What causes primary erythromelalgia?

Updated: Sep 17, 2018
  • Author: Antoine N Saliba, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Primary erythromelalgia may be idiopathic or genetic in origin. Early-onset erythromelalgia can show a familial occurrence. Adult-onset erythromelalgia is idiopathic in the majority of cases, although an inherited case has been reported. [15] In the Mayo Clinic series, 3.6% of cases were familial.

Hereditary erythromelalgia is an autosomal dominant disorder caused by gain-of-function mutations in SCN9A, which encodes a voltage-gated sodium channel, subtype Nav1.7. [10, 11, 12, 13, 14] More than 20 SCN9A mutations have been reported in patients with primary erythromelalgia. [16]


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