title: Celiac disease in a Chilean population carrying Amerindian traits.
abstract: BACKGROUND
  Although clinical manifestations of celiac disease may change throughout life, clinical, histologic, immunologic, and genetic studies show that there are incomplete forms of this condition, making it difficult to define the disease at a given moment. Because there is no information published in the Latin American-Amerindian population, this study was conducted to assess relations between these parameters in Chileans with celiac disease and their first-degree relatives.
  
  
  METHODS
  Sixty-two persons with confirmed celiac disease (mean age, 17.9 +/- 5.1 years; 78.3% females) and 126 relatives (mean age, 27.9 +/- 17.2 years; 65.1% females) were evaluated. Clinical manifestations, antiendomysial antibodies (EMAs), and human leukocyte antigen (HLA) haplotypes were studied in patients. Additionally, jejunal biopsy specimens were assessed (light microscopy) in EMA-positive (EMA+) relatives.
  
  
  RESULTS
  Of the patients, 24.1% adhered to a strict gluten-free diet; 26% were oligosymptomatic, and none were malnourished; 45% were EMA+; 13.8% who ingested gluten were EMA-negative (EMA-); one patient consuming a strict gluten-free diet was EMA+. The DQA1*0501 allele was present in the highest frequency (48%, P < 0.0005), whereas combinations of DQ8 were predominant. Of the relatives, 4.8% were EMA+; they had a significantly higher frequency of diarrhea, weight loss, and anorexia (P < 0.03); and all had abnormal histology in biopsy specimens.
  
  
  CONCLUSIONS
  After childhood, celiac disease is oligosymptomatic and is often unrecognized by patients. Disease in 13.8% of patients and in 4.8% relatives appeared as incomplete forms of celiac disease. Predominance of DQ8 HLA haplotypes reflects the genetic Spanish-Mapuche heritage of this population.
authors.affiliation: Human Nutrition/Clinical Nutrition Department, Institute of Nutrition and Food Technology, University of Chile, Santiago.
authors.forename: M
authors.initials: M
authors.lastname: Araya
authors.forename: A
authors.initials: A
authors.lastname: Mondragón
authors.forename: F
authors.initials: F
authors.lastname: Pérez-Bravo
authors.forename: J L
authors.initials: JL
authors.lastname: Roessler
authors.forename: T
authors.initials: T
authors.lastname: Alarcón
authors.forename: G
authors.initials: G
authors.lastname: Rios
authors.forename: C
authors.initials: C
authors.lastname: Bergenfreid
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001323:Autoantibodies / Q000097:blood*; D001706:Biopsy; D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D002677:Chile / Q000453:epidemiology; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D005983:Glutens / Q000009:adverse effects; D006683:HLA-DQ Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D007223:Infant; D007583:Jejunum / Q000276:immunology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011795:Surveys and Questionnaires
chemical_list: D001323:Autoantibodies; D006683:HLA-DQ Antigens; D005983:Glutens