Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation
AffiliationUniv Arizona, Coll Med, Dept Internal Med, Banner Univ Med Ctr
MetadataShow full item record
PublisherDOVE MEDICAL PRESS LTD
CitationComplex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation 2017, Volume 10:973 Journal of Pain Research
JournalJournal of Pain Research
Rights© 2017 Low et al. This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms. php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/).
Collection InformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at firstname.lastname@example.org.
AbstractA 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient. Genetic testing was negative for an EM-associated mutation in the SCN9A gene, encoding the Na(V)1.7 sodium channel, suggesting a mutation in an alternate gene.
NoteOpen Access Journal
VersionFinal published version
SponsorsFoundation for Anesthesia Education and Research (FAER)
- Autonomic dysfunction in SCN9A-associated primary erythromelalgia.
- Authors: Kim MK, Yuk JW, Kim HS, Park KJ, Kim DS
- Issue date: 2013 Apr
- Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.
- Authors: Han C, Lampert A, Rush AM, Dib-Hajj SD, Wang X, Yang Y, Waxman SG
- Issue date: 2007 Jan 19
- Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
- Authors: McDonnell A, Schulman B, Ali Z, Dib-Hajj SD, Brock F, Cobain S, Mainka T, Vollert J, Tarabar S, Waxman SG
- Issue date: 2016 Apr
- Primary erythromelalgia: a review.
- Authors: Tang Z, Chen Z, Tang B, Jiang H
- Issue date: 2015 Sep 30
- <i>SCN9A</i>-Related Inherited Erythromelalgia
- Authors: Hisama FM, Dib-Hajj SD, Waxman SG, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A
- Issue date: 1993