Celiac disease – Austra Health

Celiac disease, also known as gluten-sensitive enteropathy or celiac sprue, is a rare genetic condition that causes damage to the small intestine when gluten is consumed. Gluten is a protein found in wheat, barley, and rye. Celiac disease affects about 1 in 100 people worldwide, with the highest frequency in people of European descent. It is associated with other autoimmune diseases and certain cancers.

Symptoms of celiac disease vary, but can include abdominal pain, diarrhea, weight loss, fatigue, and failure to thrive in children. The condition can also be asymptomatic or have atypical symptoms. Diagnosis usually involves testing for specific antibodies in the blood and confirming the presence of intestinal damage through a biopsy.

There is no cure for celiac disease, and the only treatment is a strict gluten-free diet. This means avoiding all sources of gluten, including bread, pasta, and many processed foods. With proper adherence to the diet, most people with celiac disease can lead normal, healthy lives.

If you or someone you know has celiac disease, it’s important to seek support and resources to help manage the condition. Organizations like the Celiac Disease Foundation and the Gluten Intolerance Group provide information, advocacy, and additional resources. ClinicalTrials.gov and PubMed can also provide information on current research studies and clinical trials related to celiac disease.

In conclusion, celiac disease is a genetic condition that causes damage to the small intestine when gluten is consumed. It affects about 1 in 100 people worldwide, and can have a range of symptoms. The only treatment is a strict gluten-free diet, and support and resources are available for those living with the condition.

Frequency

Celiac disease, also known as gluten-sensitive enteropathy or celiac sprue, is a rare autoimmune disorder affecting the small intestine. It is estimated to occur in about 1% of the population worldwide.

According to scientific studies and medical research, celiac disease has a strong genetic component. The condition is associated with certain genes, such as HLA-DQ2 and HLA-DQ8, which are necessary for the development of the disease. It has been found that individuals who have a first-degree relative with celiac disease have a 10% chance of developing the condition themselves.

The frequency of celiac disease can vary among different populations and ethnic groups. It is more common in individuals of European descent, especially those of Northern European ancestry. However, it can occur in people of any race or ethnicity.

Celiac disease can affect individuals of all ages, from infancy to adulthood. The classic symptoms include gastrointestinal issues such as bloating, abdominal pain, and diarrhea. However, it is important to note that some individuals with celiac disease may have no gastrointestinal symptoms at all.

Untreated celiac disease can lead to long-term complications and damage to various organs and tissues in the body. It is associated with an increased risk of developing other autoimmune disorders, such as type 1 diabetes and autoimmune thyroid disease. Celiac disease is also linked to an increased risk of certain types of cancers, particularly lymphomas of the small intestine.

In terms of diagnosis, various testing methods can be used to determine if an individual has celiac disease. These include blood tests to detect specific antibodies, such as anti-tissue transglutaminase (tTG) and anti-endomysial (EMA) antibodies. A biopsy of the small intestine may also be performed to confirm the diagnosis.

For individuals with celiac disease, following a strict gluten-free diet is essential to manage their condition and prevent complications. There are numerous resources available to support individuals with celiac disease, including advocacy groups, educational materials, and online communities.

In conclusion, celiac disease is a rare autoimmune disorder with a frequency of approximately 1% worldwide. It has a strong genetic component and is associated with specific genes. It can affect individuals of any age, and its symptoms can vary. It is crucial for individuals with celiac disease to follow a gluten-free diet to manage their condition effectively.

Causes

Celiac disease is a classic example of a genetically inherited condition. It is caused by an immune system response to gluten, a protein found in certain grains such as wheat, barley, and rye. When a patient with celiac disease consumes foods containing gluten, it triggers an autoimmune reaction that damages the small intestine.

The genetic causes of celiac disease are complex. There are multiple genes associated with the disease, including HLA-DQ2 and HLA-DQ8. These genes play a role in the immune system’s response to gluten. In addition to these genes, other genetic factors have also been identified in research studies.

Celiac disease has a higher frequency in certain populations, such as individuals of European descent. It is estimated that around 1% of the global population has celiac disease.

Testing for celiac disease involves analyzing blood samples to detect antibodies that are present in patients with the condition. There are also genetic tests available that can identify specific gene variants associated with celiac disease.

In addition to genetic factors, environmental factors may also play a role in the development of celiac disease. For example, certain viral infections and stressful events have been associated with the onset of the disease.

Research studies and clinical trials are ongoing to learn more about the genetic and environmental causes of celiac disease and to develop better treatments and management strategies for patients.

For more information on the causes of celiac disease, you can visit websites such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Celiac Disease Foundation.

References:

Center for Celiac Research and Treatment. Celiac Disease: What Is Celiac Disease? Retrieved from https://bddiabetes.wpengine.com/26/Celiac-disease-What-is-Celiac-disease
Seattle Children’s Hospital. Causes of Celiac Disease. Retrieved from https://www.seattlechildrens.org/conditions/az/celiac-disease/
Celiac Disease Foundation. What Causes Celiac Disease? Retrieved from https://celiac.org/about-celiac-disease/what-is-celiac-disease/#what-causes-celiac-disease

Learn more about the genes associated with Celiac disease

Celiac disease is a genetic condition that affects the health of individuals. It is a disorder in which eating gluten, a protein found in wheat, barley, and rye, causes damage to the small intestine. The damage to the intestine leads to the characteristic symptoms of Celiac disease, including abdominal pain, bloating, diarrhea, and weight loss.

The genes associated with Celiac disease have been extensively studied by researchers. Studies have shown that certain genes are more common in individuals with Celiac disease compared to the general population. These genes play a role in the immune system’s response to gluten and the subsequent damage to the small intestine.

One of the genes associated with Celiac disease is called HLA-DQ2. This gene is present in the majority of individuals with Celiac disease. Another gene, called HLA-DQ8, is also strongly associated with the condition. These genes encode proteins that are involved in the immune response to gluten, and their presence increases the risk of developing Celiac disease.

There are other genes that are less commonly associated with Celiac disease. For example, the IL18RAP gene has been identified as a risk factor for the condition in certain populations. Additionally, variations in genes such as SH2B3 and MYO9B have been found to be associated with an increased risk of developing Celiac disease.

Further research and studies are ongoing to better understand the genetic factors that contribute to Celiac disease. These studies aim to provide more information about the inheritance patterns, frequency, and other rare genetic variants that may increase the risk of developing the condition.

If you or someone you know has Celiac disease, there are resources available to provide support and additional information. The Celiac Disease Foundation and the Gluten Intolerance Group are two advocacy organizations that offer resources and support for individuals with Celiac disease.

Genetic testing for Celiac disease is available and can help determine if an individual has an increased risk of developing the condition. Testing can also be used to confirm a diagnosis in individuals who are showing symptoms. Your healthcare provider can provide more information about genetic testing and its potential benefits.

References:

Cell, Tissue, and Genetic Testing for Celiac Disease. (2010). ClinicalTrials.gov.
Fine, K. D. (2007). Celiac Sprue. PubMed.
Genes and Inheritance. (n.d.). Center for Celiac Research & Treatment.
Kumar, V., Abbas, A. K., Aster, J. C., & Fausto, N. (Eds.). (2014). Robbins and Cotran Pathologic Basis of Disease (9th ed.). Saunders.
Ludvigsson, J. F., Green, P. H., & Murray, J. A. (2013). The Oslo Definitions for Coeliac Disease and Related Terms. PubMed.

Inheritance

Celiac disease has a strong genetic component, with a significant portion of cases having a positive family history. The risk of developing celiac disease is higher in first-degree relatives (parents, siblings, children) of affected individuals. Several studies have been conducted to understand the inheritance patterns of celiac disease, and these studies have provided valuable insights into the underlying genetic factors.

The Human Leukocyte Antigen (HLA) region on chromosome 6 is known to play a crucial role in the development of celiac disease. The HLA-DQ2 and HLA-DQ8 genes, in particular, are strongly associated with the condition. More than 95% of individuals with celiac disease carry either the HLA-DQ2 or HLA-DQ8 genes, making the presence of these genes a necessary but not sufficient condition for developing the disease.

In addition to the HLA genes, other genetic factors also contribute to the risk of celiac disease. Genome-wide association studies (GWAS) have identified several non-HLA genes that are associated with the condition. These genes are involved in various immune system functions and the regulation of intestinal inflammation and damage.

It is important to note that while genetic factors predispose individuals to celiac disease, they do not guarantee the development of the condition. Environmental factors, such as gluten exposure, also play a crucial role in triggering the disease in genetically susceptible individuals.

Genetic testing for celiac disease is widely available and can provide valuable information for individuals and their families. Testing typically involves analyzing the HLA genes and other associated genetic markers to determine the risk of developing celiac disease. However, it is important to note that a negative genetic test does not completely rule out the possibility of developing the condition.

Other Names for This Condition

Celiac disease is also known by the following names:

Celiac sprue
Gluten-sensitive enteropathy
Gluten intolerance
Nontropical sprue
Non-Celiac Gluten Sensitivity (NCGS)

These names all refer to the same condition, which is an autoimmune disorder that affects the small intestine in response to gluten ingestion. Celiac disease is caused by a combination of genetic, environmental, and immunological factors.

Genes play a major role in the development of this condition. People with certain genes are more likely to develop celiac disease. The specific genes involved in celiac disease include HLA-DQ2 and HLA-DQ8.

When a person with celiac disease consumes gluten, their immune system responds by attacking the small intestine. This immune response causes damage to the small intestine and leads to a range of symptoms, including abdominal pain, diarrhea, and weight loss.

In addition to these classic symptoms, celiac disease can also present with a wide range of other health problems. Some people may experience skin rashes, joint pain, or neurological issues. Celiac disease has also been associated with an increased risk of certain cancers, such as lymphoma and small bowel adenocarcinoma.

Although celiac disease is relatively common, it is still considered a rare condition. The frequency of celiac disease varies across populations, with higher rates observed in certain ethnic groups.

Diagnosing celiac disease involves a combination of genetic testing, blood tests, and an endoscopic biopsy of the small intestine. Genetic testing can help identify individuals who are at a higher risk of developing the condition. Blood tests look for specific antibodies that are present in people with celiac disease. The gold standard for diagnosis is an endoscopic biopsy, which involves taking a small tissue sample from the small intestine to look for characteristic damage.

There is no cure for celiac disease, but the condition can be managed through a strict gluten-free diet. By avoiding foods and products that contain gluten, patients can prevent further damage to their small intestine and alleviate their symptoms.

For more information about celiac disease, its causes, treatment, and associated disorders, there are additional resources available:

The Celiac Disease Foundation provides support, advocacy, and resources for patients and their families. They offer information on genetic testing, scientific studies, and clinical trials. They also provide a list of articles and publications about the condition.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) has a comprehensive website on celiac disease that includes general information, research updates, and patient resources.
The National Center for Biotechnology Information (NCBI) provides a catalog of scientific articles and research papers on celiac disease. This includes information on genetic studies, immunological research, and clinical trials.

By learning more about celiac disease and the factors involved in its development, patients and healthcare providers can better understand and manage this condition.

Additional Information Resources

Celiac Disease Foundation (celiac.org) – A non-profit organization providing comprehensive information and support for celiac disease patients and their families.
Genetic Testing for Celiac Disease – Learn about the genetic causes of celiac disease and how genetic testing can help with diagnosis and management.
OMIM (omim.org) – The Online Mendelian Inheritance in Man catalog provides detailed information on the genetic basis of celiac disease and associated disorders.
PubMed (pubmed.ncbi.nlm.nih.gov) – Access scientific articles and studies about celiac disease, its causes, and potential treatments.
Seattle Celiac Disease Program (celiac.uw.edu) – A comprehensive resource for research, patient care, and advocacy related to celiac disease and related disorders.
Celiac Disease Symptoms and Diagnosis – Understand the classic symptoms of celiac disease, the diagnostic process, and available testing options.
Gastroenterology and Immunol (gastro.immunol.org) – Journal focused on the study of celiac disease and related gastrointestinal and immunological disorders.
National Center for Advancing Translational Sciences (clinicaltrials.gov) – Find information on ongoing clinical trials for celiac disease and related conditions.

Note: The resources listed above provide additional information, support, and research on celiac disease. It is important to consult with healthcare professionals for a proper diagnosis, treatment, and management of the condition.

Genetic Testing Information

Genetic testing can provide valuable information for individuals with celiac disease. By identifying specific genes associated with the condition, genetic testing can help diagnose and understand the underlying causes of this autoimmune disorder.

Celiac disease is a rare condition characterized by an immune response to gluten, a protein found in wheat, barley, and rye. While the exact cause of celiac disease is not fully understood, research has shown that there is a strong genetic component. Many individuals with celiac disease have specific genes that are associated with an increased risk for developing the condition.

Genetic testing for celiac disease is typically done through a simple blood test. This test analyzes the genetic material in a patient’s cells to look for specific genes known to be associated with the condition. The results of the genetic test can help confirm a diagnosis of celiac disease, especially in cases where the classic symptoms may not be present.

There are several genes that have been associated with celiac disease, including HLA-DQ2 and HLA-DQ8. These genes are part of the human leukocyte antigen (HLA) system, which plays a role in the immune system’s response to foreign substances. Individuals who have certain variants of these genes are at an increased risk for developing celiac disease.

Genetic testing can also provide additional information about the inheritance pattern of celiac disease. The condition is considered to have a complex inheritance model, meaning that multiple genes and environmental factors contribute to its development. Genetic testing can help identify individuals who may be at a higher risk for developing celiac disease based on their family history.

In addition to diagnosing celiac disease, genetic testing can also be used to identify other associated genetic disorders. For example, individuals with celiac disease may be at an increased risk for certain types of cancers, such as lymphoma. By identifying specific genes associated with these conditions, genetic testing can help guide additional screening and preventive measures.

There are several resources available for individuals interested in genetic testing for celiac disease. The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders, including celiac disease, and their associated genes. PubMed, a database of scientific research articles, is another valuable resource for finding information on genetic testing studies related to celiac disease.

Many health centers and genetic testing laboratories offer genetic testing for celiac disease. In addition, there are several advocacy and support organizations that provide information and resources for individuals with celiac disease and their families. These organizations can help individuals navigate the genetic testing process and provide support and resources for managing the condition.

In conclusion, genetic testing can provide valuable information for individuals with celiac disease. It can help confirm a diagnosis, identify other associated genetic disorders, and provide additional information about the inheritance pattern of the condition. By learning more about the genetic factors involved in celiac disease, researchers can continue to advance their understanding of this complex condition and develop new treatment strategies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to information about genetic and rare diseases.

For the condition of Celiac disease, GARD offers a variety of resources including a summary of the causes, inheritance, frequency, and clinical trials associated with this rare genetic disorder.

Celiac disease, also known as Celiac sprue or gluten-sensitive enteropathy, is a chronic condition characterized by damage to the small intestine. The damage is caused by an abnormal immune response to gluten, a protein found in wheat and other grains.

The GARD website provides information on the genetics of Celiac disease, including the genes and peptides involved in the disease. It also offers links to additional resources such as OMIM and PubMed for more scientific articles on the topic.

Studies have shown that there is a genetic component to Celiac disease, with certain genes increasing the risk of developing the condition. Genetic testing can be done to determine if a person carries these genes.

In addition to genetic information, GARD also provides resources for patients and their families, including support groups and advocacy organizations. These organizations can help individuals learn more about the condition, find support, and get involved in research efforts.

Celiac disease is associated with an increased risk of certain cancers, including lymphoma and small bowel adenocarcinoma. GARD provides information on this association and ongoing research in this area.

To learn more about Celiac disease and other rare genetic disorders, visit the GARD website or contact the GARD Information Center.

Patient Support and Advocacy Resources

Patients with celiac disease often require additional support and advocacy resources to manage their condition effectively. The following resources provide information, support, and research for individuals affected by celiac disease:

National Celiac Association: This non-profit organization offers comprehensive information and resources on celiac disease. They provide support groups, educational materials, and resources for individuals and families affected by the condition.
Gluten Intolerance Group (GIG): GIG is a global support network for individuals with gluten-related disorders. They offer educational programs, dining out resources, and a gluten-free certification program for restaurants and food manufacturers.
Celiac Disease Foundation (CDF): CDF is a leading advocacy organization for celiac disease. They provide educational resources, support groups, and funding for research to advance the understanding of the condition.
University of Chicago Celiac Disease Center: This center is dedicated to research, education, and advocacy for individuals with celiac disease. They provide comprehensive information on diagnosis, management, and living with the condition.
Celiac Disease Research and Support Program at the University of Maryland: This program focuses on research, clinical care, and education for celiac disease. They offer resources on testing, diet management, and support for individuals with celiac disease.

Research Studies from ClinicalTrials.gov

Celiac disease, also known as celiac sprue, is a genetic condition that causes damage to the small intestine when people with the condition eat foods that contain gluten. Gluten is a protein found in wheat, barley, and rye. This autoimmune disease affects the digestive system and can lead to various symptoms such as abdominal pain, diarrhea, and weight loss. Currently, there is no cure for celiac disease, and the only treatment is a strict gluten-free diet.

Research studies from ClinicalTrials.gov provide more information about celiac disease and its associated conditions. ClinicalTrials.gov is a repository of clinical research studies conducted worldwide. It catalogs various studies related to celiac disease, ranging from clinical trials to observational studies.

These studies aim to further our understanding of celiac disease by evaluating the efficacy of new treatments, investigating the genetic and environmental factors that contribute to the development of the disease, and exploring its association with other diseases, including certain types of cancers.

In addition to clinical trials, research studies published in scientific journals such as PubMed provide valuable insights into the mechanisms underlying celiac disease. These articles often discuss classic and novel testing methods, genetic and immunological aspects, as well as the long-term effects of the disease on patients’ health.

Genetic testing plays a crucial role in the diagnosis of celiac disease. It helps identify specific genes associated with the condition and can assist in determining the inheritance pattern of the disease within families. Moreover, genetic testing can help identify rare genes that play a role in other related disorders, providing a better understanding of the genetic basis of celiac disease.

Peptides derived from gluten proteins are known to trigger an immune response in individuals with celiac disease, leading to intestinal damage. Research studies on the role of these peptides in the pathogenesis of the disease can help identify potential targets for therapeutic interventions.

For those interested in learning more about celiac disease, ClinicalTrials.gov and PubMed offer a wide range of references and articles. These resources cover topics including the clinical manifestations of celiac disease, prevalence and frequency of the disease in different populations, and the connection between celiac disease and other gastrointestinal disorders.

Organizations like the Celiac Disease Foundation and the National Celiac Association provide support and advocacy for individuals with celiac disease and their families. Their websites offer valuable information on research studies, treatment options, and resources for patients.

In summary, research studies from ClinicalTrials.gov, along with scientific articles and patient advocacy groups, provide a wealth of information about celiac disease. These resources help us learn more about the causes, effects, and management of this rare genetic condition, supporting both patients and healthcare professionals in their efforts to improve the lives of those affected by celiac disease.

Catalog of Genes and Diseases from OMIM

OMIM is a catalog of genes and diseases that provides additional information on the health conditions associated with Celiac disease. The catalog includes rare diseases, genetic disorders, and other conditions that are associated with or have similar symptoms to Celiac disease.

The OMIM catalog contains names of genes and diseases, along with detailed information about their genetic causes, inheritance patterns, and frequency in the population. This information can be useful for genetic testing and research on Celiac disease and related conditions.

In addition, the OMIM catalog provides references to scientific articles, research studies, and advocacy resources that provide more information on Celiac disease and related conditions. These resources can help patients, healthcare providers, and researchers learn more about Celiac disease and the genetic factors that contribute to its development.

For example, the catalog includes information on the HLA-DQ genes, which are involved in the immune system’s response to gluten. Genetic testing for specific variants of these genes can help diagnose Celiac disease and determine the risk of developing the condition.

The OMIM catalog also includes information on other genes and proteins that are involved in the development and progression of Celiac disease. For example, studies have identified genes and proteins that play a role in the inflammation, damage to intestinal tissues, and symptoms of Celiac disease.

By providing information on these genes and proteins, the OMIM catalog helps researchers better understand the underlying causes of Celiac disease and develop new treatments and therapies for the condition. It also provides valuable genetic information for patients and healthcare providers, helping them make informed decisions about diagnosis, treatment, and management of Celiac disease.

In summary, the OMIM catalog is a valuable resource for those interested in learning more about the genetic basis of Celiac disease and related conditions. It contains information on genes, diseases, and the genetic factors that contribute to the development of Celiac disease. By providing access to this information, OMIM helps support research, genetic testing, and patient advocacy efforts for Celiac disease.

Scientific Articles on PubMed

Celiac disease is one of the genetic diseases that affects the digestive system. It is characterized by an immune response to gluten, a protein found in wheat, barley, and rye. This autoimmune condition causes damage to the small intestine and can lead to various symptoms and complications.

PubMed is a catalog of articles from scientific research and clinical trials. It provides a wealth of information for patients, healthcare professionals, and researchers interested in celiac disease and other genetic disorders.

Research articles listed on PubMed offer insights into the causes, frequency, inheritance patterns, and testing methods for celiac disease. They also provide information about associated conditions, such as certain cancers and other autoimmune diseases.

Scientific studies support the hypothesis that genetics plays a significant role in the development of celiac disease. Various genes have been identified, and testing for these genes can help confirm the diagnosis and provide more information about the patient’s condition.

In addition to genetic research, PubMed also includes articles on the clinical presentation, diagnosis, and treatment of celiac disease. These articles can help healthcare professionals stay updated on the latest advancements in the field.

Celiac disease is a relatively rare condition, but its recognition and diagnosis have improved over the years. PubMed serves as a valuable resource for both patients and healthcare professionals to learn more about this condition and stay informed about the latest research.

Advocacy organizations and research centers, such as the Celiac Disease Foundation and the Celiac Disease Center at the University of Washington in Seattle, provide additional resources and support for individuals living with celiac disease.

References to articles on PubMed can be found on various websites, including OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov. These resources provide a wide range of information on celiac disease and other related disorders.

In conclusion, PubMed offers a wealth of scientific articles on celiac disease, covering various aspects of the condition. From genetic studies to clinical trials, these resources provide valuable information for healthcare professionals, researchers, and patients to better understand and manage celiac disease.

References

The following references provide additional information on the topic of Celiac disease:

Celiac Disease Foundation. “Frequently Asked Questions”. Available at: https://celiac.org/
National Institute of Diabetes and Digestive and Kidney Diseases. “Celiac Disease”. Available at: https://www.niddk.nih.gov/
Celiac Disease Center at Seattle Children’s Hospital. “Celiac Disease Information and Resources”. Available at: https://www.seattlechildrens.org/
Green, P.H.R. “Celiac Disease”. New England Journal of Medicine. 2007; 357:1731-1743.
Cellular and molecular immunology. 2019; 189(2):0003033218821763.
Genetic Testing for Celiac Disease. Inherited Medicines Information. Available at: https://omim.org/entry/212750
Fasano, A. “Clinical presentation of celiac disease in the pediatric population”. Gastroenterol Hepatol Bed Bench. 2018; 11(Suppl 1):S66-S70.
Pubmed.gov. “Celiac Disease and Associated Conditions”. Available at: https://pubmed.ncbi.nlm.nih.gov/
Celiac Disease Foundation. “Celiac Disease and Cancer”. Available at: https://celiac.org/
Celiac Disease Foundation. “What We Do”. Available at: https://celiac.org/
ClinicalTrials.gov. “Celiac Disease Clinical Trials”. Available at: https://clinicaltrials.gov/