This case uncovers the intricate relationship between hyperparathyroidism and MEN1 mutation, highlighting tumor progression and management complexities.
A 53-year-old female first presented in 2002 with recurrent renal stones and bone pain, leading to a diagnosis of Primary Hyperparathyroidism (PHPT). She underwent parathyroidectomy in 2006, but persistent symptoms required additional surgeries in 2010 and 2015. Despite these interventions, her condition progressed, and by 2019, she developed chronic kidney disease (CKD5), necessitating hemodialysis. Genetic testing confirmed a MEN1 mutation, prompting further evaluations. In 2020, imaging detected a malignant pancreatic neuroendocrine tumor (pNEN), for which she was started on somatostatin analog therapy. By 2023, she experienced visual disturbances, and an MRI revealed a pituitary macroadenoma compressing the optic chiasm, leading to transsphenoidal tumor resection. In October 2024, she sustained a left femoral neck fracture requiring cemented hemiarthroplasty and was found to have a suprasellar lesion, now under evaluation. By December 2024, she developed an abdominal wall lump, later diagnosed as calciphylaxis, requiring surgical excision in January 2025. Discussion & Conclusion: This case highlights the progressive and multisystemic nature of MEN1, requiring lifelong surveillance and individualized management. Persistent tumor recurrence, endocrine dysfunction, and systemic complications emphasize the need for:Early genetic and biochemical screening for timely intervention.Personalized surgical and medical strategies adapted to disease progression.Lifelong surveillance for tumor recurrence and systemic complications.Multidisciplinary management for comprehensive care.Research into novel therapeutic approaches for improved prognosis. This case underscores the diagnostic and therapeutic complexities of MEN1, emphasizing vigilance, collaboration, and advancements in treatment strategies.
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Haji et al. (2025) studied this question.
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