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

Abstract

PurposeTo characterize patients with APS type 4 among those affected by APS diagnosed and monitored at our local Reference Center for Autoimmune Polyglandular Syndromes.MethodsMonocentric observational retrospective study enrolling patients affected by APS diagnosed and monitored in a Reference Center. Clinical records were retrieved and analyzed.Results111 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.ConclusionsThe 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.

Juvenile idiopathic arthritis and primary ovarian failure: a two-sample Mendelian randomization analysis in a mixed-gender cohort

“…Furthermore, a recent retrospective cohort study revealed a strong association between autoimmune thyroid diseases (Hashimoto’s and Grave’s diseases) and diminished ovarian reserve as well as POF ( 22 ). Other studies have also reported a 5% occurrence of POF in women with autoimmune polyglandular syndrome-4 (APS-4) ( 23 ). Additionally, autoimmune diseases such as Addison’s disease and systemic lupus erythematosus (SLE) pose a risk for POF, with SLE carrying a risk ranging from 0.6% to 43% ( 24 ).…”

Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients

“…Apart from a few cohort studies that have described the prevalence of CD in autoimmune polyglandular syndromes, to the best of our knowledge, no systematic assessments of APS prevalence in Italian CD adult patients have been reported so far [15][16][17].…”