1. Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people.
- Author
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Ojardias E, Leman M, Lafaie L, Oriol P, Calmels P, and Celarier T
- Subjects
- Humans, Aged, 80 and over, Male, Receptors, Calcium-Sensing genetics, Mutation, Gout diagnosis, Gout complications, Diagnosis, Differential, Heart Failure etiology, Heart Failure diagnosis, Hypercalcemia diagnosis, Hypercalcemia congenital, Hypercalcemia genetics
- Abstract
Objective: to report a case of familial hypocalciuric hypercalcemia (FHH) in an older patient and highlight the diagnostic challenges in geriatric populations., Case Presentation: We report the diagnosis of FHH in an 88-year-old polypathological patient with hypercalcemia discovered during a check-up for cardiac decompensation. Despite a confusing clinical presentation with gout symptoms, including repeated episodes of knee arthritis, persistent hypercalcemia conducted further investigations. Biological tests excluded primary or hyperparathyroidism and malignancy-related hyperparathyroidism, confirming the diagnosis of FHH through the detection of an inhibitory mutation in the calcium-sensing receptor gene., Conclusion: This case suggests to clinicians the possibility of FHH in older patients with unexplained hypercalcemia. In geriatric patients, the diagnosis is complicated because of the poly-pathology: here hypercalcemia was associated with a confusing gout crisis, which was triggered by diuretic treatment for heart failure.
- Published
- 2025
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