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Observational Study
. 2023 Oct 23:14:1236878.
doi: 10.3389/fendo.2023.1236878. eCollection 2023.

Autoimmune polyglandular syndrome type 4: experience from a single reference center

Elisa Gatta  1 , Valentina Anelli  1 , Elena Cimino  2 , Elena Di Lodovico  3 , Elda Piovani  4 , Irene Zammarchi  5 , Giorgia Gozzoli  4 , Virginia Maltese  1 , Maria Cavadini  1 , Barbara Agosti  3 , Andrea Delbarba  3 , Ilenia Pirola  1 , Angela Girelli  2 , Caterina Buoso  1 , Francesca Bambini  1 , Daniele Alfieri  5 , Walter Bremi  5 , Paolo Facondo  1 , Roberto Lupo  4 , Francesco Bezzi  4 , Micaela Fredi  4 , Anna Maria Mazzola  5 , Elena Gandossi  3 , Maura Saullo  3 , Fiorella Marini  3 , Massimo Licini  1 , Letizia Chiara Pezzaioli  1 , Laura Pini  6 , Franco Franceschini  4 , Chiara Ricci  5 , Carlo Cappelli  1
Affiliations
Observational Study

Autoimmune polyglandular syndrome type 4: experience from a single reference center

Elisa Gatta et al. Front Endocrinol (Lausanne). .

Abstract

Purpose: To characterize patients with APS type 4 among those affected by APS diagnosed and monitored at our local Reference Center for Autoimmune Polyglandular Syndromes.

Methods: Monocentric observational retrospective study enrolling patients affected by APS diagnosed and monitored in a Reference Center. Clinical records were retrieved and analyzed.

Results: 111 subjects (51 males) were affected by APS type 4, mean age at the onset was 23.1 ± 15.1 years. In 15 patients the diagnosis of APS was performed during the first clinical evaluation, in the other 96 after a latency of 11 years (range 1-46). The most frequent diseases were type I diabetes mellitus and celiac disease, equally distributed among sexes.

Conclusions: The prevalence of APS type 4 is 9:100,000 people. Type I diabetes mellitus was the leading indicator of APS type 4 in 78% subjects and in 9% permitted the diagnosis occurring as second manifestation of the syndrome. Our data, showing that 50% of patients developed APS type 4 within the first ten years, don't suggest any particular follow-up time and, more importantly, don't specify any particular disease. It is important to emphasize that 5% of women developed premature ovarian failure.

Keywords: autoimmune diseases; autoimmune polyglandular syndrome; autoimmunity; polyendocrinopathies; type I diabetes mellitus.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Temporal trend of manifestation of the second disease.
Figure 2
Figure 2
Temporal trend of manifestation of the second disease according to the first “trigger” disease.
Figure 3
Figure 3
Developing features of APS in accordance with the first disease.
See this image and copyright information in PMC

References

    1. Orphanet . The portal for rare diseases and orphan drugs. Available at: https://www.orpha.net/. - PMC - PubMed
    1. Husebye ES, MS A, Kämpe O. Autoimmune polyendocrine syndromes. N Engl J Med (2018) 378(12):1132–41. doi: 10.1056/NEJMra1713301 - DOI - PMC - PubMed
    1. Betterle C, Sabbadin C, Scaroni C, Presotto F. Autoimmune polyendocrine syndromes (APS) or multiple autoimmune syndromes (MAS). In: Colao A, Jaffrain-Rea M-L, Beckers A, editors. Polyendocrine disorders and endocrine neoplastic syndromes. Cham: Springer International Publishing; (2019). p. 1–50.
    1. Kahaly GJ, Frommer L. Polyglandular autoimmune syndromes. J Endocrinol Invest (2018) 41(1):91–8. doi: 10.1007/s40618-017-0740-9 - DOI - PubMed
    1. Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann (1980) 9(4):154–62. doi: 10.3928/0090-4481-19800401-07 - DOI - PubMed

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