Familial episodic pain syndrome

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Familial episodic pain syndrome
Other namesFEPS
Analgesics, anti-inflammatory medication.
PrognosisMedium
Frequencyvery rare, around 16 families have been described in medical literature.
Deaths-

Familial episodic pain syndrome, also known simply as FEPS, is a group of rare genetic

physical exercise, fatigue, etc. It may or may not get better with age.[1][2][3]

Types

This disorder is distributed into three types:

FEPS Type 1

This type of familial episodic pain syndrome is characterized by infancy-onset intense and debilitating upper-body episodic pain. It's caused by mutations in the TRPA1 gene, in chromosome 8. It was first described in 2010 by Kremeyer et al. in 21 affected members from a large 4-generation Colombian family. Transmission is autosomal dominant.[4][5]

FEPS Type 2

This type of familial episodic pain syndrome is characterized by adult-onset episodic paroxysmal pain in the distal lower limbs (feet). It's caused by mutations in the

SCN10A gene, in chromosome 3. It was first described in 2012 by Faber et al in a 2-generation family (a man and his son), the proband developed episodic burning, intense pain in his feet at the age of 57 while his son developed it at the age of 39. Transmission is autosomal dominant.[6][7]

FEPS Type 3

This type of familial episodic pain syndrome is characterized by childhood-onset intense episodic pain on the lower and sometimes upper extremities, this pain typically lasts days and can be treated with anti-inflammatory medication, the pain episodes tend to lower in severity with age. It is caused by mutations in the

SCN11A gene, in chromosome 3. It has been described in 13 and 10 members from two large Chinese families and 12 un-related patients. Transmission is autosomal dominant.[8][9]

References

  1. S2CID 240859221
  2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial episodic pain syndrome". www.orpha.net. Retrieved 2022-06-03.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ^ "Familial episodic pain syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-03.
  4. ^ "OMIM Entry - # 615040 - EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1". omim.org. Retrieved 2022-06-03.
  5. PMID 20547126
    .
  6. ^ "OMIM Entry - # 615551 - EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2". www.omim.org. Retrieved 2022-06-03.
  7. PMID 23115331
    .
  8. ^ "OMIM Entry - # 615552 - EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3". www.omim.org. Retrieved 2022-06-03.
  9. PMID 24207120
    .
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