Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1

    December 2020 in “ Endocrinology, diabetes & metabolism case reports ”
    Joana Lima Ferreira, Francisco Simões de Carvalho, Ana Paula Marques, Rosa Maria Príncipe
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    TLDR A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
    The document discusses a case of Autoimmune polyglandular syndrome type 1 (APS-1), a rare autoimmune disorder characterized by at least two of three main components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and Addison's disease. The case involves a 50-year-old man diagnosed with primary hypoparathyroidism at age 7, who presented with several comorbidities including bilateral cataracts, ocular disorders, transient alopecia, and chronic gastritis. Upon further examination, Addison's disease and CMC were confirmed, and treatment led to clinical improvement. Genetic analysis revealed a frameshift mutation associated with APS-1. This case emphasizes the importance of a thorough clinical history and high suspicion for diagnosing APS-1, especially when hypoparathyroidism and Addison's disease coexist, making management complex. Regular long-term follow-up and proactive communication are crucial for managing APS-1 and its complications.
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