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Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series

Jenny Sun1, Don Daniel Ocay1,2, Meghan Halpin1

  • 1Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.

Children (Basel, Switzerland)
|August 26, 2023
PubMed

Insights

This study describes 42 pediatric erythromelalgia cases, finding a female predominance and common triggers like heat. Genetic analysis identified Nav1.7 sodium channelopathies in some patients, highlighting potential genetic links in pediatric erythromelalgia.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Pain Medicine

Background:

  • Erythromelalgia is characterized by severe burning pain, erythema, and temperature sensitivity in extremities.
  • Existing pediatric case series for erythromelalgia are limited in size.
  • Understanding pediatric erythromelalgia is crucial for diagnosis and management.

Purpose of the Study:

  • To describe the clinical characteristics of pediatric erythromelalgia.
  • To identify associated conditions and treatment responses in children with erythromelalgia.
  • To contribute the largest pediatric erythromelalgia cohort to date.

Main Methods:

  • Retrospective analysis of medical records from 42 pediatric patients diagnosed with erythromelalgia.
  • Data extraction included clinical presentation, associated conditions, and treatment outcomes.
  • Genetic analysis was performed, including investigation of Nav1.7 sodium channelopathies.

Main Results:

  • The cohort showed a female predominance (2.5:1) with a median onset age of 12 years.
  • Most patients (90%) experienced bilateral symptoms, with heat and exercise exacerbating pain.
  • Three patients had confirmed Nav1.7 sodium channelopathies; six more had novel gene candidates under investigation. No single medication was consistently effective.

Conclusions:

  • This study represents the largest pediatric erythromelalgia cohort published to date.
  • Findings align with previous literature, emphasizing the need for further research.
  • Ongoing work includes establishing a prospective cohort and multi-center registry for comprehensive understanding.

Keywords:
erythromelalgiasmall-fiber neuropathysodium channelopathy

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