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Review
. 2022 Aug 26:15:2505-2515.
doi: 10.2147/JPR.S375299. eCollection 2022.

Familial Episodic Pain Syndromes

Yu Shen  1 , Yilei Zheng  1 , Daojun Hong  1   2
Affiliations
Review

Familial Episodic Pain Syndromes

Yu Shen et al. J Pain Res. .

Abstract

Over the past decades, advances in genetic sequencing have opened a new world of discovery of causative genes associated with numerous pain-related syndromes. Familial episodic pain syndromes (FEPS) are one of the distinctive syndromes characterized by early-childhood onset of severe episodic pain mainly affecting the distal extremities and tend to attenuate or diminish with age. According to the phenotypic and genetic properties, FEPS at least includes four subtypes of FEPS1, FEPS2, FEPS3, and FEPS4, which are caused by mutations in the TRPA1, SCN10A, SCN11A, and SCN9A genes, respectively. Functional studies have revealed that all missense mutations in these genes are closely associated with the gain-of-function of cation channels. Because some FEPS patients may show a relative treatability and favorable prognosis, it is worth paying attention to the diagnosis and management of FEPS as early as possible. In this review, we state the common clinical manifestations, pathogenic mechanisms, and potential therapies of the disease, and provide preliminary opinions about future research for FEPS.

Keywords: dorsal root ganglia; familial episodic pain syndromes; nociceptive pain; transient receptor potential A1; voltage-gated sodium channel.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Schematic representation of the TRPA1 channel. The variant associated with represents as p.N855 in putative transmembrane S4.
Figure 2
Figure 2
Schematic representation of the Nav1.8 channel. The positions of variants p.L544P and p.A1304T associated with FEPS2 are illustrated.
Figure 3
Figure 3
Schematic representation of the Nav1.9 channel. All variants associated with FEPS3 are marked in the framework.
Figure 4
Figure 4
Schematic representation of the Nav1.7 channel. The variant related to FEPS4 is labeled in the N-terminus.
See this image and copyright information in PMC

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