Celiac Disease is the most prevalent autoimmune disease in the world

Grasping how the disease works and finding alternative treatments is crucial to improve Celiac Disease patients’ health and well-being.

It is also

  • The only one with a known trilogy of trigger (ingested gluten), auto-antibody (anti-transglutaminase-2) and genes (HLA DQ 2/8)
  • The only one with patients rendering fully asymptomatic (by excluding the trigger), instead of only partially controlling symptoms (through chronic medication, with important side effects) as happens with all other autoimmune diseases

Yet, it is still a fairly unknown disease

  • Frequently confused with a food allergy
  • Minimized the required rigorous care with the patients’ gluten-free diet, to prevent several serious diseases, like cancer or infertility

Some facts about Celiac Disease

Celiac Disease is an autoimmune disease, not a food-related disease, although it is a food that triggers it (gluten) and a diet that treats it (gluten-free diet).
All people produce transglutaminase-2 (it is a self-molecule). Only Celiac Disease patients produce antibodies against it (an antibody against a self-molecule, i.e. an auto-antibody, being thus an autoimmune disease).
It is yet to be understood transglutaminase-2 function in our body (apart from being central to Celiac Disease pathophysiology).
Celiac Disease is the only autoimmune disease with a known trigger: ingestion of gluten-containing grains (wheat, rye, barley, some oat variants); a known specific immune response: autoantibodies against transglutaminase-2; and a known genetic signature: HLA DQ 2 and 8 haplotypes.
Although no person without HLA DQ 2/8 haplotypes develops Celiac Disease, the majority of its carriers do not develop it. In fact, with an estimate of being present in nearly 40% of the worldwide population, only 3% of HLA DQ 2/8 carriers develop Celiac Disease.
All Celiac Disease patients produce autoantibodies against transglutaminase-2 when eating gluten, making them great biomarkers for treatment compliance. However, a small fraction of HLA DQ 2/8 carriers with high titers of anti-transglutaminase-2 autoantibodies eat gluten for years without developing any symptoms, while others with no detectable titers of anti-transglutaminase-2 autoantibodies and complying with a gluten-free diet remain symptomatic.
It is estimated that nearly 1,7% worldwide population have Celiac Disease, but the majority remain undiagnosed. Geographic variations are known, with Northern Europe countries with higher prevalence. However, as only a few studies address this disease prevalence, more studies are required to better understand the global distribution of Celiac Disease.
For the estimated 1,7% of people who have this autoimmune condition, avoiding gluten is currently the only method for thwarting small intestine damage and relieving its various signs and symptoms: abdominal pain, bloating, diarrhea, constipation, headache, fatigue, blistery skin rash, depression and iron-deficiency anemia, among others.
When a Celiac Disease patient eats gluten, their entire body is impaired, not only their gut, since the immune system wrongly attacks all tissues with transglutaminase-2: the gut, the brain, the liver, the joints, the skin, the muscles…
When a Celiac Disease patient eats gluten, the immune system immediately attacks the small intestine and blocks nutrient absorption. Impairments in other parts of the body (considering the general distribution of transglutaminase-2 in the body) are yet to be characterized.
Minute amounts of gluten (20 ppm = a crumb in a crackers bag…) immediately retrigger symptoms in the majority of patients, within minutes of hours.
Apart from its direct pathogenesis, if untreated, Celiac Disease increases the risk to develop other autoimmune disorders, infertility, neurological conditions and cancer.
Children with Celiac Disease are especially at risk for type 1 diabetes, poor growth, foggy thinking, and delays in puberty.
Infants and children are more likely to have digestive signs and symptoms (bloating, diarrhea, vomiting, constipation, abdominal pain). Adults are more likely to experience fatigue, bone or joint pain, migraines, depression or anxiety. Risk of anemia is similar to both. But considering the unspecific signs and symptoms, the disease can be hard to diagnose.
Diagnosis involves scanning the blood for anti-transglutaminase-2 auto-antibodies followed by a duodenal endoscopy and histology (biopsy) evaluation. Other antibodies can also be screened, in cases where results are ambiguous and symptoms and medical history are highly suggestive.
Following a gluten-free diet is highly challenging and socially impacting, by limiting these patients’ access to food-related events, imposing rigorous planning and management of their meals, indoor and outdoor, in leisure and at work, and thus their daily lives.
When outside their “safe zone”, avoiding cross-contamination by gluten-containing foods is more challenging than assuring the availability of gluten-free foods.
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Some questions that remain unanswered

  • Why do some people with a genetic predisposition to Celiac Disease develop the disease while others don’t?
  • Are there other genetic and/or environmental factors besides eating gluten?
  • Does the human microbiota have an influence on Celiac Disease development?
  • How is gluten digested?
  • Which are the most immunogenic epitopes of this huge protein only present in wheat, rye and barley?
  • Do all participate equally in Celiac Disease triggering?
  • Does bacteria influence gluten epitope presentation to the immune system?

CeliAct(TIV) Project

CeliAct(TIV) project aims to advance the knowledge on Celiac Disease pathophysiology by dissecting mechanisms of gluten-microbiota-immune system interactions.

One aim is to characterize the bacterial microbiota structure of Celiac Disease patients and their first-degree relatives. Are there distinct features in a Celiac Disease patient? What are these bacteria doing? Do they impact gluten digestion?

Another aim is to contribute to the understanding of gluten-microbiota-immune system interplay. Do bacteria influence gluten digests presentation to the immune system? Do they contribute to gut inflammation and gluten or bacteria translocation?

Why does this research matter?

Avoiding gluten is currently the only method for thwarting intestinal damage, relieving symptoms and prevent complications. But eating even the tiniest fraction of gluten immediately re-triggers symptoms and intestinal damage in most Celiac Disease patients. Moreover, around 30% Celiac Disease patients still have symptoms despite avoiding gluten, having no alternative treatment for their disease.

Talks and Events

2024 Beyond Celiac Research Summit

Sónia Gonçalves Pereira was invited to participate in the event “2024 Beyond Celiac Research Summit”, held at Children Hospital’s of Philadelphia, USA, on October 26th,...

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International Society for Study of Celiac Disease (ISSCD)

Flávio Costa participated in the biennial meeting of the International Society for Study of Celiac Disease (ISSCD), the largest global meeting in the field of...

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10th International Human Microbiome Consortium (IHMC) Congress 2024

Ana Roque participated in the 10th International Human Microbiome Consortium (IHMC) Congress 2024, held in Rome, 22-25 June 2024, where experts from the field, as...

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Portuguese Science Summit 2024

Sónia Gonçalves Pereira participated in Portuguese Science Summit 2024, the largest annual Science and Innovation event in Portugal, held in Porto, 3-5 July, under the...

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World Celiac Disease Awareness Day – Online Public Petition

Petition for equity in access to treatment for patients with celiac disease: reimbursement of alternative gluten-free food products to conventional ones. To read, sign and...

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Science Swing meeting

On the 25th of October, the research team at ciTechCare received a visit from one of our international collaborators Dr. Alfonso Benítez-Páez. In a scientific...

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Publications

Celiac disease gut microbiome studies in the third millennium: reviewing the findings and gaps of available literature

Luz, Vanessa C. C.; Pereira, Sónia Gonçalves. “Celiac disease gut microbiome studies in the third millennium: reviewing the findings and gaps of available literature”. Frontiers...

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Dietary patterns drive loss of fiber-foraging species in the celiac disease patients gut microbiota compared to first-degree relatives

Roque, Ana; Zanker, Joyce; Brígido, Sara; Tomaz, Maria Beatriz; Gonçalves, André; Barbeiro, Sandra; Benítez-Páez, Alfonso; Pereira, Sónia Gonçalves. “Dietary patterns drive loss of fiber-foraging species...

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Bacteria: Potential Make-or-Break Determinants of Celiac Disease

Roque, A., & Pereira, S. G. (2024). Bacteria: Potential Make-or-Break Determinants of Celiac Disease. International Journal of Molecular Sciences, 25(4), 2090. doi: 10.3390/ijms25042090 AbstractCeliac disease...

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Funding Sources

CeliAct(TIV) project

Beyond Celiac Foundation
2022
Established Investigator Award

Research Team

CeliAct(TIV) Project

Is led by

Sónia Gonçalves Pereira

Principal Investigator
Center for Innovative Care and Health Technology
Polytechnic of Leiria, Portugal

Daniela Cipreste Vaz

Co-Principal Investigator
Chemistry Center of Coimbra
University of Coimbra, Portugal

In collaboration with​

Katri Lindfors

Celiac Disease Research Center
University of Tampere, Finland
and her team

Alfonso Benitez Paez

Centro Investigación Príncipe Felipe
Valencia, Spain
and his team

Alessio Fasano

Massachusetts General Hospital
Harvard Medical School, Massachusetts, United States of America
and his team

Catarina Reis

Center for Innovative Care and Health Technology
Polytechnic of Leiria, Portugal

And have as local team members

Ana Isabel Roque

PhD student
Center for Innovative Care and Health Technology
Polytechnic of Leiria, Portugal

2 MSc technicians

To be recruited

To contact the team

celiact@ipleiria.pt

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