Key result
Lidocaine, mexiletine, and gabapentin successfully manage primary erythromelalgia in a 12-year-old lacking SCN9A mutations.
Why the study?
Primary erythromelalgia is a rare disorder caused by sodium channel mutations, but treatment guidance is limited and genetic mutations may be absent.
Case Report (n=1)
Sodium channel blockers may be effective for primary erythromelalgia even in the absence of SCN9A mutations.
May support sodium channel blocker trials in SCN9A-negative pediatric erythromelalgia; leaves open confirmation in controlled studies.
Erythromelalgia is a rare disorder characterized by recurrent pain attacks, swelling and redness in the distal extremities. The primary forms of the disorder are caused by mutations in voltage-gated sodium channels. Treatment is difficult and controlled therapeutic studies offer little to no guidance. We report on a 12-year-old boy and his first occurrence of primary erythromelalgia. Genetic findings for mutations in the SCN9A gene, which encodes for the α-subunit of sodium channel NaV1.7, were negative. Although initial treatment with sodium nitroprusside was ineffective, subsequent medication with lidocaine and mexiletine, in combination with gabapentin, was successful. Despite negative findings for mutations in the sodium channels, the use of sodium channel blockers should be considered in these patients.
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Jakob et al. (2011) conducted a case report in Primary erythromelalgia (n=1). Lidocaine and mexiletine, in combination with gabapentin vs. Sodium nitroprusside was evaluated on Treatment success. Treatment with lidocaine and mexiletine, combined with gabapentin, successfully managed primary erythromelalgia in a 12-year-old boy despite negative SCN9A mutations.
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