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 / 290 results

      community Ru58841 completely got rid of my seb derm

      in Chat  6 upvotes 2 years ago
      RU58841 cured seborrheic dermatitis, oily scalp, dandruff, and scalp pain, improving hair health when combined with Minoxidil. Another user noted diet impacts their seborrheic dermatitis and that finasteride hasn't changed their condition.

      community The Truth About DUPA and Retrograde: My Research Summary

      in Research/Science  19 upvotes 1 year ago
      The conversation discusses the importance of scalp biopsies for diagnosing hair loss conditions like DUPA and Retrograde, which may not be just AGA. It emphasizes that treatments like finasteride and dutasteride may not work if the condition is autoimmune.

      community Looking for suggestions on vitamins

      in Female  6 upvotes 1 year ago
      A user is seeking affordable hair vitamins without biotin, already taking zinc and D3+K2, and has been dealing with chronic telogen effluvium since 2013. They previously used Nutrafol Vegan but found it too expensive.
      If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      community If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      by nkrata in Research  830 upvotes 1 year ago
      Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

    Similar Research

    5 / 1000+ results