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

Abstract EN

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 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 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.