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Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia

One of the less common causes of hypercalcemia is familial hypocalciuric hypercalcemia (FHH). It is an autosomal-dominant genetic condition, which presents asymptomatically in most patients while some may have mild symptoms. The serum calcium levels are mildly elevated with mild elevation in parathy...

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Autores principales: Kurian, Roshini, Madegowda Chandrashekar, Gagan, Antony, Mc Anto, Chandra, Lakshya, Kant, Ravi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720036/
https://www.ncbi.nlm.nih.gov/pubmed/34993031
http://dx.doi.org/10.7759/cureus.20057
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author Kurian, Roshini
Madegowda Chandrashekar, Gagan
Antony, Mc Anto
Chandra, Lakshya
Kant, Ravi
author_facet Kurian, Roshini
Madegowda Chandrashekar, Gagan
Antony, Mc Anto
Chandra, Lakshya
Kant, Ravi
author_sort Kurian, Roshini
collection PubMed
description One of the less common causes of hypercalcemia is familial hypocalciuric hypercalcemia (FHH). It is an autosomal-dominant genetic condition, which presents asymptomatically in most patients while some may have mild symptoms. The serum calcium levels are mildly elevated with mild elevation in parathyroid hormone, which rarely requires management with pharmacologic agents. We present an unusual case report of a 76-year-old woman, confirmed to have FHH type 1 mutation, presented with symptomatic hypercalcemia probably set off by metabolic stresses of her age and needing intensive treatment with intravenous bisphosphonates, calcitonin and cinacalcet.
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spelling pubmed-87200362022-01-05 Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Kurian, Roshini Madegowda Chandrashekar, Gagan Antony, Mc Anto Chandra, Lakshya Kant, Ravi Cureus Endocrinology/Diabetes/Metabolism One of the less common causes of hypercalcemia is familial hypocalciuric hypercalcemia (FHH). It is an autosomal-dominant genetic condition, which presents asymptomatically in most patients while some may have mild symptoms. The serum calcium levels are mildly elevated with mild elevation in parathyroid hormone, which rarely requires management with pharmacologic agents. We present an unusual case report of a 76-year-old woman, confirmed to have FHH type 1 mutation, presented with symptomatic hypercalcemia probably set off by metabolic stresses of her age and needing intensive treatment with intravenous bisphosphonates, calcitonin and cinacalcet. Cureus 2021-11-30 /pmc/articles/PMC8720036/ /pubmed/34993031 http://dx.doi.org/10.7759/cureus.20057 Text en Copyright © 2021, Kurian et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Kurian, Roshini
Madegowda Chandrashekar, Gagan
Antony, Mc Anto
Chandra, Lakshya
Kant, Ravi
Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title_full Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title_fullStr Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title_full_unstemmed Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title_short Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia
title_sort severe symptomatic hypercalcemia in a patient with familial hypocalciuric hypercalcemia
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720036/
https://www.ncbi.nlm.nih.gov/pubmed/34993031
http://dx.doi.org/10.7759/cureus.20057
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