Celiac disease

Orphanet J Rare Dis. 2006 Mar 1;1:3. doi: 10.1186/1750-1172-1-3.

Abstract

Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen); often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

Publication types

  • Review

MeSH terms

  • Adult
  • Celiac Disease / diagnosis*
  • Celiac Disease / diet therapy*
  • Celiac Disease / epidemiology
  • Celiac Disease / genetics
  • Celiac Disease / immunology
  • Child, Preschool
  • Diagnosis, Differential
  • Diet, Gluten-Free
  • Europe / epidemiology
  • HLA-DQ Antigens / genetics
  • Humans
  • Intestinal Diseases / diagnosis
  • North America / epidemiology
  • Prevalence

Substances

  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen