Cargando…
Pain triangle phenomenon in possible association with SCN9A: A case report
BACKGROUND: Voltage‐gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Na(v)1.7, encoded by the SCN9A‐gene, has been of special interest in the last decades because missense gain‐of‐function mutations have been linked to a...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544215/ https://www.ncbi.nlm.nih.gov/pubmed/36114697 http://dx.doi.org/10.1002/mgg3.2026 |
_version_ | 1784804549409636352 |
---|---|
author | Sopacua, Maurice Hoeijmakers, Janneke G. J. van der Kooi, Anneke J. Merkies, Ingemar S. J. Faber, Catharina G. |
author_facet | Sopacua, Maurice Hoeijmakers, Janneke G. J. van der Kooi, Anneke J. Merkies, Ingemar S. J. Faber, Catharina G. |
author_sort | Sopacua, Maurice |
collection | PubMed |
description | BACKGROUND: Voltage‐gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Na(v)1.7, encoded by the SCN9A‐gene, has been of special interest in the last decades because missense gain‐of‐function mutations have been linked to a spectrum of neuropathic pain conditions, including inherited erythermalgia (IEM), paroxysmal extreme pain disorder (PEPD), and small fiber neuropathy (SFN). METHODS: In this case report, we present a 61‐year‐old woman who was referred to our tertiary referral center in a standard day care setting with suspicion of SFN. We performed additional investigations: skin biopsy to determine the intra‐epidermal nerve fiber density (IENFD), quantitative sensory testing (QST), and blood examination (including DNA analysis) for possible underlying conditions. RESULTS: The patient showed a clinical picture that fulfilled the criteria of IEM, PEPD, and SFN. DNA analysis revealed the heterozygous variant c.554G > A in the SCN9A‐gene (OMIM 603415). This variant has already been described in all three human pain conditions separately, but never in one patient having symptoms of all three conditions. Because its pathogenicity has never been functionally confirmed, the variant is classified as a variance of unknown significance (VUS)/risk factor. This suggests that another genetic and/or environmental substrate plays a role in the development of neuropathic conditions like described. CONCLUSION: We have described this as the SCN9A‐pain triangle phenomenon. Treatment should focus on pain management, genetic counseling, and improving/maintaining quality of life by treating symptoms and, if indicated, starting a rehabilitation program. |
format | Online Article Text |
id | pubmed-9544215 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95442152022-10-14 Pain triangle phenomenon in possible association with SCN9A: A case report Sopacua, Maurice Hoeijmakers, Janneke G. J. van der Kooi, Anneke J. Merkies, Ingemar S. J. Faber, Catharina G. Mol Genet Genomic Med Clinical Reports BACKGROUND: Voltage‐gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Na(v)1.7, encoded by the SCN9A‐gene, has been of special interest in the last decades because missense gain‐of‐function mutations have been linked to a spectrum of neuropathic pain conditions, including inherited erythermalgia (IEM), paroxysmal extreme pain disorder (PEPD), and small fiber neuropathy (SFN). METHODS: In this case report, we present a 61‐year‐old woman who was referred to our tertiary referral center in a standard day care setting with suspicion of SFN. We performed additional investigations: skin biopsy to determine the intra‐epidermal nerve fiber density (IENFD), quantitative sensory testing (QST), and blood examination (including DNA analysis) for possible underlying conditions. RESULTS: The patient showed a clinical picture that fulfilled the criteria of IEM, PEPD, and SFN. DNA analysis revealed the heterozygous variant c.554G > A in the SCN9A‐gene (OMIM 603415). This variant has already been described in all three human pain conditions separately, but never in one patient having symptoms of all three conditions. Because its pathogenicity has never been functionally confirmed, the variant is classified as a variance of unknown significance (VUS)/risk factor. This suggests that another genetic and/or environmental substrate plays a role in the development of neuropathic conditions like described. CONCLUSION: We have described this as the SCN9A‐pain triangle phenomenon. Treatment should focus on pain management, genetic counseling, and improving/maintaining quality of life by treating symptoms and, if indicated, starting a rehabilitation program. John Wiley and Sons Inc. 2022-09-16 /pmc/articles/PMC9544215/ /pubmed/36114697 http://dx.doi.org/10.1002/mgg3.2026 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Clinical Reports Sopacua, Maurice Hoeijmakers, Janneke G. J. van der Kooi, Anneke J. Merkies, Ingemar S. J. Faber, Catharina G. Pain triangle phenomenon in possible association with SCN9A: A case report |
title | Pain triangle phenomenon in possible association with SCN9A: A case report |
title_full | Pain triangle phenomenon in possible association with SCN9A: A case report |
title_fullStr | Pain triangle phenomenon in possible association with SCN9A: A case report |
title_full_unstemmed | Pain triangle phenomenon in possible association with SCN9A: A case report |
title_short | Pain triangle phenomenon in possible association with SCN9A: A case report |
title_sort | pain triangle phenomenon in possible association with scn9a: a case report |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544215/ https://www.ncbi.nlm.nih.gov/pubmed/36114697 http://dx.doi.org/10.1002/mgg3.2026 |
work_keys_str_mv | AT sopacuamaurice paintrianglephenomenoninpossibleassociationwithscn9aacasereport AT hoeijmakersjannekegj paintrianglephenomenoninpossibleassociationwithscn9aacasereport AT vanderkooiannekej paintrianglephenomenoninpossibleassociationwithscn9aacasereport AT merkiesingemarsj paintrianglephenomenoninpossibleassociationwithscn9aacasereport AT fabercatharinag paintrianglephenomenoninpossibleassociationwithscn9aacasereport |