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Celiac.com 10/12/2023 - Celiac disease is a chronic, inflammatory disease triggered by the consumption of gluten-containing foods. Early diagnosis and proper management with a gluten-free diet can reduce its impact on patients' quality of life. People with a family history of celiac disease are at a higher risk, making it crucial to actively identify cases within this group. A new study conducted by a team of researchers in Australia offers new insight into rates of celiac disease, particularly among first-degree relatives of individuals with the condition. The research team included Richard Muir, Anuj Sehgal, Jason A Tye‐Din and A James M Daveson. They are variously affiliated with The Wesley Hospital, Brisbane, QLD; St Andrew's War Memorial Hospital, Brisbane, QLD; the Wesley Research Institute, Brisbane, QLD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC; The Royal Melbourne Hospital, Melbourne, VIC; and The University of Queensland, Brisbane, QLD. Celiac Disease Affects Approximately 1.4% of People Globally Their research found that celiac disease affects approximately 1.4% of both the global and Australian populations. The study, conducted at the Wesley Research Institute in Brisbane, targeted first-degree relatives of individuals already diagnosed with celiac disease. These relatives were invited to participate in the research, and the study involved genetic testing for celiac disease risk alleles (HLA‐DQ2/8/7 polymerase chain reaction genotyping) and serological tests to detect specific antibodies related to celiac disease. Key findings from the study include: High Celiac Disease Susceptibility Among the participants, 86% had celiac disease susceptibility haplotypes, with 50% of children and 53% of adults carrying high-risk celiac-associated genotypes. Serology Results Sixteen individuals with susceptibility haplotypes tested positive for serological markers associated with celiac disease. Biopsy Confirmation Small bowel biopsies were performed on individuals with positive serological results, confirming celiac disease in seven children and two adults who had high-risk alleles. Celiac Disease Prevalence Among Child First-Degree Relatives Between 11% and 14% Among child first-degree relatives, the estimated rates of celiac disease was 11%, rising to 14% among those with celiac disease susceptibility haplotypes. In contrast, only 1.4% of adult first-degree relatives were confirmed to have celiac disease. These findings highlight the importance of active case finding, especially among first-degree relatives of individuals diagnosed with celiac disease. Such screening can lead to early diagnosis and timely intervention, improving the quality of life and health for celiacs. However, the study also acknowledges limitations, including the fact that not all individuals with positive serological results underwent small bowel biopsies. Additionally, the research was conducted at a single center, and a non-first-degree relatives group was not included for comparison. Overall, the study's results support international guidelines recommending active case finding among first-degree relatives of individuals with celiac disease. Read more in The Medical Journal Of Australia -
Celiac.com 11/28/2022 - First-degree relatives of people with celiac disease have much higher celiac disease rates than the general population, but there isn't much data on the clinical characteristics of the relatives as a group. To get a better idea of the exact level of risk, a team of Canadian researchers recently carried out a retrospective review of patients who visited a pediatric celiac disease clinic. The researchers conducted a retrospective review of 227 patients (144 girls and 83 boys) who were diagnosed with biopsy-proven celiac disease between 1996 and 2014, with an average age of 8 years old at diagnosis. All patients were screened using tissue transglutaminase (tTG-IgA) tests with normal IgA immunoglobulin level for their age. Out of the 227 celiac patients, 49 (21.6%) were initially screened because a first-degree relative had celiac disease, and out of this group 24 (49%) were symptomatic, while 25 (51%) were asymptomatic. The 49 first-degree relatives had equally severe Marsh biopsy scores whether they were symptomatic or asymptomatic, and compared to the 178 patients who were screened for other reasons 149 (83.7%) were symptomatic, and 29 (16.3%) were asymptomatic. Interestingly their was no significant difference between the different patient groups' biopsy Marsh scores or tTG-IgA levels at screening. According to the researchers: "Although 51% of patients screened due to an affected first-degree relative were asymptomatic, their disease histology was as severe as those screened for symptoms suggestive of celiac disease. These findings support current recommendations to screen all first-degree relatives of patients with celiac disease regardless of clinical symptoms." The findings support current recommendations to screen all first-degree relatives of patients with celiac disease, even in the absence of clinical symptoms. If you have an unscreened first-degree relative, a mother, father, brother, sister, son or daughter, it's a good idea for them to get screened, especially if they have symptoms, but even if they don't, as "silent " celiac disease can be an issue for many of these folks. Read more in the Journal of Pediatric Gastroenterology and Nutrition and at medscape.com. The research team included Michelle J Gould; Jenna Dowhaniuk; Jorge Arredondo; Paul Azzopardi; Tina Hu; Heather Mileski; Andrea Carpenter; Nikhil Pai; and Herbert Brill. They are variously affiliated with the Department of Paediatrics, University of Toronto, Toronto, ON, Canada; the Division of Gastroenterology and Nutrition, Department of Paediatrics, McMaster University, Hamilton, ON, Canada; the Department of Pathology, McMaster University, Hamilton, ON, Canada; the Faculty of Health Sciences, McMaster University, Hamilton, ON, Canada; the Department of Medicine, University of Toronto, Toronto, ON, Canada; The Hospital for Sick Children, Toronto, ON, Canada; the Farncombe Family Digestive Health Research Institute, McMaster University, Hamilton, Canada; the Department of Pediatrics, William Osler Health System, Brampton, ON, Canada; and McMaster Children’s Hospital, Hamilton, ON, Canada. -
Celiac.com 06/20/2022 - Doctors currently recommend that first-degree relatives of those with celiac disease also get screened for the disease, but it's been unclear how often doctors should screen, or at what age. A team of researchers recently set out to detect variables influencing the risk of celiac disease development so they can develop and validate clinical prediction models in order to provide individualized screening advice. The research team included Caroline R. Meijer; Renata Auricchio; Hein Putter; Gemma Castillejo; Paula Crespo; Judit Gyimesi; Corina Hartman; Sanja Kolacek; Sibylle Koletzko; Ilma Korponay-Szabo; Eva Martinez Ojinaga; Isabel Polanco; Carmen Ribes-Koninckx; Raanan Shamir; Hania Szajewska; Riccardo Troncone; Vincenzo Villanacci; Katharina Werkstetter; and M. Luisa Mearin. The team analyzed ten years of follow-up data from the PreventCD-birth cohort, which enrolled nearly a thousand genetically predisposed children with celiac-affected first-degree relatives. The researchers combined significant variables for celiac risk to establish a risk score, and performed landmark analyses at different ages to create prediction models using multivariable Cox proportional hazards regression analyses, backward elimination, and Harrell’s c-index for discrimination. They used data from the independent NeoCel cohort to validate their findings. Their results show that the children with celiac-affected first-degree relatives develop celiac disease early in life, and that the main risk factors are gender, age and HLA-DQ genetic markers, which are all important for sound screening advice. According to the researchers children with celiac-affected first-degree relatives should be screened early in life, which should also include HLA-DQ2/8–typing. Anyone genetically predisposed to celiac disease should get more personalized screening advice using the team's Prediction application. Read more in Gastroenterology-
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Celiac.com 10/18/2021 - Researchers and clinicians have promoted family screening as a way to reduce the significant under-diagnosis of celiac disease. However, good data for calculating the exact risk of the disease in relatives, and the effects of individual patient- and relative-related factors, remains scarce. A team of researchers recently set out to investigate the individual risk of celiac disease among relatives of celiac patients. The research team included Saana Paavola, Katri Lindfors, Laura Kivelä, Juliana Cerqueira, Heini Huhtala, Päivi Saavalainen, Riku Tauschi, Katri Kaukinen, and Kalle Kurppa. They are variously affiliated with the Faculty of Medicine and Health Technology at the University of Tampere and Tampere University Hospital in Tampere, Finland; the Faculty of Social Sciences at the University of Tampere in Tampere, Finland; the Translational Immunology Research Program, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; and the University Consortium of Seinäjoki, Seinäjoki, Finland. The team assessed nearly three-thousand relatives of 624 index patients for evidence of prior celiac disease, or else screened for the disease. For each subject, the team was able to determine the celiac-associated human leucocyte antigen (HLA) genotype. They then used logistic regression to assess the connection between individual factors and new screening positivity. They found 229 previously diagnosed non-index relatives with celiac disease and 2,714 non-affected (2,067 first-degree, 647 more distant) relatives. Of these 2,714 relatives, 129 (nearly 5%) screened positive, with 5.1% of first-degree, 3.6% of second-degree, and 3.5% of more distant relatives. The combined rate of the previously diagnosed and now detected cases in relatives was just over 12%, and was evenly divided at about 6% for both clinically detected and screen-detected. Univariate analysis showed the main risk factors associated with screening positivity to be: under age 18 years at diagnosis, age 41–60 years, being a sibling, and having the high-risk genotype (3.22, 2.01–5.15 DQ2.5/2.5 or DQ2.5/2.2 vs other risk alleles) in relatives. Multivariable analysis showed that only high-risk HLA remained significant. From this study, the team concludes that unrecognized celiac disease is common for at-risk relatives, and also in relatives beyond first-degree, even where active case-finding prevails. By far, the most important predictor for screening positivity was the presence of the high-risk HLA genotype: 3.22, 2.01–5.15 DQ2.5/2.5 or DQ2.5/2.2. Read more in Aliment Pharmacol Ther. 2021;54(6):805-813. -
Celiac.com 04/27/2020 - Recent studies on celiac disease have reported changes in the gut microbiome. Researchers don't currently know if the change in the microbial makeup is the cause or a result of the disease, especially in cases of adult onset celiac disease. A team of researchers recently set out to compare of small gut and whole gut microbiota of first-degree relatives with adult celiac disease patients and controls. The research team included Rahul Bodkhe, Sudarshan A. Shetty, Dhiraj P. Dhotre, Anil K. Verma, Khushbo Bhatia, Asha Mishra, Gurvinder Kaur, Pranav Pande, Dhinoth K. Bangarusamy, Beena P. Santosh, Rajadurai C. Perumal, Vineet Ahuja, Yogesh S. Shouche, and Govind K. Makharia. They are variously affiliated with the National Centre for Microbial Resource, National Centre for Cell Science, Pune, India; the Department of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India; the Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, New Delhi, India; and AgriGenome Labs Pvt. Ltd., Kerala, India. First-degree relatives of celiac patients might offer researchers a chance to study gut microbiome in pre-disease state, since they are genetically prone toward celiac disease. 16S rRNA gene sequencing showed that ecosystem diversity was similar for the disease condition in celiacs, the pre-disease condition in first-degree relatives, and for control subjects. They did note differences in levels of amplicon sequence variant (ASV), indicating changes in specific ASVs between pre-disease and diseased condition. Duodenal biopsies showed greater differences in ASVs compared to fecal samples, which suggests more widespread disturbance to the microbiota in the diseased area. The duodenal microbiota of first-degree relatives was marked by large quantities of ASVs of the genera Parvimonas, Granulicatella, Gemella, Bifidobacterium, Anaerostipes, and Actinomyces. The duodenal microbiota of people with celiac disease contained more ASVs from genera Megasphaera and Helicobacter compared to the microbiota of first-degree relatives. Compared to control group microbiota, the fecal microbiota of both celiacs and first-degree relatives had lower amounts of ASVs classified as Akkermansia and Dorea. Moreover, functional metagenome projections showed reduced gluten degradation by celiac fecal microbiota as compared with first-degree relatives and control subjects. The data show clear differences in ASVs and suggests that celiac fecal microbiota have an impair ability to break down gluten compared to the fecal microbiota of first-degree relatives. More research is needed to examine strain levels and active functional microbiota profiles, in celiacs and first-degree relatives, in order to clarify role of gut microbiome in celiac disease development. Read more in Frontiers of Microbiology, 08 February 2019 -
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Celiac.com 10/21/2019 - Parents, siblings and children of people with celiac disease are not only more likely to develop the autoimmune disease, they are more likely to develop a "silent" version, which presents few or no obvious symptoms, according to the results of a recent study. Because of this, Mayo Clinic researchers are now recommending that these first-degree relatives of celiac patients undergo celiac screening. Celiac disease is an autoimmune condition that causes gut damage when those affected consume gluten, a protein in wheat, barley and rye. A strict gluten-free diet is currently the only treatment for celiac disease. The study of celiac patients and their families showed that nearly half of close relatives who received celiac blood tests were later diagnosed with the condition. Nearly all of them had atypical symptoms or no symptoms at all. These results are startling, as are the recommendations to test people who show no symptoms, just based on their close relation to known celiac patients. That's unusual, because researchers usually keep their screening efforts restricted to those who show symptoms. Current guidelines call for testing family members when children are diagnosed with celiac disease, but, until now, when adults are diagnosed, called for testing only those close relatives who show symptoms. However, the study shows a clear likelihood of celiac risk in close relatives, which led to the Mayo Clinic's recommendation to extend testing to all close family members of known celiac patients. It's important to diagnosed celiac disease as quickly as possible. Untreated celiac disease patients face an elevated risk of developing other conditions like nutritional deficiencies, anemia, osteoporosis and even lymphoma. This is really huge news, as it means that large numbers of people likely have celiac disease without even knowing it. So, if you or your loved ones know anyone with celiac disease, pass along this information. Their immediate family members should probably get screened for celiac disease. Hopefully, this study and will trigger more like it, and increase testing of asymptomatic people who are at high risk for undiagnosed celiac disease. Read more in the Mayo Clinic Proceedings, online August 22, 2019, and at Reuters.com- 1 comment
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Celiac.com 09/02/2019 - A team of researchers recently set out to investigate rates of first-degree relatives (FDRs) with celiac disease detected at screening, and the diagnostic significance of anti-tissue transglutaminase (anti-TTG). The research team included Shilpa S. Nellikkal, MBBS, Yamen Hafed, MD, Joseph J. Larson, BS, Joseph A. Murray, MD, and Imad Absah, MD. They are variously affiliated with the the Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota; the Division of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota; and the Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota. Using data from the Mayo Clinic going back to 1983, the team conducted a retrospective study on a group of 104 patients diagnosed with celiac disease and their first-degree relatives. The data included demographics, original symptoms, reasons for testing, family history, number of other family members screened, biopsy reports, and results of serologic tests. The team screened 360 out of a total of 477 first-degree relatives, finding a total of 160 first-degree relatives who were diagnosed with celiac disease, 62% of whom were female. All diagnosed first-degree relatives had positive anti-TTG titers. They found clinical features in 148 diagnosed first-degree relatives. Just nine of those diagnosed first-degree relatives had classic symptoms, 97 showed non-classic symptoms, and 42 showed no symptoms. Histology reports from 155 first-degree relatives showed 12 with Marsh 1, 77 with Marsh 3a, and 66 with Marsh 3b. The team used levels of anti-TTG greater than or equal to 2.75 of the upper limit of normal to spot first-degree relatives with villous atrophy with 87% sensitivity, 82% specificity, and a positive predictive value of 95%. This study of diagnosed celiac patients showed high rates of celiac disease among screened first-degree relatives. Small bowel biopsies revealed that high anti-TTG titers were associated with villous atrophy, irrespective of symptoms. Read more at Mayoclinicproceedings.org.- 11 comments
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A Love Note to the Partners of a Celiac Sufferer
Kelly Carter posted an article in Summer 2019 Issue
Celiac.com 07/22/2019 - I was thinking...the significant others of someone with celiac put up with a lot. They endure the constant discussions at every social gathering about celiac disease. New social contacts mean an explanation of why we can't come to your house for dinner without a 20 minute conversation about bringing our own food. It means the camaraderie of a pitcher of beer is ruined by our need to order cider or a glass of wine. It means that the well-intentioned friend at a pot luck brought something gluten free, but we can't eat it because we don't know how it was prepared. They cannot make dinner reservations at a new place without first a 20 minute review of the menu, then a 5 minute grilling of the wait staff, only to watch helplessly as we endure the results of the inevitable cross contamination. They hold our hair back, bring us the heating pad to put on our sore stomachs, and deliver emergency toilet paper for each request in the bathroom. Just not in the mood—really means, I want to but I was sick all day and don't want anyone in that general area. And sometimes it means, everything hurts, so I just don't want anyone to touch me. Travelling with us requires hours of planning where to stop to ensure we have a safe place to eat, then later speeding to the next exit to find a restroom in sometimes questionable gas stations. And then standing outside the bathroom at those questionable gas stations to ensure our safety. They also go gluten free in the house to make sure we have a safe place to live. They brush their teeth after their beer but before kissing us. They understand that paying for a gluten free loaf of bread that is half the size of normal bread and three times the cost shows us love. They check every label when going to the grocery store for us, just to make sure they buy the right stuff. Our partners often put themselves in awkward social situations, endure financial burdens, and put themselves in sometimes dangerous places to protect us. Celiac disease affects them is obvious ways and many that we may not see. They do all of this out of love for their partner. And your partner may not do any of those things or maybe all of them or maybe just a few—they love and support you. And if they don't, dump them! The bottom line is that we should appreciate those that choose to spend their time with someone with Celiac. We didn’t make a choice to have this disease, but every day they choose to be with us. So, thank you from the bottom of our hearts for all the love and support.- 17 comments
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Celiac.com 11/18/2015 - Researchers have known for some time that first-degree relatives (FDRs) of celiac patients are at high risk for developing the disease, and that prevalence among them varies from 1.6 to 38%. However, not much is known about specific risk levels when the FDR is sister, brother, mother, father, son, or daughter of a celiac patient. A team of researchers recently conducted a meta-analysis and calculated pooled prevalence of celiac disease among FDRs, second-degree relatives (SDRs), and specific relations with given celiac patients. The research team included P. Singh, S. Arora, S. Lal, T.A. Strand, G.K. Makharia. They are variously affiliated with the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA; Max Healthcare, Gurgaon, India; Medical Services Division, Innlandet Hospital Trust, Lillehammer, Norway; and the Department of Gastroenterology and Human Nutrition at the All India Institute of Medical Sciences, New Delhi, India. The team searched 2,259 related medical articles, and found 54 articles relevant for their meta-analysis. They defined celiac disease diagnosis using standard biopsy and Marsh criteria. Analysis of their data group showed an overall celiac disease prevalence of 7.5% (95% confidence interval (CI) 6.3%, 8.8%) in 10,252 FDRs and 2.3% (95% CI 1.3%, 3.8%) in 642 SDRs. Pooled celiac disease rates were highest in siblings, at 8.9%, followed by offspring, at 7.9%, and parents, at 3.0%. A total of 8.4% of female FDRs showed rates of celiac disease compared to 5.2% male FDRs (P=0.047). Sisters and daughters of a primary patient had the highest risk of having celiac disease, at 1 in 7 and 1 in 8, respectively), compared to a risk of 1 in 13 in sons, 1 in 16 in brothers, 1 in 32 in mothers, and 1 in 33 in fathers. The data also revealed differences in the pooled prevalence of celiac disease in FDRs according to their geographic location. Average pooled rates of celiac disease among FDRs is 7.5%, but the actual rate for a given individual varies widely based on their relationship with the primary celiac patient, and is also influenced by gender and geographical location. Source: Am J Gastroenterol. 2015 Sep 29. doi: 10.1038/ajg.2015.296.
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Celiac.com 07/27/2015 - First-degree relatives of individuals with celiac disease are at increased risk for this disorder, but little is known about their risk for other autoimmune diseases. A research team recently set out to assess the risk of non-celiac autoimmune disease in first-degree relatives and spouses of people with celiac disease. The research team included Louise Emilsson, Cisca Wijmenga, Joseph A. Murray, and Jonas F. Ludvigsson. They are variously affiliated with the Primary Care Research Unit, Vårdcentralen Värmlands Nysäter, Värmland County, Sweden, the Department of Health Management and Health Economy, Institute of Health and Society, University of Oslo, Oslo, Norway, the Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands, the Division of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden, and with the Department of Pediatrics, Örebro University Hospital, Örebro, Sweden. The team found individuals with celiac disease by searching computerized duodenal and jejunal biopsies, collected from 1969 through 2008, at 28 pathology departments in Sweden. The team found 29,096 patients with celiac disease based on biopsy reports of villous atrophy of Marsh grade 3 or higher and matched individuals with celiac disease with up to 5 of 144,522 non-celiac control patients based on sex, age, county, and calendar year. Through Swedish health care registries, the team identified all first-degree relatives (fathers, mothers, siblings, and offspring) and spouses of 84,648 individuals with celiac disease, and 430,942 control subjects. The team used Cox regression analysis to calculate hazard ratios (HRs) for non-celiac autoimmune disease, such as Crohn’s disease, type 1 diabetes mellitus, hypothyroidism, hyperthyroidism, psoriasis, rheumatoid arthritis, sarcoidosis, systemic lupus erythematosus, or ulcerative colitis, within these groups. Cox analysis showed that during the follow-up period averaging just under 11 years, nearly 3333, or 4%, of the first-degree relatives of patients with celiac disease, and 12,860 relatives of controls (3.0%), had an autoimmune disease other than celiac disease. First-degree relatives of people with celiac disease had an increased risk of non-celiac autoimmune disease, compared with controls (HR, 1.28; 95% confidence interval, 1.23–1.33), as did spouses (HR, 1.20; 95% confidence interval, 1.06–1.35). Risk estimates for non-celiac autoimmune disease did not differ between first-degree relatives and spouses of individuals with celiac disease (interaction test: P = .11). Hazard Ratios for non-celiac autoimmune disease were highest in the first 2 years of follow-up evaluation. First-degree relatives and spouses of individuals with celiac disease have a significantly higher risk of non-celiac autoimmune disease. In addition to genetic factors, environmental factors and better awareness, testing and diagnosis might influence rates of autoimmune disorders in first-degree relatives of individuals with celiac disease. Source: Clinical Gastroenterology and Hepatology. DOI: http://dx.doi.org/10.1016/j.cgh.2015.01.026
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Dig Dis Sci 1999;44:2344-2349. Celiac.com 04/10/2000 - Dr. Carme Farre, of Hospital Sant Joan de Deu, in Barcelona, Spain, and his multi-center colleagues, report in the November issue of Digestive Diseases and Sciences that both serologic markers and the human lymphocyte antigen class II extended DQ2 (HLA-DQ2) haplotype are useful markers for screening first-degree relatives of patients with celiac disease for the disorder. These markers are more reliable predictors of celiac disease than other clinical features, which are absent from one third of relatives of people with celiac disease. The researchers examined the usefulness of serologic markers, HLA-DQ2 haplotype, and clinical features common to celiac disease in the diagnosis of the disorder in 675 first-degree relatives of celiac disease patients. The diagnosis was confirmed by intestinal biopsy. Their results showed that 5.5% of the subjects were diagnosed with celiac disease, which is significantly higher than what was observed in the general public in a previous study. Serum IgA-class anti-endomysium antibodies (IgA-AEA) and IgA-class anti-gliadin antibodies (IgA-AGA) were observed in 5.8% and 1.9% of the relatives, respectively. According to the researchers: Our results show that IgA-AEA is the most useful marker, since all but one IgA-AEA-positive relative showed histological findings of [celiac disease]. Further, the measurement of IgA-AGA would have missed 66% of the affected relatives. The researchers also concluded that the HLA-DQ2 haplotype also appeared to be a more useful indicator to determine which first-degree relatives had an increased genetic susceptibility to celiac disease, because the marker was detected in 93% of first-degree relatives found to have celiac disease, and 18% of those without it. The four most common clinical symptoms for celiac disease, diarrhea, anemia, food intolerance and growth retardation, were not found in one third of the relatives of patients with celiac disease. The researchers conclude: Although the definitive diagnosis of [celiac disease] relies upon the intestinal biopsy, it should be preceded by a noninvasive, inexpensive and easy-to-perform screening technique. Their findings indicate that using blood serum IgA-AEA measurements is a useful screening tool for noninvasive screening, and HLA-DQ2 assessment may delineate a very high risk population with a particular genetic susceptibility to [celiac disease].
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Celiac.com 03/03/2014 - Spotting celiac disease early is important for optimal patient outcome. However, serological markers of celiac disease aren't much good for spotting mild histopathological lesions in adults at risk for celiac. A team of researchers recently set out to assess the usefulness of human leukocyte antigen (HLA)-DQ2/8 genotyping, followed by duodenal biopsy for the detection of celiac disease in adult first-degree relatives (FDRs) of patients with celiac disease. The research team included L. Vaquero, A. Caminero, A. Nuñez, M. Hernando, C. Iglesias, J. Casqueiro, and S. Vivas. They are variously affiliated with the Gastroenterology Unit, the Pathology Department, and the Pediatric Department of the University Hospital of León, Altos de Nava, with the Institute of Molecular Biology (INBIOMIC), the Microbiology Department and the Institute of Biomedicine (IBIOMED) at the University of León, all in León, Spain. For their study, the team looked at ninety-two adult DQ2/8 positive FDRs. They offered duodenal biopsy irrespective of the serology result or associated symptoms. They then noted clinical features, associated autoimmune diseases and biochemical parameters. The team conducted duodenal biopsies on sixty-seven FDRs, averaging 34 years of age. Thirty-two of those patients (48%) showed histopathological changes, which broke down as follows: twelve patients Marsh I (18%), one Marsh II (1.5%), four Marsh IIIA (6%), five Marsh IIIB (7.5%) and ten Marsh IIIC (15%). Seventeen of the sixty-seven patients (25%) showed positive serological markers, with only one showing Marsh I and the remainder presenting some degree of duodenal atrophy (Marsh III). Thirty-three of the sixty-seven patients (54%) suffered gastrointestinal symptoms, with dyspepsia being the most common complaint. The distribution of symptoms, anaemia and autoimmune disease was not changed by a patient's duodenal histopathological stage. Overall, in first-degree relatives, current blood-based screening would diagnose 50% of the cases that displayed any celiac disease characteristic, and miss 6% of the cases with mucosal atrophy. From these results, the team concludes that adult first-degree relatives of patients with celiac disease can benefit from a screening strategy on the basis of HLA-DQ genotyping, followed by a duodenal biopsy. FDRs with gastrointestinal and other symptoms may see improvement on a gluten-free diet. Source: Eur J Gastroenterol Hepatol. 2014 Mar;26(3):263-7. doi: 10.1097/MEG.0000000000000020.
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Scand J Gastroenterol. 2003 Jul;38(7):727-31. Effectiveness of the sorbitol H2 breath test in detecting histological damage among relatives of coeliacs. Tursi A, Brandimarte G, Giorgetti GM, Inchingolo celiac disease. Dept. of Emergency, L. Bonomo Hospital, Andria (BA), Italy. Celiac.com 08/07/2003 - An Italian study conducted by Dr. L. Bonomo and colleagues and published in the July 2003 edition of Scandinavian Journal of Gastroenterology concludes that A significant proportion of coeliacs may be missed if relatives are screened by serology only, while the efficacy of sorbitol H2-BT in screening relatives is confirmed. This study confirms that neither a breath test nor serology can replace intestinal biopsy, which remains the gold standard for the diagnosis of celiac disease, thus confirming the continued importance of performing biopsies for diagnosing celiac disease. The studys goal was to determine the diagnostic capabilities of serological tests (antigliadin (AGA), antiendomysium (EMA) and anti-tissue transglutaminase (anti-tTG)) and sorbitol H2 breath test (H2-BT) in the detection of celiac disease in first-degree relatives. The study screened 111 first-degree relatives of 37 celiac families using both test methods to determine candidates for small bowel biopsy. First-degree relatives with abnormal test results underwent a small bowel biopsy, as did those with negative serological and H2 breath test results who had clinical complaints or suspected that they may have celiac disease. The biopsy results were expressed using the Marsh classification system, and celiac disease was diagnosed in 49 of the 111 screened relatives of celiacs, or in 44.14%. A breakdown of the results is as follows: 5 showed Marsh IIIc, 8 Marsh IIIb, 16 Marsh IIIa, 13 Marsh II and 7 Marsh I lesions. 19 relatives showed the classical form of celiac disease, 20 showed the sub-clinical form, and 10 showed the silent form. The serological test results indicated an overall positivity of only 36.73%, with strong positive results only in those with severe intestinal damage and Marsh IIIb-c lesions. The sorbitol H2-BT breath test results showed an overall positivity of 83.67%, and showed strong positivity in patients with slight histological damage (Marsh I-IIIa).
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Scand J Gastroenterol. 2003 Jul;38(7):727-31. Effectiveness of the sorbitol H2 breath test in detecting histological damage among relatives of coeliacs. Tursi A, Brandimarte G, Giorgetti GM, Inchingolo celiac disease. Dept. of Emergency, L. Bonomo Hospital, Andria (BA), Italy. Celiac.com 08/07/2003 - An Italian study conducted by Dr. L. Bonomo and colleagues and published in the July 2003 edition of Scandinavian Journal of Gastroenterology concludes that A significant proportion of coeliacs may be missed if relatives are screened by serology only, while the efficacy of sorbitol H2-BT in screening relatives is confirmed. This study confirms that neither a breath test nor serology can replace intestinal biopsy, which remains the gold standard for the diagnosis of celiac disease, thus confirming the continued importance of performing biopsies for diagnosing celiac disease. The studys goal was to determine the diagnostic capabilities of serological tests (antigliadin (AGA), antiendomysium (EMA) and anti-tissue transglutaminase (anti-tTG)) and sorbitol H2 breath test (H2-BT) in the detection of celiac disease in first-degree relatives. The study screened 111 first-degree relatives of 37 celiac families using both test methods to determine candidates for small-bowel biopsy. First-degree relatives with abnormal test results underwent a small-bowel biopsy, as did those with negative serological and H2 breath test results who had clinical complaints or suspected that they may have celiac disease. The biopsy results were expressed using the Marsh classification system, and celiac disease was diagnosed in 49 of the 111 screened relatives of celiacs, or in 44.14%. A breakdown of the results is as follows: 5 showed Marsh IIIc, 8 Marsh IIIb, 16 Marsh IIIa, 13 Marsh II and 7 Marsh I lesions. 19 relatives showed the classical form of celiac disease, 20 showed the sub-clinical form, and 10 showed the silent form. The serological test results indicated an overall positivity of only 36.73%, with strong positive results only in those with severe intestinal damage and Marsh IIIb-c lesions. The sorbitol H2-BT breath test results showed an overall positivity of 83.67%, and showed strong positivity in patients with slight histological damage (Marsh I-IIIa).
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Am J Gastroenterol. 2003 Feb;98(2):377-81 Celiac.com 07/31/2003 - The findings of this new study are very significant for families of those with celiac disease. The results indicate that 17% of those related to two celiac disease-diagnosed siblings will also have the disease. Past studies have shown that around 10% of first-degree relatives of celiacs also have it, but this study is unique as it focuses on the increased risk for families where two siblings have the disease. This study further emphasizes the conclusions of past studies: If you have a relative with celiac disease--get tested, especially if it is a first-degree relative. - Scott Adams Abstract: "Prevalence of celiac disease among relatives of sib pairs with celiac disease in U.S. families Am J Gastroenterol. 2003 Feb;98(2):377-81 Book L, Zone JJ, Neuhausen SL. Division of Pediatric Gastroenterology and Nutrition, Department of PediatricsUniversity of Utah, Salt Lake City, USA. OBJECTIVE: Celiac disease is a familial malabsorptive disorder with an estimated prevalence in first-degree relatives of 10-12%. The prevalence for first-degree and more distant relatives has not been determined in families where there are two affected first-degree relatives. The aim of our investigation was to estimate the prevalence and relative risk for celiac disease in relatives of two siblings diagnosed with celiac disease. METHODS: We ascertained sib pairs with celiac disease, and then identified all living first-degree relatives and available second-degree relatives to minimize ascertainment bias. We measured IgA endomysial antibodies, a highly specific and sensitive assay for celiac disease, in all subjects without a confirmed biopsy diagnosis. For those individuals with positive serologic tests, IgA tissue transglutaminase antibody tests and human leukocyte antigen DQA1 and DQB1 genotyping were performed for additional confirmation. Individuals with positive biopsy and/or serology were considered affected. We calculated the relative risk of being affected with celiac disease using the lambda® statistic. RESULTS: The prevalence of celiac disease in relatives of affected sib pairs was as follows: 21.3% (13/61) of siblings (lambda(S) = 53); 14.7% (10/68) of offspring (lambda(O) = 37); 17.2% (28/163) of first-degree relatives; 19.5% (16/82) of second-degree relatives; and 17.8% (52/292) of all relatives (lambda® = 44.5). CONCLUSIONS: In these families, we identified a sibling risk approximately double that found in previous reports, as well as significant risk for more distant relatives, probably because of sharing of a common gene. In families where at least two siblings have been diagnosed with celiac disease, relatives are at high risk for celiac disease. Screening should be considered for all family members.
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