Jump to content



Celiac.com Sponsor (A1):



Celiac.com Sponsor (A1-m):


  • You've found your Celiac Tribe! Join our like-minded, private community and share your story, get encouragement and connect with others.

    💬

    • Sign In
    • Sign Up
  • Record is Archived

    This article is now archived and is closed to further replies.

    Scott Adams
    Scott Adams

    Your DNA Results Indicate: Super Celiac! By Scott Adams

    Reviewed and edited by a celiac disease expert.

    scottadams_photo.jpgThis article originally appeared in the Summer 2004 edition of Celiac.coms Scott-Free Newsletter.



    Celiac.com Sponsor (A12):






    Celiac.com Sponsor (A12-m):




    Celiac.com 10/27/2004 - I recently decided to have my DNA and that of my son screened for the genetic markers, also known as HLA alleles, which make celiac disease possible. Both my mother and I have long since been diagnosed with the disease, so I naturally worry that my son Spencer may also end up with it at some point in his life. Even though he has been mostly symptom-free for his entire life—all three and a half years of it—last year I subjected him to serological screening after he had a several week bout with diarrhea. We were happy to discover that he did not have it, but I still knew that such tests could not rule the disease out of his future. Even so, it was nice to learn that he did not have the active disease, although a blood draw at two years of age was not exactly a pleasant experience for him—or for his parents! I swore then that I would try to avoid any unnecessary blood draws in the future, even though I knew that it might still be necessary from time to time—unless he somehow did not inherit the genetic markers for it—the idea of which led me to my decision to have Spencers DNA screened for celiac disease.

    After mentioning my plans for the DNA screening at a family dinner, my brother also grew interested, as he too has had unexplained symptoms and a recent negative celiac disease antibody panel and biopsy. He too felt that it would be nice to find out once and for all if this was something that he was going to have to worry about in the future. He also pointed out to me that genetic screening had the potential to save him money over the long haul, since the test is only necessary once in a lifetime. Periodic antibody screening for the disease can prove to be quite expensive, and a negative DNA test would effectively rule out the necessity of any future testing. After we finished our dinner that evening I sat down with my brother and we reviewed several offerings on the Internet by companies who provide genetic services for celiac disease, and were particularly impressed by one of them—Kimball Genetics, located in Denver, Colorado, as their DNA collection method did not require a blood draw and instead employed a simple and painless cheek cell collection using a swab.

    The next day I telephoned Kimball Genetics and was connected with a very knowledgeable genetic counselor. After a discussion with her about my familys history I decided to order three celiac disease genetic tests, one each for my son, my brother, and myself. I requested three cheek cell collection kits to be sent to my home, where the samples would be collected and sent back to Kimball Genetics for testing. For individuals the cost of a kit is 10% off of $325, or $292.50 per test, and they offer a 20% family discount for testing additional family members, which brings the per test price down to $260. Kimball Genetics also offers assistance with billing your health insurance company, which can often result in the recovery of all or part of the costs incurred for the tests. This includes detailed help with the forms, insurance CPT codes for the procedure, as well as obtaining the ICD9 codes, which are the diagnostic and symptom codes that come from your doctor. At this point I realized that to get reimbursed for the tests a person should first make an appointment with their doctor, and ideally this appointment should take place before actually ordering a test kit. This will ensure that you and your doctor are on the same page regarding the importance and necessity of the genetic tests.

    The cheek cell collection kits arrived in the mail within a couple of days, and I phoned my brother to arrange a "DNA collection party" at my house. On collection day we opened the kits to find enclosed two brushes for sample collection, a Test Request Form, a consent form, medical literature regarding Kimball Genetics DNA screening test for celiac disease, and detailed instructions that outlined how to properly collect and mail the samples. The kits also included a stamped return envelope that was pre-addressed to their laboratory. The Test Request Form included an area where one could enter their credit card information, and this form along with the consent form and a check or card information were required to be sent along with the sample in the return envelope.

    The medical literature included with the kits comprised of a three page document titled "Celiac Disease DNA Test." The following two sections, which I found to be particularly helpful, are reproduced below from this document, which is also available on their Web site www.kimballgenetics.com:

    Indications for Celiac Disease DNA Testing:

    • Clinical diagnosis of celiac disease.
    • Negative or equivocal antibody results (antiendomysial, tissue transglutaminase, or antigliadin) or intestinal biopsy results in an individual with symptoms of celiac disease.
    • Relatives of individuals with celiac disease.
    • Individuals with iron-deficient anemia.
    • Individuals with dermatitis herpetiformis.
    • Adults with diarrhea, abdominal pain and distention, recurrent aphthous stomatitis (canker sores), osteoporosis, infertility, multiple miscarriages, anxiety, and/or depression.
    • Children with abdominal pain, diarrhea, abdominal distention, failure to thrive, short stature, delayed puberty, irritability, attention-deficit disorder and/or poor school performance.
    • Children with Type I diabetes.

    Our Celiac Disease DNA Test Service Provides:

    • PCR analysis for DQ2 alleles (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 allele (DQB1*0302).
    • Detailed reports with genetic interpretation, recommendations, and education.
    • Free genetic counseling for physicians, patients, and families.
    • Free shipping.

    The sample collection went very smoothly for each of us, and Spencer found it to be slightly more annoying than having to brush his teeth. We each rinsed our mouths out with water beforehand, and then rolled one brush at a time 20 times over the entire inside surface area of one check, and then did the same on the other cheek with the second brush. We let the samples dry for 30 minutes, and then put everything in their respective packages and envelopes along with the filled out paper work. Our final step was to put them out for the Mail Carrier to pick up. Their literature promised a 3-4 day turn around, and sure enough, both my brother and I got a call from someone at Kimball Genetics several days later who needed our doctors fax numbers, which we had forgotten to include on the paperwork. Once they had this information, a call to our doctors was all that was necessary to have our doctors forward the results directly to us by fax, and we also received the original reports by mail. Amazingly the Celiac Disease DNA Test at Kimball Genetics takes just one business day from the day the lab receives the sample (if it arrives by noon) to reporting of results.

    I have to admit that besides hoping that my son did not inherit the genetic makeup that makes celiac disease possible—as the results were printing out from my fax machine—I still held out the very slight hope that they had not found the markers in my genetic sample, and that my whole diagnosis was some sort of big mistake. This hope was quickly crushed as the report indicated that I was in fact part of an elite genetic group—one that carries both markers for celiac disease: DQ2 and DQ8—which I later discovered meant that I inherited genetic traits for celiac disease from both of my parents, rather than just from my mother, which was my original assumption. My father is no longer alive, but after discussing his results with my mother we decided that it is possible that he also had undiagnosed celiac disease, and it is interesting to note that he had diabetes.

    I couldnt help but think that my results make me something like a "Super Celiac," although the genetic counselor at Kimball Genetics reassured me that having both markers for it doesnt necessarily mean that the disease will present itself any differently. Spencer turned out to be positive for DQ2, and my brother found out that he too tested positive for both DQ2 and DQ8. On the down side their results indicate that they will need to watch out for any future signs of the disease for the rest of their lives, and probably get screened for it from time to time. On the up side there is still only a small chance that either will ever develop the disease, and at least we will know to watch for its symptoms in the future, which likely would lead to a quick diagnosis and treatment should one of them ever get it.

    Ultimately anyone who decides to undergo genetic screening must be comfortable with the results—positive or negative. I advocate testing because I believe in the saying that knowledge is power, and that it is better to know than not to know—especially when it comes to your health. Unlike other testing methods, genetic screening for celiac disease has the amazing potential to reveal whether someone has been misdiagnosed with the disease, even though the odds for such a scenario are small. It also can confirm a diagnosis, or let relatives of celiacs know that they do or dont need to worry about it in the future. My mother felt vindicated by our results, as they indicated that she wasnt the only person who passed celiac genes to her children—my father did too. Who knows, your genetic results may even have the potential to elevate your celiac status, as it did in my case, to that of—Super Celiac!



    User Feedback

    Recommended Comments

    I work for a hospital that offered complete genome testing for $100. Since my mom is adopted, I jumped at the opportunity. I didn't pay much attention to my increased risk for celiac in the results. I have always had stomach issues, as did my mom. Belly aches and diarrhea are "normal" for us. I recently had a terrible bout of gastric pain and my doctor did some routine blood work and ct scan that all showed normal results. I felt like some kind of hypochondriac, so I dropped the issue. Eventually, I got back to "normal." Some time later I was looking at my genetic test again and started looking into celiac disease. My doctor has pretty much ignored my requests to look into this. My mom has been diagnosed with IBS and she got type I diabetes from an autoimmune attack. One of my sons also exhibits the same "normal" GI problems as myself and my mom. I went to a different doctor to have blood tests for celiac, and I am still awaiting the results. I am almost hoping I have celiac because this could be the answer to my GI issues, my migraines, and my allergies, though I find the prospect of living without bread and pasta almost unimaginable.

     

    This is a good article. Thank you. If my results are +, I'll be spending a lot of time on your site.

    Link to comment
    Share on other sites


    Guest
    This is now closed for further comments

  • About Me

    Scott Adams

    Scott Adams was diagnosed with celiac disease in 1994, and, due to the nearly total lack of information available at that time, was forced to become an expert on the disease in order to recover. In 1995 he launched the site that later became Celiac.com to help as many people as possible with celiac disease get diagnosed so they can begin to live happy, healthy gluten-free lives.  He is co-author of the book Cereal Killers, and founder and publisher of the (formerly paper) newsletter Journal of Gluten Sensitivity. In 1998 he founded The Gluten-Free Mall which he sold in 2014. Celiac.com does not sell any products, and is 100% advertiser supported.


  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):





    Celiac.com Sponsors (A17-m):




  • Related Articles

    Scott Adams
    The following report comes to us from The Sprue-Nik Press, which is published by the Tri-County Celiac Sprue Support Group, a chapter of CSA/USA, Inc. serving southeastern Michigan (Volume 7, Number 6, September 1998).
    The degree of mucosal damage varies from one celiac patient to another. Also, the amount of the small intestine that is affected also varies, with the damage usually progressing from the beginning of the small intestine and then moving downward toward the end of the small intestine. This may explain the variable symptoms in different patients. For example, when a significant portion of the small intestine is involved, diarrhea, malabsorption, and weight loss result. When damage is isolated to only the top portion of the small intestine, the only affect may be iron deficiency. (Incidentally, when iron deficiency is not corrected by iron supplements, it is highly likely that celiac disease is the cause of the deficiency.)
    Gluten in a celiacs diet causes the immune system to produce gliadin antibodies in the intestine. Some of these leak into the bloodstream where they can be detected in blood tests. These blood tests are useful for screening for celiac disease, though a small intestinal biopsy remains the gold standard for diagnosing celiac disease (celiac disease).
    There are few diseases for which diet and nutritional issues are more important than for celiac disease. At this time, the only known treatment of celiac disease is the removal of wheat, barley, rye, and oats from the celiacs diet. On the surface this sounds simple, but complete removal of dietary gluten can be very difficult. Gluten-containing grains are ubiquitous in the Western diet. Also, grain-derived food additives such as partially hydrolyzed vegetable protein [and modified food starch] are widely used in processed foods and oral medications. Content labels are often vague or incomplete regarding these additives.
    What further complicates matters is a lack of significant experience on the part of physicians and dietitians in the dietary treatment of celiac disease. This is mainly because there are so few celiac patients for anyone practitioner. Therefore the best sources of dietary information for a new patient are other knowledgeable, more experienced celiacs.
    It is very important that the diet be followed with full and strict compliance. Celiacs, especially if theyve had active celiac disease for a longtime, are at higher than normal risk for GI malignancies.(Fortunately, compliance to a good gluten-free diet returns the risk of malignancy and life expectancy to that of the general population.)Another complication of long-term untreated celiac disease is bone loss, which maybe irreversible in older patients.
    When a large portion of the small intestine is affected by active celiac disease, the result can be a generalized malabsorption problem, resulting in deficiencies of water- and fat-soluble vitamins and minerals. Folic acid deficiency is particularly common in celiac disease because, like iron, it is absorbed in the upper small intestine [where the highest concentration of celiac-related damage generally occurs]. Folic acid is necessary for DNA replication, which occurs in cell turnover. So a deficiency of folic acid can impair the regenerative ability of the small intestine. Vitamin B12, also essential to DNA synthesis, is not malabsorbed as commonly as folic acid.
    Magnesium and calcium deficiency are also common in active celiac disease, because of decreased intestinal absorption AND because these minerals tend to bind with malabsorbed fat which passes through the system. It is particularly important for doctors to assess the magnesium status of celiacs, because without correction of a magnesium deficiency, low levels of calcium and potassium in the blood cannot usually be corrected with supplements. In severe cases, magnesium supplementation should be done intravenously because of the tendency of oral magnesium to cause diarrhea.
    Supplemental calcium generally should be provided to celiacs, possibly with vitamin D, to help restore tissue and bone calcium levels to normal. The exact dose of calcium is not known. Dr. Fine usually recommends 1500-2000 mg of elemental calcium per day, divided into two doses, for several years and sometimes indefinitely. [4], [5], [6]
    Zinc is another mineral that often becomes depleted in patients with chronic malabsorption. Zinc supplementation (usually the RDA via multi-vitamin and mineral supplements) helps avoid skin rashes and restores normal taste.
    Up to 20% of celiacs will continue to experience loose or watery stools even after going on a gluten-free diet. Sometimes this is due to inadvertent gluten in the diet, but a recent study at Dr. Fines medical center showed that in these cases other diseases epidemiologically associated with celiac disease are present.[7] These include microscopic colitis, exocrine pancreatic insufficiency, lactose intolerance, selective IgA deficiency, hypo- or hyperthyroidism, and Type I diabetes mellitus. When diarrhea continues after beginning a gluten-free diet, a search for these associated diseases or others should be undertaken and treated if found.
    The use of cortico steroids has been advocated in celiacs when the response to the gluten-free diet is sluggish or absent. This is necessary more often in older than in younger patients. However, pancreatic enzyme supplements (prescribed by a doctor) may be needed to help digestion and resolve ongoing malabsorption in some patients.
    The endomysial antibody blood test is highly accurate and specific for detecting celiac disease. However, the current method of detecting these antibodies involves an operator looking through a microscope and observing the antibody binding on monkey esophagus or human umbilical cord tissue substrates. The correct interpretation of results is highly dependent on the skill and experience of the technician interpreting the fluorescence pattern through the microscope. Moreover, determination of the amount of antibody present relies upon repeat examinations following dilutions of the blood serum, with the last positive test being reported as a titer.
    A new discovery was reported by a research group in Germany.[8] The antigen substrate of the endomysial antibodies has been identified. This allows the development of a new test that can detect and measure serum endomysial antibodies in one, chemically-based test run [thus greatly reducing the potential for human error and significantly reducing the time needed for each test--ed.] These new tests should be available for clinical use shortly.
    In a recent study, Dr. Fine found that the frequency of positive stool blood tests was greater in patients with total villous atrophy relative to partial villous atrophy, and all tests were negative in treated patients without villous atrophy.[9] This suggests that fecal occult blood may be a non-invasive and inexpensive method of following the response of the damaged intestine to treatment. Also, it should be noted that the high frequency of positive tests due to villous atrophy will decrease the accuracy of the tests when used for cancer screening in this same patient population (which is how these tests are normally used by health care providers).
    There have been two recent reports touting the lack of deleterious effects when 50 grams of oats per day are added to the diet of celiac patients. Although this finding is exciting for celiacs, both studies possess certain limitations. In the first study, published by a Finnish group, the exclusion criteria for symptoms and histopathology were somewhat strict, so that patients with more mild forms of celiac disease seemingly were selected for study. And though no damage to duodenal histology occurred after one year of oats consumption, no physiologic or immunologic parameters of disease activity were measured. Furthermore, several patients in the treatment group dropped out of the study for reasons not mentioned in the article.[10] The second and more recent study involved only 10 patients, studied for twelve weeks. The favorable results of this study must be interpreted with caution because of the small sample size and short study period.[11] Even the one-year treatment period in the Finnish study may be too short to observe a harmful effect, as it is known that small intestinal damage sometimes will not occur for several years following there introduction of gluten to a treated celiac. At the worst, an increase in the incidence of malignancy may result from chronic ingestion of oats, an effect that could take decades to manifest. Therefore, this issue will require further study before oats can be recommended for the celiac diet.

    3. From the September 1998 newsletter of the Houston Celiac-Sprue Support Group, a chapter of CSA/USA, Inc. 4. Ciacci C, Maurelli L, et el, Effects of dietary treatment on bone mineral density in adults with celiac disease; factors predicting response, Am J Gastroenterol, 1997; 92 (6): 992-996.

    5. Mautalen C, Gonzalez D, et al, Effect of treatment on bone mass, mineral metabolism, and body composition in untreated celiac patients, Am J Gastroenterol, 1997; 2 (2):313-318.

    6. Corazza gluten-free, Di Sario A, et al, Influence of pattern of clinical presentation and of gluten-free diet on bone mass and metabolism in adult coeliac disease, Bone, 1996; 18 (6):525-530.

    7. Fine, KD, Meyer RL, Lee EL, The prevalence and causes of chronic diarrhea in patients with celiac sprue treated with a gluten-free diet, Gastroenterol, 1997; 112 (6):1830-1838.

    8. Dieterich W, Ehnis T, et al, Identification of tissue transglutaminase as the autoantigen of celiac disease, Nat Med, 1997; 3 (7):797-801.

    9. Fine KD, The prevalence of occult gastrointestinal bleeding in celiac sprue, N Engl J Med, 1996; 334 (18):1163-1167.

    10. Janatuinen EK, Pikkarainen PH, et al, A comparison of diets with and without oats in adults with celiac disease, N Engl J Med, 1995; 333 (16):1033-1037.

    11. Srinivasan U, Leonard N, et al, Absence of oats toxicity in adult coeliac disease, BMJ, 1996; 313 (7068):1300-1301.


    Scott Adams
    The following is a list of causes of flattened villi which was published in a book titled Coeliac Disease by W. T. Cooke and G. K. Holmes, published by Churchill Livingstone, Medical Division of Longman Group Limited (1984). Celiacs on a gluten-free diet (for a prolonged period) who continue to have flatten villi may be want to look for other causes to their problem. Keep in mind that some of the items listed rarely cause flatened villi, and are usually found in conjunction with Celiac Disease or immuno-deficiencies.
    Coeliac Disease Cows Milk Protein Intolerance Soy Protein Intolerance Refractory Sprue Collagenous Sprue Immunodefiency Synodromes Mediterranean Lymphoma Intestinal Ulceration Gastroenteritis Intractable Diarrhoea of Infancy Protein Calorie Malnutrition Kwashiorkor Tropical Sprue Parasitic Disease: Giardiasis Strongyloidiasis Coccidiosis Intestinal Capillariasis Hookworm Disease Eosinophilic Gastroenteritis Contaminated Bowel Syndrome Drug and Radiation Damage


    Scott Adams
    Acta Paediatr Suppl 1996 May;412:47-48
    Martelossi S, Zanatta E, Del Santo E, Clarich P, Radovich P, Ventura A
    Istituto di Clinica Pediatrica, Istituto per lInfanzia IRCCS Trieste, Italy.
    Celiac.com 12/18/2002 - Specific dental enamel defects (DEDs) in permanent teeth are frequently observed in celiac patients. We examined the permanent teeth in 6,949 secondary school children living in Trieste (78% of 8,724 children born between 1978 and 1982). Children with DEDs were tested for serum antigliadin antibodies (AGAs) and antiendomysium antibodies (AEAs), and those positive for serum AGAs and/or AEAs underwent intestinal biopsy. Specific DEDs were observed in 52 children (0.59% of the total population examined). Serum AGAs and/or AEAs were positive in 10 cases. Nine patients underwent intestinal biopsy (one refused) and in four cases a flat mucosa was documented (one with short stature, three completely asymptomatic).
    The known incidence of celiac disease in the study area was 1:1,000 before the study program and 1:670 (an increase of 44%) after it. Dental enamel inspection may be utilized for detecting undiagnosed coeliac disease in symptom-free schoolchildren. This clinical test is probably less sensitive than serum AGA screening test, but deserves some consideration because it is cheap, easy to perform and well accepted by the population.
    PMID: 8783757, UI: 96377982


    Scott Adams
    Dig Dis Sci. 2004 Apr;49(4):546-50
    Celiac.com 08/27/2004 – Dr. Peter Green and colleagues at the Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, conducted a study designed to determine the sensitivity of the various serological tests used to diagnose celiac disease. To do this they looked at 115 adults with biopsy-proven celiac disease who fulfilled strict criteria which included serological testing at the time of their diagnosis, and a positive response to a gluten-free diet. Out of those studied, 71% had total villous atrophy, and 29% had partial villous atrophy. Serological results indicated that only 77% of those with total and 33% of those with partial villous atrophy actually tested positive for celiac disease, and it did not matter whether the patients presented with classical or silent symptoms. All patients who were positive for anti-tissue transglutaminase had total villous atrophy. The researchers conclude:


    Seronegative celiac disease occurs. Endomysial antibody positivity correlates with more severe villous atrophy and not mode of presentation of celiac disease. Serologic tests, in clinical practice, lack the sensitivity reported in the literature.


  • Popular Now

×
×
  • Create New...