Primary erythromelalgia

Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia

NeuroMolecular Medicine ◽

10.1007/s12017-012-8216-8 ◽

2013 ◽

Vol 15 (2) ◽

pp. 265-278 ◽

Cited By ~ 38

Author(s):

Roman Cregg ◽

Bisola Laguda ◽

Robert Werdehausen ◽

James J. Cox ◽

John E. Linley ◽

...

Keyword(s):

Sodium Channel ◽

Clinical Manifestations ◽

Novel Mutations ◽

Primary Erythromelalgia

Download Full-text

Sympathetic Block for Treating Primary Erythromelalgia

The Korean Journal of Pain ◽

10.3344/kjp.2010.23.1.55 ◽

2010 ◽

Vol 23 (1) ◽

pp. 55 ◽

Cited By ~ 7

Author(s):

Yoo Jin Bang ◽

Jin Seok Yeo ◽

Si Oh Kim ◽

Young Hoon Park

Keyword(s):

Sympathetic Block ◽

Primary Erythromelalgia

Download Full-text

Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report

British Journal of Dermatology ◽

10.1111/bjd.16654 ◽

2018 ◽

Vol 179 (3) ◽

pp. 783-784 ◽

Cited By ~ 2

Author(s):

C. Greco ◽

S. Chaumon ◽

M-L. Viallard ◽

C. Bodemer

Keyword(s):

Case Report ◽

Primary Erythromelalgia

Download Full-text

Case of Primary Erythromelalgia in a Child

Clinical Pediatrics ◽

10.1177/000992289203100614 ◽

1992 ◽

Vol 31 (6) ◽

pp. 378-379 ◽

Cited By ~ 2

Author(s):

Krzysztof Strozik ◽

Grzegorz Lis

Keyword(s):

Primary Erythromelalgia

Download Full-text

P38 Clinical pearl: pharmaceutical management of primary erythromelalgia (pe) (scn9a)

Archives of Disease in Childhood ◽

10.1136/archdischild-2017-314585.47 ◽

2018 ◽

Vol 103 (2) ◽

pp. e2.42-e2

Author(s):

William Batten

Keyword(s):

Pain Relief ◽

Sodium Channel ◽

Genetic Mutation ◽

Lower Limbs ◽

Therapeutic Drug ◽

List Type ◽

Voltage Gated Sodium Channel ◽

Voltage Gated ◽

Primary Erythromelalgia ◽

At Home

SituationPatient RL is a 7 year old female with a confirmed genetic diagnosis for Primary Erythromelalgia PE, with a heterozygous sequence change in the SCN9A gene: c.2623C>G, p.(Gln875Glu). This genetic mutation of SCN9A results in sodium chanellopathy specifically for the voltage gated sodium channel Nav1.7. This genetic mutation makes the Nav1.7 channel hypersensitive to stimulus and over activation.1 As a result, she suffers from severe intermittent episodes of bilateral erythema and burning pain of the lower limbs. These symptoms are difficult to manage and PE is also known as ‘man-on-fire syndrome’.1BackgroundPE in a child is a complex diagnosis with severely limited pharmacological treatments available. Inadequate pain relief was achieved with routine analgesics such as paracetamol and ibuprofen. A multidisciplinary team (MDT) approach including pharmacy was implemented with; review of available literature, alternative medications for relief of pain and other PE symptoms, advice on formulation and dosing.OutcomeWhen initially diagnosed, RL was frequently admitted to hospital for uncontrollable and pain and the family were unable to manage at home. Since her diagnosis and full MDT involvement, her pain relief has improved, her hospital admissions have decreased and her family are coping better at home. However, despite pharmacological interventions she is still not entirely free from pain and her other symptoms. Patient RL has also received intensive psychology input for coping strategies in managing her pain, and her parents have received psychological and social input to help them. She is managing to walk more and but still relies on her pushchair. Her current medication regimen is as follows: gabapentin, cetirizine, chlorphenamine, naproxen, paracetamol, clonidine, mexiletine, amitriptyline and topical application of amitriptyline and ketamine. Unsuccessful treatments included: magnesium supplementation, menthol in aqueous cream, lidocaine patches, tramadol and aspirin.Lessons learntThere is little information in the literature on the treatment of paediatric patients with PE and they are mainly case reports. Management of RL has been multidisciplinary with pharmacy playing an important role advising on treatment of anecdotal evidence, dosing and formulation advice, counselling, sourcing amitriptyline and ketamine gel and therapeutic drug monitoring for mexiletine. Future treatments we hope to trial include novel drugs still in development that specifically target the voltage gated sodium channel Nav1.7 such as raxatrigine.ReferenceLawrence J. Nav1.7: A new channel for pain treatment. The Pharmaceutical Journal2016;296:7887. Available from: http://www.pharmaceutical-journal.com/publications/the-pharmaceutical-journal/20200841.article [Accessed: 26 July 2016.

Download Full-text