Case Report

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

Table 3

SCN9A-associated features questionnaire. The responses of the patient described in this case report are shown.

Have you ever had (including early childhood):Yes/noIf yes, at what age did those features begin?If yes, how often (sometimes, often, always)

Seizures No
Rectal painYes45-increased in severityoften
ConstipationYes3always
Sensitivity to cold temperatures Yes51always (likes ambient temperature of 27°C)
Redness and swelling of the hands or feetYes36 (during pregnancy)
Pain during/following tear secretionNo (pain when eyes dry)
Pain during/following flushingNo
Pain during/following sinus congestionYes37sometimes
Pain during/following defecationYes45always
Pain during/following eatingNo
Pain during/following strong emotionsYes53often