Paroxysmal Extreme Pain Disorder

Paroxysmal Extreme Pain Disorder

Paroxysmal extreme pain disorder (PEPD) is a rare, genetic mutation disorder characterised by severe, episodic pain primarily affecting the rectum, ocular, and mandibular regions. Provoked by minor stimuli like temperature changes, PEPD often accompanies an autonomic component, such as flushing. Diagnosis typically involves genetic testing, and treatments focus on managing symptoms and pain relief.