Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

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Objective.To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy.Setting.Academic tertiary care center.Design.

Case report.Case Report.A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation Collectors was found to have a gain of function SCN9A mutation by whole exome sequencing.This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder.In addition to the patient hooded towel being diagnosed, four siblings have a clinical diagnosis of SCN9A channelopathy as they have consistent symptoms and a sister with a known mutation.

For treatment, gabapentin was ineffective and carbamazepine was not tolerated.Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback.Conclusion.Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics.Pelvic floor retraining with biofeedback should be considered for patients with a SCN9A channelopathy and constipation.