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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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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. |
format | Online Article Text |
id | pubmed-8720036 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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