Skip to main content
Passa alla visualizzazione normale.

CARLA GIORDANO

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

  • Authors: Garelli, S; Dalla Costa, M; Sabbadin, C; Barollo, S; Rubin, B; Scarpa, R; Masiero, S; Fierabracci, A; Bizzarri, C; Crinò, A; Cappa, M; Valenzise, M; Meloni, A; De Bellis, A M; Giordano, C; Presotto, F; Perniola, R; Capalbo, D; Salerno, M C; Stigliano, A; Radetti, G; Camozzi, V; Greggio, N A; Bogazzi, F; Chiodini, I; Pagotto, U; Black, S K; Chen, S; Rees Smith, B; Furmaniak, J; Weber, G; Pigliaru, F; De Sanctis, L; Scaroni, C; Betterle, C
  • Publication year: 2021
  • Type: Articolo in rivista
  • OA Link: http://hdl.handle.net/10447/584101

Abstract

Background Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD). Methods Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 +/- 15.1 years. AIRE mutations were determined. Results The prevalence of APS-1 was 2.6 cases/million (range 0.5-17 in different regions). At the onset 93% of patients presented with one or more components of the classical triad and 7% with other components. At the end of follow-up, 86.1% had CH, 77.2% AD, 74.7% CMC, 49.5% premature menopause, 29.7% autoimmune intestinal dysfunction, 27.8% autoimmune thyroid diseases, 25.9% autoimmune gastritis/pernicious anemia, 25.3% ectodermal dystrophy, 24% alopecia, 21.5% autoimmune hepatitis, 17% vitiligo, 13.3% cholelithiasis, 5.7% connective diseases, 4.4% asplenia, 2.5% celiac disease and 13.9% cancer. Overall, 991 diseases (6.3 diseases/patient) were found. Interferon-omega Abs (IFN omega Abs) were positive in 91.1% of patients. Overall mortality was 14.6%. The AIRE mutation R139X was found in 21.3% of tested alleles, R257X in 11.8%, W78R in 11.4%, C322fsX372 in 8.8%, T16M in 6.2%, R203X in 4%, and A21V in 2.9%. Less frequent mutations were present in 12.9%, very rare in 9.6% while no mutations in 11% of the cases. Conclusions In Italy, APS-1 is a rare disorder presenting with the three major manifestations and associated with different AIRE gene mutations. IFN omega Abs are markers of APS-1 and other organ-specific autoantibodies are markers of clinical, subclinical or potential autoimmune conditions.