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Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation

Authors Low SA, Robbins W, Tawfik VL

Received 7 December 2016

Accepted for publication 7 February 2017

Published 27 April 2017 Volume 2017:10 Pages 973—977


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Enrica Santarcangelo

Sarah A Low,1 Wendye Robbins,2,3 Vivianne L Tawfik2

1Department of Internal Medicine, Banner University Medical Center, University of Arizona College of Medicine, Tucson, AZ, 2Department of Anesthesiology, Perioperative & Pain Medicine, Stanford University, Palo Alto, 3Blade Therapeutics, South San Francisco, CA, USA

Abstract: A 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 NaV1.7 sodium channel, suggesting a mutation in an alternate gene.

Keywords: erythromelalgia, chronic pain, genetic testing, sodium channels, ketamine

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