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Celiac disease

Orpha number ORPHA555
Synonym(s) CD
Celiac sprue
Coeliac disease
Coeliac sprue
Gluten intolerance
Gluten-induced enteropathy
Gluten-sensitive enteropathy
Idiopathic steatorrhea
Nontropical sprue
Prevalence >1 / 1000
Inheritance Multigenic/multifactorial
Age of onset All ages
ICD-10
  • K90.0
ICD-O -
OMIM
UMLS
  • C0007570
MeSH
  • D002446
MedDRA
  • 10009839

Summary

Celiac disease (CD) is a chronic intestinal disorder caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. Prevalence of clinically overt CD varies from 1/270 in Finland to 1/5,000 in North America. CD is typically diagnosed in early childhood around two years of age. The main symptoms are: stomach pain, gas and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Latent CD may be found around 40 years of age. Since CD can be asymptomatic, most subjects are not diagnosed or may present with atypical symptoms. Patients with atypical CD present with extraintestinal symptoms like immunoglobulin A (IgA)-nephropathy, hemosiderosis of the lungs and a variety of neurological disorders. Furthermore, severe inflammation of the small intestine can be present with no gastrointestinal symptoms; antibodies and typical small intestinal changes can be found. The exact cause of celiac disease is unknown but it is thought to be primarily immune-mediated (tissue-transglutaminase autoantigen); the disease is often inherited. The disease is associated with HLA-DQ2/DQ8 genes. However, 20% of the healthy population carry these genes. Therefore, no genetic test which could identify celiac disease-causing genes is currently available. In predisposed patients, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Early diagnosis is desirable since many symptoms can resolve after initiation of a gluten-free diet, and since CD causes growth retardation in untreated children as well as atypical symptoms such as infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. Identification of tissue-transglutaminase antibodies is important to confirm the diagnosis and rule out diseases which can mimic celiac disease. Differential diagnosis includes: collagenous colitis,Whipple's disease, Crohn's disease of the small intestine, autoimmune enteropathy, graft versushost disease (see these terms), tropical sprue, viral enteritis, giardiasis, AIDS, small intestinal lymphoma, carbohydrate intolerance, cow's milk intolerance, and radiation damage. There is no need for genetic screening since CD can be treated by a specific diet. Management consists in lifelong withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years. Patients usually enjoy a good quality of life and have a normal life expectancy.

Expert reviewer(s)

  • Pr Wolfgang F. CASPARY
  • Dr Wolfgang HOLTMEIER

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Detailed information

Review article
  • EN (2006)
Clinical practice guidelines
  • EN (2014)
Clinical genetics review
  • EN (2008)
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