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

Author:

Cannon Ashley12,Kurklinsky Svetlana3ORCID,Guthrie Kimberly J.12,Riegert-Johnson Douglas L.12ORCID

Affiliation:

1. The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA

2. Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA

3. Department of Pain Medicine, Mayo Clinic, Jacksonville, FL 32224, USA

Abstract

Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with aSCN9Achannelopathy.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 functionSCN9Amutation by whole exome sequencing. This mutation resulted in anSCN9Achannelopathy 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 ofSCN9Achannelopathy 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 aSCN9Achannelopathy and constipation.

Publisher

Hindawi Limited

Subject

General Medicine

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