognized as being associated with CD/GI, however there are other skin issues that can result, but often go unnoticed.

Dermatitis herpetiformis is a skin condition affecting at least 25% of patients with celiac disease. It is caused by IgA deposits in the papillary dermis (right underneath the top layer of skin). These deposits are the result of epidermal tranglutaminase auto-antibodies. The rash is usually extremely itchy, and can be painful. The red skin eruptions are described as being on the limbs, trunk and scalp- that covers pretty much EVERYWHERE on your body. Like celiac disease, DH is often undiagnosed. In a study by Pfeiffer in 2006 says, “Suspecting and then searching for dermatitis herpetiformis is often clinically challenging, as the disease is a true chameleon with many clinical faces.”

Other skin issues in celiac disease can also be the result of multiple deficiencies. Zinc is essential for the repair and renewal of skin cells. Zinc deficiency can lead to eczema, psoriasis, acne, nasal polyps, and darkening skin. Zinc is also needed for the conversion of essential fatty acids into other compounds. Deficiency of omega-3 fatty acids can lead to dry skin and hair, which can be mistaken as eczema, as well as hard, dry, itchy papules called prurigo nodularis. Vitamin A deficiency can lead to pityriasis rubra pilaris, a type of dermatitis leading to thick, scaling skin and often associated with anemia. Iron deficiency can lead to a pruritic skin rash, a fancy term for “itchy skin”.

Still, untreated celiac disease can lead to even more skin issues not related to deficiencies. Scleroderma, causing hyperpigmented, taut shiny skin that looks like you had facial chemical peel gone wrong.  Seborrhea, a sebaceous gland disorder causing scaly patches and bumps on the skin. Vitiligo and the permanent loss of melanocytes. Erythema nodosum. Ichthyosis. Melanoma. Each of these skin disorders have a much higher prevalence rate in untreated celiac disease.

Skin conditions can be slow to heal on a gluten free diet, but strict adherence is successful in clearing up the painful and itchy issues in most cases. Skin conditions caused by deficiencies are the quickest to heal. The good news? A gluten free diet will, at the very least, halt the progression of the condition.

If you have an itchy rash, or unidentified skin condition anywhere on your body, we recommend getting tested for celiac disease and trying a gluten free diet.