Overview
Polyglandular autoimmune syndrome, type 1 (PAS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, is a rare autosomal recessive disorder characterized by the development of multiple autoimmune endocrine gland failures, often accompanied by chronic mucocutaneous candidiasis and ectodermal dystrophy 1. It is caused by mutations in the AIRE gene 1.Diagnosis
Diagnosis is typically based on a combination of clinical features and genetic testing 1.
Key clinical features include chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenal insufficiency 1.
Other associated autoimmune conditions may include type 1 diabetes mellitus, autoimmune thyroid disease, and gonadal failure 1.
Genetic testing for mutations in the AIRE* gene can confirm the diagnosis 1.Management
Management is primarily supportive and involves lifelong hormone replacement therapy for endocrine deficiencies 1.
Treatment for hypoparathyroidism includes calcium and vitamin D supplementation 1.
Adrenal insufficiency requires glucocorticoid and mineralocorticoid replacement 1.
Management of candidiasis may involve topical or systemic antifungal agents 1.Special Populations
No specific information regarding special populations was provided in the abstracts.Key Recommendations
Diagnosis of PAS-1 should be considered in individuals presenting with chronic mucocutaneous candidiasis and/or autoimmune endocrine deficiencies 1. (Evidence: Weak)
Genetic testing for AIRE gene mutations is recommended for definitive diagnosis of PAS-1 1. (Evidence: Weak)
Management of PAS-1 requires lifelong hormone replacement therapy tailored to the specific endocrine deficiencies present 1. (Evidence: Weak)References
1 Young I, Prematunge C, Pussegoda K, Corrin T, Waddell L. Tick exposures and alpha-gal syndrome: A systematic review of the evidence. Ticks and tick-borne diseases 2021. link