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Disease Profile

Celiac disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Celiac sprue; Coeliac disease; Gluten intolerance;

Summary

Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune system reacts by damaging tiny parts of the lining of the small intestine called villi. Because villi normally allow the blood to absorb nutrients from food, affected individuals become malnourished.[1] Classic signs and symptoms are caused by inflammation of the gastrointestinal tract and may include diarrhea, weight loss, abdominal pain, swelling, and food intolerance. However, many people have other symptoms involving many body systems, and some people have no symptoms.[2][3] While celiac disease tends to run in families, it does not follow a specific inheritance pattern. The risk to develop celiac disease is raised by having certain forms of the HLA-DQA1 and HLA-DQB1 genes.[2] Treatment is a lifelong, gluten-free diet.[3]

Symptoms

Celiac disease is a systemic autoimmune disease with gastrointestinal symptoms as well as multiple, but variable, non-gastrointestinal symptoms. Signs and symptoms may begin from early childhood to adulthood. In adults, the age at diagnosis is usually between 30 and 50. On average, the time between the first symptoms and diagnosis is about 11 years due to the wide range of non-specific symptoms and lack of symptoms in some people.

Gastrointestinal symptoms of celiac disease may include chronic or recurrent diarrhea; malabsorption; abdominal pain and distention; bloating; vomiting; and weight loss. People with mild to severe gastrointestinal symptoms are usually said to have 'classic celiac disease.'

Non-gastrointestinal symptoms of celiac disease may include dermatitis herpetiformis; chronic fatigue; joint pain/inflammation; iron-deficiency anemia; migraines; depression; attention-deficit disorder; epilepsy; osteoporosis/osteopenia; infertility and/or recurrent miscarriage; vitamin deficiencies; short stature; failure to thrive; delayed puberty; dental enamel defects; and various secondary autoimmune disorders. People without prominent gastrointestinal symptoms are often said to have 'nonclassic celiac disease,' which is more common than classic celiac disease. Iron-deficiency anemia is the most common finding of nonclassic celiac disease, and may be the only finding.

Some affected people have no symptoms (often identified because of an affected family member or screening) and are said to have 'silent celiac disease.'[4]

Diagnosis

Genetic testing is available for celiac disease. However, genetic testing is often not required for a diagnosis of this condition.

You can find information about labs that offer genetic testing for celiac disease through the Genetic Testing Registry (GTR). The intended audience for the GTR is health care providers and researchers. Therefore, people with specific questions about genetic testing for celiac disease should speak with their health care provider or a genetics professional.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Celiac disease. Click on the link to view a sample search on this topic.

          References

          1. Celiac disease. NDDIC. January 27, 2012; https://digestive.niddk.nih.gov/ddiseases/pubs/celiac/. Accessed 2/3/2014.
          2. Celiac disease. Genetics Home Reference. October, 2011; https://ghr.nlm.nih.gov/condition/celiac-disease.
          3. Celiac Disease. MedlinePlus. May 6, 2013; https://www.nlm.nih.gov/medlineplus/celiacdisease.html. Accessed 2/4/2014.
          4. Taylor AK, Lebwohl B, & Snyder CL. Celiac Disease. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1727/. Accessed 10/29/2015.
          5. Atenodoro R. Ruiz, Jr. Celiac Disease. Merck Manuals. January, 2013; https://www.merckmanuals.com/home/digestive_disorders/malabsorption/celiac_disease.html?qt=celiac%20disease&alt=sh.
          6. Celiac disease sprue. MedlinePlus. February 21, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000233.htm.
          7. Alessio Fasano. Genetics of Celiac Disease. In: Bruce Buehler. Medscape Reference. June 21, 2012; https://emedicine.medscape.com/article/1790189-overview. Accessed 2/4/2014.

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