Overview
Paroxysmal extreme pain disorder (PEPD), formerly known as familial rectal pain syndrome, is an autosomal dominant condition characterized by recurrent episodes of severe pain primarily affecting the rectal, ocular, and jaw regions, often triggered by various stimuli like defecation, cold, or emotional stress. It involves a sodium channelopathy linked to SCN9A mutations 1.Diagnosis
Onset: Neonatal period or infancy, persistent throughout life 1.
Clinical Features: Autonomic symptoms (skin flushing, harlequin color change, tonic attacks), syncope with bradycardia/asystole, and episodic excruciating deep burning pain 1.
Trigger Factors: Defecation, cold exposure, eating, emotional stress 1.
Investigational Tests: No specific diagnostic tests mentioned; clinical history and symptoms are crucial 1.Management
First-Line Treatments: Carbamazepine (dose specifics not detailed in abstract) 1.
Adjunctive Treatments: Additional therapies not specified in the provided abstract 1.Special Populations
Pediatrics: Onset in infancy; management strategies similar to adults but tailored to age-specific considerations 1.
Comorbidities: No specific information on comorbidities provided 1.Key Recommendations
Establish diagnosis based on clinical presentation and family history (Evidence: Expert opinion 1).
Initiate treatment with carbamazepine for symptom management (Evidence: Expert opinion 1).
Monitor and adjust treatment based on individual response and side effects (Evidence: Expert opinion 1).References
1 Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV et al.. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology 2007. link