Wednesday, June 18, 2014

Celiac disease (in short)

AuthorsWolfgang Holtmeier and Wolfgang F Caspary. Orphanet Journal of rare Diseases

  • Celiac (or coeliac) disease is a chronic intestinal disease caused by intolerance to gluten (a protein that is found in some cereals). 
  • It is characterized by immune-mediated enteropathy (auto-immune disease), associated with maldigestion and malabsorption of most nutrients and vitamins. 
  • In predisposed individuals, the ingestion of gluten-containing food such as wheat barley, triticale 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. 
  • Frequency of celiac disease varies from 1:270 in Finland to 1:5000 in North America. 
  • Since celiac disease can be asymptomatic (without any symptom), 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 (blood sample) 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 (the microscopic study of tissues) can take years.