Whitaker Syndrome: A Case Report of Autoimmune Polyendocrine Syndrome Type 1 With Dilated Cardiomyopathy

    September 2024 in “ Clinical Case Reports
    Gohar Ali, Bilal Ahmed, Shahroz Azhar, Aqsa Iqbal, Ali Usman, Muhammad Husnain Ahmad, Masab Ali, Muhammad Jawaid
    TLDR Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
    This case report describes a 28-year-old male with autoimmune polyendocrine syndrome type 1 (APS-1), also known as Whitaker syndrome, who presented with dilated cardiomyopathy (DCM) as a cardiovascular complication. APS-1 is a rare disorder caused by mutations in the AIRE gene, leading to symptoms such as alopecia, absence of eyebrows, hyperpigmentation, and nail dystrophy. The patient's condition included hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. Treatment with diuretics, antiepileptic drugs, and supplements improved symptoms. The report highlights the importance of early recognition and a multidisciplinary approach to manage APS-1 effectively, especially given the rare but significant cardiovascular complications.
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