Celiac disease in a Chilean population carrying Amerindian traits

Background: Although clinical manifestations of celiac disease may change t hroughout 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 publi shed in the Latin American-Amerindian population, this study was conducted to assess relations between these parameters in Chileans with celiac diseas e 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 year s; 65.1% females) were evaluated. Clinical manifestations, antiendomysial a ntibodies (EMAs), and human leukocyte antigen (HLA) haplotypes were studied in patients. Additionally, jejunal biopsy specimens were assessed (light m icroscopy) in EMA-positive (EMA+) relatives. Results: Of the patients, 24.1% adhered to a strict gluten-free diet; 26% w ere oligosymptomatic, and none were malnourished; 45% were EMA+; 13.8% who ingested gluten were EMA-negative (EMA-); one patient consuming a strict gl uten-free diet was EMA+. The DQA1*0501 allele was present in the highest fr equency (48%, P < 0.0005), whereas combinations of DQ8 were predominant. Of the relatives, 4.8% were EMA+; they had a significantly higher frequency o f diarrhea, weight loss, and anorexia (P < 0.03); and all had abnormal hist ology in biopsy specimens. Conclusions: After childhood, celiac disease is oligosymptomatic and is oft en unrecognized by patients. Disease in 13.8% of patients and in 4.8% relat ives appeared as incomplete forms of celiac disease. Predominance of DQ8 HL A haplotypes reflects the genetic Spanish-Mapuche heritage of this populati on.