Celiac Disease in El Salvador

Mauricio Cromeyer, Rafael A. Gutiérrez, Karla Zaldívar, J. Bart A. Crusius, Amado Salvador Peña

Resumen


Celiac disease is insufficiently known in El Salvador. Between July and August 2012, 32 patients (23F, 9M) with ages between 19 and 77 diagnosed with celiac disease, 21 relatives (13F, 8M) of the celiac patients and 8 persons who were in undergoing the diagnostic process were studied. Genomic DNA was extracted from peripheral blood for HLA-DQA1 and HLA-DQB1 genotyping. Polymerase chain reaction-amplified exon 2 amplicons were generated for low-to-medium resolution typing in a combined, single-stranded conformation polymorphism heteroduplex assay by a semi-automated electrophoresis and gel-staining method on the PhastSystem. The biopsy specimens were revised and classified according to a modified Marsh classification of Oberhüber et al. All participants in this study reside in urban areas. Of the 32 cases, 23 were celiac disease risk genotype carriers, with the following distribution: 14 HLA-DQ8 (12F and 2M), 7 HLA-DQ2.5 (3F and 4M), 2 HLA-DQ2.5 and DQ8 (1F,1M). A review was made of clinical history of 9 cases (7F, 2M) who were neither DQ2.5 nor DQ8. Three of them had a Marsh II and 4 Marsh IIIA of the modified histological classification. All patients have responded to a gluten-free diet. Of the seven families studied, the daughter of one patient was found to suffer from celiac disease, one daughter of another patient suffered from Sjogrën's syndrome, and the other of rheumatoid arthritis and the sister of another patient has thyroid disease, early menopause and suffered from attacks of migraine. The rest of the first- and second- degree relatives of the seven families have, so far, no clinical evidence of the disease in spite of the fact that 17 have HLA-DQ2.5 and/or DQ8 or DQ9.3/DQ2.2. Therefore, careful follow-up of these individuals is indicated. Eight other subjects mentioned above were not included in the final study because no reliable information could be gathered on their cases. This is the first study using the modified Marsh classification and the full HLA-DQ tying in El Salvador.

Palabras clave


celiac, El Salvador

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