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

Front Endocrinol (Lausanne). 2023 Oct 23:14:1236878. doi: 10.3389/fendo.2023.1236878. eCollection 2023.

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.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Adult
  • Celiac Disease* / complications
  • Celiac Disease* / diagnosis
  • Celiac Disease* / epidemiology
  • Child
  • Diabetes Mellitus, Type 1* / epidemiology
  • Female
  • Humans
  • Male
  • Polyendocrinopathies, Autoimmune* / diagnosis
  • Polyendocrinopathies, Autoimmune* / epidemiology
  • Primary Ovarian Insufficiency*
  • Retrospective Studies
  • Syndrome
  • Young Adult