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Celiac.com 06/06/2014 - Celiac disease guidelines suggest that some patients with high anti-tTG ab levels might be diagnosed without biopsy. A team of Indian researchers recently reviewed their celiac disease database to determine if anti-tissue transglutaminase (tTG) antibody (ab) titers correlate with severity of villous abnormalities in Indian patients, and to find out a cutoff value of anti-tTG ab fold-rise that might best predict celiac disease. The researchers included P. Singh, L. Kurray, A. Agnihotri, P. Das, A.K. Verma, V. Sreenivas, S. Datta Gupta, and G.K. Makharia. The are affiliated with the Departments of Gastroenterology and Human Nutrition, Pathology, and Biostatistics at the All India Institute of Medical Sciences in New Delhi, India. The team reviewed data on 366 anti-tTG ab-positive individuals who received duodenal biopsies. The team conducted anti-tTG ab screens before patients began a gluten-free diet, and they expressed anti-tTG ab results in terms of fold-rise by calculating ratio of observed values with cutoff value. Celiac disease was diagnosed only in patients with positive serology, villous atrophy greater than Marsh grade 2, and clear response to gluten-free diet. Average anti-tTG fold-rise in groups with Marsh grade ≤2 was 2.6 (±2.5), grade 3a was 4.0 (±3.9), 3b was 5.7 (±5.1), and 3c was 11.8 (±8.0). Overall positive likelihood ratio for diagnosing celiac disease was 15.4 and 27.4 at 12- and 14-fold-rise of anti-tTG ab titer, respectively. The positive predictive value of diagnosis of celiac disease was 100% when anti-tTG ab titer was 14-fold higher over the cutoff value. Fifty-seven (43.9%) patients with anti-tTG titer rise less than 2-fold also had celiac disease. Levels of anti-tTG rise directly with severity of villous abnormality. High anti-tTG ab titers indicate likely villous atrophy. Contrary to emerging wisdom, even patients with anti-tTG ab levels less than 2-times baseline should receive mucosal biopsies, because many patients with celiac disease have such low levels. Source: J Clin Gastroenterol. 2014 Feb 27.
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Dental Enamel Defects Indicate Adult Celiac Disease
Jefferson Adams posted an article in Latest Research
Celiac.com 08/23/2013 - Previous studies have noted the presence of dental enamel defects in people with celiac disease. A team of researchers recently set out to study the prevalence of dental enamel defects in adults with celiac disease, and to determine if there is in fact a connection between the grade of teeth lesion and clinical parameters present at the time of diagnosis of celiac disease. The research team included L.Trotta, F. Biagi, P.I. Bianchi, A. Marchese, C. Vattiato, D. Balduzzi, V. Collesano, and G.R. Corazza. They are affiliated with the Coeliac Centre/First Department of Internal Medicine at the Fondazione IRCCS Policlinico San Matteo at the University of Pavia in Italy. The team looked at 54 celiac disease patients who had undergone dental examination. The patients included 41 females and 13 males, with an average age of 37±13 years, and with an average age of 31±14years at the time of diagnosis. Symptoms leading to diagnosis were diarrhea/weight loss (32 pts.), anaemia (19 pts.), familiarity (3 pts.). None of the patients was diagnosed because of enamel defects. At the time of evaluation, all of the patients were following a gluten-free diet. The team classified enamel defects from grade 0 to 4 according to severity. They found dental enamel defects in 46 of the 54 patients (85.2%). They found grade 1 defects in 18 patients (33.3%), grade 2 defects in 16 patients (29.6%), grade 3 defects in 8 patients (14.8%), and grade 4 defects in 4 patients (7.4%). They also observed that grades 3 and 4 were more common in patients diagnosed with classical rather than non-classical coeliac disease (10/32 vs. 2/20). However, this was not statistically significant. From this study, the team concludes that enamel defects are common in adult celiac disease, and that the observation of enamel defects offers a way to diagnose celiac disease. Source: Eur J Intern Med. 2013 Apr 6. pii: S0953-6205(13)00091-5. doi: 10.1016/j.ejim.2013.03.007. [Epub ahead of print] -
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 Spencer's 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 family's 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: Indications for Celiac Disease DNA Testing: Clinical diagnosis of celiac disease. Negative or equivocal antibody results (anti-endomysial, 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 couldn't 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 doesn't 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 don't need to worry about it in the future. My mother felt vindicated by our results, as they indicated that she wasn't 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!
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Celiac.com 06/25/2003 - The following is an abstract of a recent study published in the June edition of the Journal of Association of Physicians of India by Dr. Y.A. Gokhale and colleagues from the Lokmanya Tilak Medical College and General Hospital, Mumbai (Bombay). The researchers conclude that symptomatic osteoporotic patients, especially those with associated anemia, who are younger than 55 years of age should be screened for celiac disease. Here is the abstract: Celiac Disease in Osteoporotic Indians YA Gokhale, PD Sawant, CM Chodankar, ND Desai, MV Patil, S Maroli, MN Patil, NK Hase J Assoc Physicians India June 2003;51:579-584 Abstract: Objective: The aim of the study was to identify the atypical celiac disease (celiac disease) in a cohort of symptomatic osteoporotic patients, younger than 55 years of age and 2) To study associated clinical and laboratory features and outcome with gluten-free diet. Material and Methods: We studied 33 patients (F:M =28:5),mean age 29 years (range 15-52 years) with osteoporosis (WHO diagnostic criteria, T-score less than -2.5 on DEXA scan) from January 2000-June 2002. Serological screening for celiac disease was done by detecting circulating IgA antibodies to tissue transglutaminase by ELISA. Patients with presence of antibodies to transglutaminase were subjected to biopsy from the 2nd part of the duodenum by upper GI endoscopy. The biopsies were reported independently by two pathologists who were blinded for the serology report. Measurement of mucosal thickness, crypts and villi were done with an ocular micrometer. Other parameters like complete hemogram, serum iron, total iron binding capacity (TIBC),calcium profile,25-OH-D, parathyroid hormone (PTH) were evaluated. Assessment of clinical and laboratory parameters was performed within 4-12 weeks of starting gluten-free diet (GFD). Results: Thirteen patients had circulating IgA antibodies to transglutaminase. Intestinal biopsies were performed on 11 patients and were consistent with the diagnosis of celiac disease (total villous atrophy -two, subtotal villous atrophy with crypt hyperplasia -nine). Patients with celiac disease had significant anemia when compared with non-celiac disease osteoporotic patients. Other important observations in these 11 patients were low serum calcium and phosphorus, low 25-OH-D, high PTH. Significant improvement in clinical and laboratory parameters was noted in all patients within 6-12 weeks of starting GFD. Conclusion: Symptomatic osteoporotic patients (younger than 55 years of age) especially with associated anemia should be investigated for celiac disease. Simple measures like omission of wheat from diet (GFD) lead to significant improvement in symptoms within weeks.
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