Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people

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 fo...

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Main Authors: Etienne Ojardias, Mélanie Leman, Ludovic Lafaie, Philippe Oriol, Paul Calmels, Thomas Celarier
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:The Aging Male
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Online Access:https://www.tandfonline.com/doi/10.1080/13685538.2024.2436877
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author Etienne Ojardias
Mélanie Leman
Ludovic Lafaie
Philippe Oriol
Paul Calmels
Thomas Celarier
author_facet Etienne Ojardias
Mélanie Leman
Ludovic Lafaie
Philippe Oriol
Paul Calmels
Thomas Celarier
author_sort Etienne Ojardias
collection DOAJ
description 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.
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spelling doaj-art-f8cc40454e094f67b8a957a670e0ce4f2024-12-09T08:40:58ZengTaylor & Francis GroupThe Aging Male1368-55381473-07902025-12-0128110.1080/13685538.2024.2436877Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older peopleEtienne Ojardias0Mélanie Leman1Ludovic Lafaie2Philippe Oriol3Paul Calmels4Thomas Celarier5Clinical Gerontology Department, University Hospital of Saint-Etienne, Saint-Etienne, FranceClinical Gerontology Department, Hospital of Saint-Chamond, Saint-Chamond, FranceClinical Gerontology Department, University Hospital of Saint-Etienne, Saint-Etienne, FranceClinical Gerontology Department, University Hospital of Saint-Etienne, Saint-Etienne, FranceInter-university Laboratory of Human Movement Biology, Saint-Etienne “Jean Monnet” & Lyon 1 & “Savoie Mont-Blanc” universities, Saint-Etienne, FranceClinical Gerontology Department, University Hospital of Saint-Etienne, Saint-Etienne, FranceObjective 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.https://www.tandfonline.com/doi/10.1080/13685538.2024.2436877Hypercalcemiaolder peoplepolypathologyfamilial hypocalciuric hypercalcemia
spellingShingle Etienne Ojardias
Mélanie Leman
Ludovic Lafaie
Philippe Oriol
Paul Calmels
Thomas Celarier
Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
The Aging Male
Hypercalcemia
older people
polypathology
familial hypocalciuric hypercalcemia
title Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
title_full Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
title_fullStr Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
title_full_unstemmed Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
title_short Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
title_sort singular case report of familial hypocalciuric hypercalcemia a rare diagnosis of hypercalcemia in the older people
topic Hypercalcemia
older people
polypathology
familial hypocalciuric hypercalcemia
url https://www.tandfonline.com/doi/10.1080/13685538.2024.2436877
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