Key result
Gabapentin plus carbamazepine relieves severe primary erythermalgia in a patient with an SCN9A mutation.
Why the study?
Primary erythermalgia is caused by mutations in the SCN9A gene and treatment options for severely affected patients are limited.
Does the combination of gabapentin and carbamazepine improve symptoms in a patient with primary erythermalgia and an SCN9A mutation?
Case Report (n=1)
Does the combination of gabapentin and carbamazepine improve symptoms in a patient with primary erythermalgia and an SCN9A mutation?
The combination of gabapentin and carbamazepine may be an effective treatment for primary erythermalgia caused by SCN9A mutations.
Case suggests carbamazepine-gabapentin response in SCN9A erythromelalgia; leaves open efficacy confirmation in controlled trials.
Primary erythermalgia (erythromelalgia) is a rare autosomal dominant condition characterized by intermittent attacks of erythema, increased skin temperature and severe burning pain in the extremities, in a bilateral symmetrical distribution. Mutations in the SCN9A gene, which encodes a voltage-gated sodium channel have been shown to cause this disease. We report a family identified to have a mutation in the SCN9A gene, in which one severely affected family member has responded to the therapeutic combination of gabapentin and carbamazepine treatment.
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Natkunarajah et al. (2009) conducted a case report in Primary erythermalgia (erythromelalgia) with SCN9A gene mutation (n=1). Gabapentin and carbamazepine combination was evaluated on Response to treatment. A severely affected patient with primary erythermalgia and an SCN9A gene mutation responded to the therapeutic combination of gabapentin and carbamazepine.
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