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
    Image of study
    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.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 182 results

      community Autoimmune disease and balding

      in Update  12 upvotes 6 months ago
      A user diagnosed with Crohn's disease is concerned it might contribute to balding. They have been using keto shampoo, finasteride, and oral minoxidil, which improved their hair but not significantly.

      community Autoimmune issue?

      in Question  2 upvotes 6 years ago
      The user experienced severe hair loss, itchy scalp, and skin issues after trying no-shampoo, and wonders if it's male pattern baldness or an immune issue. They have a history of eczema, dermatitis, and jock itch, and have tried various treatments like coconut oil, peppermint, pumpkin seed, and onion.

      community Fin/dut increase in estrogen and autoimmune diseases

      in Chat  6 upvotes 1 year ago
      The conversation discusses the link between increased estrogen and autoimmune diseases, with a focus on avoiding soy and milk. It also mentions treatments like Minoxidil, finasteride, and RU58841 for hair loss.

      community The Worst Hair Loss Condition You (MAY) have: LPP

      in Research/Science  43 upvotes 3 months ago
      Lichen Planopilaris (LPP) is an autoimmune condition causing permanent hair loss and fibrosis, often misdiagnosed. Treatments include pioglitazone, topical corticosteroids, anti-inflammatory medication, and Jak inhibitors.

      community Treating my DUPA via controlling inflammation

      in Treatment  6 upvotes 10 months ago
      The user has DUPA and suspects autoimmune activity as a cause. They have tried various treatments including finasteride, minoxidil, dutasteride, pyrilutamide, estrogel, hydrocortisone, and clobetasol, and are now seeking a long-term immunosuppressant.

    Similar Research

    5 / 1000+ results