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Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

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Abstract

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.

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Disclosures

None.

Grant support

Dr Alvarez-Lobos is supported by FONDECYT Grant 1100971. Dr Arostegui and Dr. Yague are supported by FIS PS09/01182 Grant.

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Authors and Affiliations

  1. Department of Rheumatology and Clinical Immunology, Pontificia Universidad Católica de Chile, Santiago, Chile

    Cristian Vergara, Miguel A. Gutierrez, Sergio Iacobelli, María E. Martinez & Lilith Stange

  2. Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile

    Arturo Borzutzky & Eduardo Talesnik

  3. Department of Gastroenterology, School of Medicine, Pontificia Universidad Católica de Chile, Marcoleta 367, Santiago, Chile

    Manuel Alvarez-Lobos

  4. Department of Rheumatology, Universidad de Chile, Santiago, Chile

    Javier Basualdo

  5. Hospital Fuerza Aérea de Chile, Santiago, Chile

    Viviana Maluje

  6. Hospital Gustavo Fricke, Santiago, Chile

    Renato Jimenez

  7. Hospital Militar de Santiago, Santiago, Chile

    Roberto Wiener & Javier Tinoco

  8. Hospital Naval Almirante Nef, Viña del Mar, Chile

    Elena Jarpa

  9. Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunología/CDB, Hospital Clínic/IDIBAPS, Barcelona, Spain

    Juan I. Aróstegui & Jordi Yagüe

Authors
  1. Cristian Vergara
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  2. Arturo Borzutzky
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  3. Miguel A. Gutierrez
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  4. Sergio Iacobelli
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  6. María E. Martinez
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  7. Lilith Stange
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  8. Javier Basualdo
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  9. Viviana Maluje
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  10. Renato Jimenez
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  11. Roberto Wiener
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  12. Javier Tinoco
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  13. Elena Jarpa
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  14. Juan I. Aróstegui
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  15. Jordi Yagüe
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  16. Manuel Alvarez-Lobos
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Correspondence to Manuel Alvarez-Lobos.

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Vergara, C., Borzutzky, A., Gutierrez, M.A. et al. Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience. Clin Rheumatol 31, 829–834 (2012). https://doi.org/10.1007/s10067-012-1942-3

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  • DOI: https://doi.org/10.1007/s10067-012-1942-3

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