The elusive management of an individual patient with SCN9A sodium channelopathy in the perioperative setting
Abstract
Abstract: Mutations in the SCN9A gene, which encodes the sodium voltage-gated channel alpha subunit 9 on chromosome 2 (Nav1.7), are extremely rare and play a crucial role in pain signaling. Depending on the type of mutation, the clinical presentation of these mutations can vary widely from hyperactive pain phenotypes such as primary erythromelalgia to hypoactive pain phenotypes manifesting as congenital insensitivity to pain. Despite multiple descriptions in the literature of pain-associated behaviors in sodium voltage-gated channelopathies, there are no perioperative guidelines in this patient population that can be used to manage pain-associated procedures. Incorporating reported insights from pain literature into an anesthetic plan may improve perioperative patient satisfaction and outcomes. We present a case of a patient with a novel SCN9A mutation (c.3019C>T) who underwent a common surgical procedure and suffered atypical complications. We propose that her SCN9A mutation may have contributed to these sequelae and recommend a greater familiarity with sodium channelopathies-especially those attributed to the SCN9A gene-to improve perioperative management.
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