What should be considered to avoid delayed management of parathyroid adenoma: a case report
Merita E. Sadiku, Zana Vela Gaxha, Granit Xhiha, Adem Rama, Nadije M. Kuci, Ardiana P. BegolliIntroduction and importance:
Parathyroid adenoma often remains undiagnosed for a prolonged period, primarily due to its non-specific clinical presentation. Patients frequently seek treatment from non-endocrinological specialists for symptoms such as bone pain and musculoskeletal discomfort, which may delay appropriate diagnosis and management.
Case presentation:
We report the case of a 46-year-old patient with a 2-year history of diffuse pain in both the upper and lower limbs. He had been managed by a rheumatologist with a diagnosis of polyarthralgia, with no clinical improvement despite treatment. The turning point in the diagnostic process occurred when the patient consulted a neurologist for persistent headaches. On physical examination, a palpable mass was noted in the lower anterior neck. Subsequent ultrasound imaging revealed a suspicious nodule, prompting referral to an endocrinologist. Comprehensive laboratory and imaging evaluations demonstrated markedly elevated parathyroid hormone (PTH) and serum calcium levels, bilateral nephrocalcinosis, significant osteoporosis, compression fractures of the lumbar vertebrae, and diffuse osteolytic bone lesions. Parathyroid scintigraphy confirmed the presence of a parathyroid adenoma. On physical examination, the patient exhibited a characteristic waddling gait, attributed to lumbar vertebral fractures and proximal muscle weakness secondary to primary hyperparathyroidism (PHPT). The patient underwent surgical excision of the adenoma and experienced rapid and substantial clinical improvement postoperatively.
Clinical discussion:
The presentation highlights how PHPT may remain unrecognized in settings where nonspecific bone and mood symptoms are attributed to rheumatologic or orthopedic conditions, and how osteolytic changes may be misinterpreted as metastatic disease. In this patient, lumbar fragility fractures, severe vitamin D deficiency, myopathy, and depression were driven by sustained hypercalcemia and elevated PTH levels, ultimately traced to a parathyroid adenoma. The case underscores the importance of early consideration of PHPT in patients with unexplained bone pain, gait impairment, or neuropsychiatric symptoms.
Conclusion:
This case emphasizes that PHPT should be considered in patients with persistent bone pain, muscle weakness, hypercalcemia, and elevated PTH, particularly when gait abnormalities are present. Early diagnosis and surgical treatment are essential, as timely management typically leads to full recovery and a low risk of recurrence.