Clinical characterization of pediatric erythromelalgia
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Citation
Abstract
BACKGROUND: Erythromelalgia is a rare pain disorder characterized by erythema, warmth, and burning pain exacerbated by heat and improved by cold. Symptoms tend to be bilateral and symmetrical in the distal extremities. Erythromelalgia can present as inherited, idiopathic, or secondary to underlying conditions. The etiology is incompletely understood, with current research having identified mutations in SCN9A encoding for Nav1.7 channels as a primary cause for inherited forms, although other genetic mutations are gradually being elucidated. Treatment efficacy is variable and typically involves polypharmacy combined with approaches to avoid triggering pain. As there are currently no established guidelines for the clinical diagnosis of erythromelalgia, evaluation centers around the narrative descriptions of symptoms and the overall clinical picture. Currently published research is limited to small samples, especially in pediatric populations.
OBJECTIVE: To characterize the clinical phenotypes and sensory profiles of pediatric patients with erythromelalgia, investigate other associated underlying conditions, and identify the currently administered treatments.
METHODS: Data from electronic health records in PowerChart and outside records were consolidated into an Excel spreadsheet. The sample was selected from participants with erythromelalgia that were already enrolled and consented as part of the Manton gene discovery protocol in collaboration with Boston Children’s Hospital.
RESULTS: Forty-two pediatric patients were included in this retrospective cross-sectional review. There was a female predominance (2.3:1) and most patients saw more than one specialist before receiving a diagnosis. The majority reported bilateral symptoms and presented with a wide range of other chronic conditions. Cooling methods were most helpful for symptom relief, while heat and exercise exacerbated pain symptoms. Most patients utilized polypharmacy with no clear consensus on a single effective treatment.
CONCLUSIONS: Many findings from this pediatric study are consistent with those noted in previous published case series. The observations of this study are subject to variation in differences between adult and pediatric populations, including the presentation of various forms of erythromelalgia. Findings may be limited by electronic health record system design, clinician idiosyncrasies of encounter notes, and patient loss to follow-up. Based on the currently published literature, we believe this cohort to the largest pediatric study of erythromelalgia to date.