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Celiac.com 01/29/2025 - Celiac disease is a chronic autoimmune condition triggered by gluten consumption. It is known that close family members of individuals with celiac disease face a higher risk of developing the condition themselves. To better understand this risk, researchers conducted a comprehensive review and analysis of existing studies to estimate the prevalence of celiac disease among first-degree relatives and explore the symptoms they experience. The results highlight significant patterns and offer critical insights for early detection and management strategies. Study Scope and Methodology The analysis included 34 studies encompassing over 10,000 first-degree relatives of individuals diagnosed with celiac disease. First-degree relatives are defined as parents, children, and siblings. These studies used anti-tissue transglutaminase antibody tests to screen for celiac disease and confirmed diagnoses through intestinal biopsies when necessary. The researchers compiled data from multiple regions to determine both the overall prevalence of the disease and its symptoms among these close relatives. The data was further analyzed to assess differences in prevalence between various family roles, geographical regions, and the presence of symptoms. Prevalence of Celiac Disease Among First-Degree Relatives The study found that first-degree relatives of individuals with celiac disease face a significantly elevated risk of developing the condition compared to the general population. Approximately 11% of these relatives tested positive for celiac disease antibodies, and 7% had biopsy-confirmed celiac disease. Family roles played a key part in determining risk levels: Daughters had the highest prevalence rate, with 1 in 4 (23%) affected. Sisters were the second most impacted group, with a 14% prevalence rate. Brothers and sons showed lower but notable prevalence rates of 9% and 6%, respectively. Parents, particularly fathers, showed the lowest prevalence rates, around 5%. These findings emphasize the importance of targeted screening for close female relatives, particularly daughters and sisters, who appear to be at the greatest risk. Regional Differences in Prevalence The prevalence of celiac disease among first-degree relatives varied widely across different countries and regions. Some of the highest antibody prevalence rates were observed in Hungary (24%) and Cuba (19%). Similarly, Serbia (16%) and the United States (15%) reported the highest rates of biopsy-confirmed celiac disease. This variation may be influenced by genetic factors, dietary patterns, healthcare access, and cultural awareness of celiac disease. Regions with higher awareness and diagnostic capabilities are more likely to report higher prevalence rates. Symptoms and Asymptomatic Cases The study also examined the symptoms experienced by first-degree relatives with celiac disease. The majority of cases presented with gastrointestinal symptoms: Abdominal pain was the most commonly reported symptom, affecting 42% of cases. Bloating (39%) and flatulence (38%) were also frequent complaints. Interestingly, a substantial portion of relatives with celiac disease (34%) reported no symptoms at all. This underscores the silent nature of the disease in many individuals, making routine screening even more essential for early detection. Non-gastrointestinal symptoms were also noted, with pallor being the most frequent (54%), possibly indicating anemia or nutrient deficiencies. Implications for Screening and Management Given that approximately 1 in 14 first-degree relatives of celiac disease patients has the condition, routine screening of this population could play a critical role in early detection. Early diagnosis allows for timely dietary interventions, reducing the risk of long-term complications such as nutrient deficiencies, osteoporosis, and other autoimmune conditions. Daughters and sisters, who exhibit the highest risk, should be prioritized in screening programs. Additionally, healthcare providers should consider screening asymptomatic relatives, as they may unknowingly harbor the disease and its associated risks. Why This Study Matters for Families Affected by Celiac Disease This research underscores the genetic connection in celiac disease and highlights the need for vigilance among family members of diagnosed individuals. It provides a clearer picture of which relatives are most at risk and the range of symptoms they might experience—or not experience at all. For families managing celiac disease, these findings emphasize the importance of open communication with healthcare providers about familial risk and the value of proactive screening. Early detection in first-degree relatives can help prevent unnecessary suffering and improve quality of life through timely dietary changes and medical support. In conclusion, this study sheds light on the significant prevalence of celiac disease among close family members and calls for a more comprehensive approach to screening and education. By identifying high-risk individuals early, healthcare systems can better support those affected by this lifelong condition. Read more at: journals.lww.com Watch the video version of this article:

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

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