Familial Episodic Pain Syndrome
| Familial Episodic Pain Syndrome | |
|---|---|
| Inheritance | Heterozygous |
| Genetics | FEPS type I - TRPA1, activating FEPS type II - SCNA10A, activating |
| Clinical Features | Familial episodic pain syndrome type I TRPA1 (TRPA1) Heterozygous, activating Onset at birth or in infancy; episodic chest or arm pain; triggers are hunger and cold
Familial episodic pain syndrome type III SCN11A (Nav1.9) Heterozygous, activating Onset in first decade; episodic hand and foot pain; triggers are intercurrent illness or exercise |
Familial episodic pain syndrome (FEPS) encompasses a group of non-inflammatory, paroxysmal pain syndromes primarily affecting the distal extremities. These syndromes can be classified into three types based on the pathogenic gene involved: FEPS1, caused by transient receptor potential cation channel (TRPA1) gene mutation; FEPS2, due to sodium voltage-gated channel alpha subunit 10A (SCN10A) gene mutation; and FEPS3, resulting from sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation. FEPS3 is a particularly rare nerve ion channel disease that typically begins in infancy and is characterized by episodic pain in the distal limbs, with early detection being difficult due to limited symptom expression in infants and young children.
See Also
Channelopathies and Chronic Pain
Literature Review
Literature Review
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