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Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome

Fibrous dysplasia (FD) is a rare, non-inherited bone disease occurring following a somatic gain-of-function R201 missense mutation of the guanine-nucleotide binding protein alpha subunit stimulating activity polypeptide 1 (GNAS) gene. The spectrum of the disease ranges from a single FD lesion to a c...

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Autores principales: Tucker-Bartley, Anthony, Selen, Daryl J., Golden, Emma, van Gool, Raquel, Ebb, David, Mannstadt, Michael, Upadhyay, Jaymin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916440/
https://www.ncbi.nlm.nih.gov/pubmed/36768871
http://dx.doi.org/10.3390/ijms24032550
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author Tucker-Bartley, Anthony
Selen, Daryl J.
Golden, Emma
van Gool, Raquel
Ebb, David
Mannstadt, Michael
Upadhyay, Jaymin
author_facet Tucker-Bartley, Anthony
Selen, Daryl J.
Golden, Emma
van Gool, Raquel
Ebb, David
Mannstadt, Michael
Upadhyay, Jaymin
author_sort Tucker-Bartley, Anthony
collection PubMed
description Fibrous dysplasia (FD) is a rare, non-inherited bone disease occurring following a somatic gain-of-function R201 missense mutation of the guanine-nucleotide binding protein alpha subunit stimulating activity polypeptide 1 (GNAS) gene. The spectrum of the disease ranges from a single FD lesion to a combination with extraskeletal features; an amalgamation with café-au-lait skin hyperpigmentation, precocious puberty, and other endocrinopathies defines McCune–Albright Syndrome (MAS). Pain in FD/MAS represents one of the most prominent aspects of the disease and one of the most challenging to treat—an outcome driven by (i) the heterogeneous nature of FD/MAS, (ii) the variable presentation of pain phenotypes (i.e., craniofacial vs. musculoskeletal pain), (iii) a lack of studies probing pain mechanisms, and (iv) a lack of rigorously validated analgesic strategies in FD/MAS. At present, a range of pharmacotherapies are prescribed to patients with FD/MAS to mitigate skeletal disease activity, as well as pain. We analyze evidence guiding the current use of bisphosphonates, denosumab, and other therapies in FD/MAS, and also discuss the potential underlying pharmacological mechanisms by which pain relief may be achieved. Furthermore, we highlight the range of presentation of pain in individual cases of FD/MAS to further describe the difficulties associated with employing effective pain treatment in FD/MAS. Potential next steps toward identifying and validating effective pain treatments in FD/MAS are discussed, such as employing randomized control trials and probing new pain pathways in this rare bone disease.
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spelling pubmed-99164402023-02-11 Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome Tucker-Bartley, Anthony Selen, Daryl J. Golden, Emma van Gool, Raquel Ebb, David Mannstadt, Michael Upadhyay, Jaymin Int J Mol Sci Review Fibrous dysplasia (FD) is a rare, non-inherited bone disease occurring following a somatic gain-of-function R201 missense mutation of the guanine-nucleotide binding protein alpha subunit stimulating activity polypeptide 1 (GNAS) gene. The spectrum of the disease ranges from a single FD lesion to a combination with extraskeletal features; an amalgamation with café-au-lait skin hyperpigmentation, precocious puberty, and other endocrinopathies defines McCune–Albright Syndrome (MAS). Pain in FD/MAS represents one of the most prominent aspects of the disease and one of the most challenging to treat—an outcome driven by (i) the heterogeneous nature of FD/MAS, (ii) the variable presentation of pain phenotypes (i.e., craniofacial vs. musculoskeletal pain), (iii) a lack of studies probing pain mechanisms, and (iv) a lack of rigorously validated analgesic strategies in FD/MAS. At present, a range of pharmacotherapies are prescribed to patients with FD/MAS to mitigate skeletal disease activity, as well as pain. We analyze evidence guiding the current use of bisphosphonates, denosumab, and other therapies in FD/MAS, and also discuss the potential underlying pharmacological mechanisms by which pain relief may be achieved. Furthermore, we highlight the range of presentation of pain in individual cases of FD/MAS to further describe the difficulties associated with employing effective pain treatment in FD/MAS. Potential next steps toward identifying and validating effective pain treatments in FD/MAS are discussed, such as employing randomized control trials and probing new pain pathways in this rare bone disease. MDPI 2023-01-29 /pmc/articles/PMC9916440/ /pubmed/36768871 http://dx.doi.org/10.3390/ijms24032550 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Tucker-Bartley, Anthony
Selen, Daryl J.
Golden, Emma
van Gool, Raquel
Ebb, David
Mannstadt, Michael
Upadhyay, Jaymin
Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title_full Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title_fullStr Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title_full_unstemmed Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title_short Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome
title_sort pharmacological interventions targeting pain in fibrous dysplasia/mccune–albright syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916440/
https://www.ncbi.nlm.nih.gov/pubmed/36768871
http://dx.doi.org/10.3390/ijms24032550
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