title: Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Ashley
authors.initials: A
authors.lastname: Cannon
authors.affiliation: Department of Pain Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Svetlana
authors.identifier: 0000-0002-0616-5960
authors.initials: S
authors.lastname: Kurklinsky
authors.affiliation: The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Kimberly J
authors.initials: KJ
authors.lastname: Guthrie
authors.affiliation: The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
authors.forename: Douglas L
authors.identifier: 0000-0002-6007-4162
authors.initials: DL
authors.lastname: Riegert-Johnson