Background & Aims

Erythromelalgia (EM) is a descriptive term for a rare, chronic pain disorder involving an intense burning sensation, warmth, and erythema, usually affecting the distal extremities, typically worsened by heat and partially relieved by cold [1-3]. With an estimated incidence of 0.25-2 cases per 100,000 per year [4, 5], the rarity of the condition has led to few case series or outcomes studies on pediatric EM, and even fewer with long-term outcomes [3, 6, 7]. Therefore, the ultimate goal is to establish a multi-institutional and multi-disciplinary collaboration to gather retrospective and prospective data, via a registry/repository, on pediatric patients with EM. As initial steps to create this registry, we have set to (a) summarize the current literature on pediatric EM and (b) identify priorities for recognition and management from multiple stakeholders such as clinicians, people with lived experience of pediatric EM, and their family members.

Methods

The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews Checklist was followed for the scoping review [8]. The priority setting project followed the James Lind Alliance Priority-Setting Process [9]. The top 10 research priorities will be identified through 4 phases: 1) An international online survey to gather priorities from stakeholders, including those with lived experience with pediatric erythromelalgia; 2) Data processing of the survey responses; 3) Interim prioritization through another online survey to targeted stakeholders to reduce the list of research questions to be discussed at the priority setting workshop; and 4) A consensus workshop to set the final priorities.

Results

To date, more than 60 individuals, spanning more than 30 institutions across the United States of America, Canada, Australia, and the United Kingdom, and multiple disciplines (anesthesiology, neurology, dermatology, rheumatology, genetics, psychology, nursing, biostatistics, translational research, etc.) were invited to partake in this collaboration. A steering committee of 13 multidisciplinary members, including a patient partner, was elected to drive the collaboration forward. For the scoping review, 3098 articles were imported from 5 online databases. Upon removal of duplicates, 1847 articles were screened leading to 731 full-text articles to be assessed for eligibility. 195 articles were included for data extraction. A collaboration with The Erythromelalgia Association is under discussion regarding the priority setting process.

Conclusions

Results from both of these projects will serve as a foundation for the registry to determine which common data elements will be collected from all institutions and determine which research questions on pediatric EM are priorities for clinicians, patients and their family members.

References

1.Parker, L.K., et al., Clinical features and management of erythromelalgia: long term follow-up of 46 cases. Clin Exp Rheumatol, 2017. 35(1): p. 80-84.
2.Tham, S.W. and M. Giles, Current pain management strategies for patients with erythromelalgia: a critical review. Journal of Pain Research, 2018. 11: p. 1689-1698.
3.Sun, J., et al., Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series. Children, 2023. 10(8): p. 1282.
4.Alhadad, et al., Erythromelalgia: Incidence and clinical experience in a single centre in Sweden. Vasa, 2012. 41(1): p. 43-48.
5.Reed, K.B. and M.D. Davis, Incidence of erythromelalgia: a population-based study in Olmsted County, Minnesota. J Eur Acad Dermatol Venereol, 2009. 23(1): p. 13-5.
6.Arthur, L., et al., Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. J Pediatr, 2019. 206: p. 217-224 e9.
7.Cook-Norris, R.H., et al., Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period. J Am Acad Dermatol, 2012. 66(3): p. 416-23.
8.Tricco, A.C., et al., PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med, 2018. 169(7): p. 467-473.
9.The James Lind Alliance Guidebook Version 10. 2021: The James Lind Alliance, The Wessex Institute, University of Southampton.

Presenting Author

Don Daniel Ocay

Poster Authors

Don Daniel Ocay

PhD

Boston Children's Hospital

Lead Author

E-mail

Maria Graziano Maloney

BA

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital

Lead Author

E-mail

Genevieve D'Souza

Stanford University

Lead Author

E-mail

Catherine Brownstein

PhD

Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital

Lead Author

E-mail

Jacqui Clinch

MRCP

Department of Pediatric Rheumatology, Bristol Royal Hospital for Children

Lead Author

E-mail

Dawn Marie R. Davis

MD

Department of Dermatology and Pediatrics, Mayo Clinic Rochester

Lead Author

E-mail

Deirdre De Ranieri

MD

Division of Rheumatology, Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of

Lead Author

E-mail

Carolina Donado

M.D.

Boston Children's Hospital

Lead Author

E-mail

Meghan Halpin

BS

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital

Lead Author

E-mail

Benjamin Howard Lee

MD

Department of Anesthesiology, Emory University School of Medicine

Lead Author

E-mail

Kimberly Lobo

MS

Boston Children's Hospital

Lead Author

E-mail

Deepa Kattail

MD

Department of Anesthesia and Pain Medicine, The Hospital for Sick Children (SickKids)

Lead Author

E-mail

Danielle Ravetti

The Erythromelalgia Association

Lead Author

E-mail

Paola Sandroni

MD

Department of Neurology, Mayo Clinic Rochester

Lead Author

E-mail

Jennifer Stinson

PhD

SickKids and University of Toronto

Lead Author

E-mail

See Wan Tham

MD

Department of Anesthesiology and Pain Medicine, University of Washington School of Medicine

Lead Author

E-mail

Gary Walco

University of Washington School of Medicine

Lead Author

E-mail

Suellen Walker

UCL GOS Institute of Child Health

Lead Author

E-mail

Charles Berde

MD

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital

Lead Author

E-mail

Topics

  • Informatics, Coding, and Pain Registries

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