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

Area of Science:

• Endocrinology
• Immunology
• Genetics

Background:

• Autoimmune Polyglandular Syndromes (APS) are rare disorders characterized by autoimmune attacks on endocrine glands.
• APS type 4 is a less common variant, often presenting with a combination of autoimmune diseases.

Purpose of the Study:

• To characterize the clinical features and prevalence of Autoimmune Polyglandular Syndrome type 4 (APS type 4).
• To analyze diagnostic latency and common comorbidities in patients with APS type 4.

Main Methods:

• Retrospective observational study of patients diagnosed and monitored at a specialized Reference Center.
• Analysis of clinical records to identify demographic data, age at onset, diagnostic latency, and associated autoimmune diseases.

Main Results:

• 111 patients with APS type 4 were identified, with a mean age at onset of 23.1 years.
• Type I diabetes mellitus and celiac disease were the most frequent comorbidities.
• A significant diagnostic latency was observed, with 96 out of 111 patients diagnosed after initial presentation.

Conclusions:

• The prevalence of APS type 4 is estimated at 9:100,000.
• Type I diabetes mellitus is a primary indicator for APS type 4, present in 78% of cases.
• The study highlights the importance of recognizing diverse clinical presentations and considering APS type 4 in patients with autoimmune diseases, noting the occurrence of premature ovarian failure in 5% of women.