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Familial episodic pain syndrome

ORPHA:391384· ICD-10 M79.6

Definition

A rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal