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Paroxysmal extreme pain disorder(PEXPD)

MedGen UID:
331565
Concept ID:
C1833661
Disease or Syndrome
Synonyms: PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; PEXPD; RECTAL PAIN, FAMILIAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Familial rectal pain (699190008); Submandibular, ocular and rectal pain with flushing (699190008); Paroxysmal extreme pain disorder (699190008)
 
Gene (location): SCN9A (2q24.3)
OMIM®: 167400
Orphanet: ORPHA46348

Definition

Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. Onset is usually in the neonatal period or infancy (Fertleman et al., 2006). [from OMIM]

Additional description

From GHR
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea). As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks. Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.  http://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder

Clinical features

Mandibular pain
MedGen UID:
506555
Concept ID:
CN117766
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
Ocular pain
MedGen UID:
506556
Concept ID:
CN117767
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Mandibular pain
MedGen UID:
506555
Concept ID:
CN117766
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Pathologic Function
Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased.
Bradycardia
MedGen UID:
776586
Concept ID:
C2712029
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGParoxysmal extreme pain disorder
Follow this link to review classifications for Paroxysmal extreme pain disorder in Orphanet.

Recent clinical studies

Etiology

Bennett DL, Woods CG
Lancet Neurol 2014 Jun;13(6):587-99. Epub 2014 May 6 doi: 10.1016/S1474-4422(14)70024-9. [Epub ahead of print] PMID: 24813307
Themistocleous AC, Ramirez JD, Serra J, Bennett DL
Pract Neurol 2014 Dec;14(6):368-79. Epub 2014 Apr 28 doi: 10.1136/practneurol-2013-000758. [Epub ahead of print] PMID: 24778270Free PMC Article
Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ
J Neurol Neurosurg Psychiatry 2013 Apr;84(4):386-91. Epub 2012 Nov 5 doi: 10.1136/jnnp-2012-303719. [Epub ahead of print] PMID: 23129781Free PMC Article
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. [Epub ahead of print] PMID: 22348792Free PMC Article
Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R
Hum Mutat 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325. PMID: 20635406Free PMC Article

Diagnosis

Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Meglič A, Perkovič-Benedik M, Trebušak Podkrajšek K, Bertok S
Pediatr Nephrol 2014 Sep;29(9):1643-6. Epub 2014 May 12 doi: 10.1007/s00467-014-2819-2. [Epub ahead of print] PMID: 24817410
Theile JW, Jarecki BW, Piekarz AD, Cummins TR
J Physiol 2011 Feb 1;589(Pt 3):597-608. Epub 2010 Nov 29 doi: 10.1113/jphysiol.2010.200915. [Epub ahead of print] PMID: 21115638Free PMC Article
Choi JS, Boralevi F, Brissaud O, Sánchez-Martín J, Te Morsche RH, Dib-Hajj SD, Drenth JP, Waxman SG
Nat Rev Neurol 2011 Jan;7(1):51-5. Epub 2010 Nov 16 doi: 10.1038/nrneurol.2010.162. [Epub ahead of print] PMID: 21079636
Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutières F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB
Neurology 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f. PMID: 17679678

Therapy

Meglič A, Perkovič-Benedik M, Trebušak Podkrajšek K, Bertok S
Pediatr Nephrol 2014 Sep;29(9):1643-6. Epub 2014 May 12 doi: 10.1007/s00467-014-2819-2. [Epub ahead of print] PMID: 24817410
Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Hühne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A
J Biol Chem 2014 Jan 24;289(4):1971-80. Epub 2013 Dec 5 doi: 10.1074/jbc.M113.502211. [Epub ahead of print] PMID: 24311784Free PMC Article
Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M
Neuromolecular Med 2013 Jun;15(2):265-78. Epub 2013 Jan 6 doi: 10.1007/s12017-012-8216-8. [Epub ahead of print] PMID: 23292638Free PMC Article
Goldberg YP, Pimstone SN, Namdari R, Price N, Cohen C, Sherrington RP, Hayden MR
Clin Genet 2012 Oct;82(4):367-73. Epub 2012 Aug 13 doi: 10.1111/j.1399-0004.2012.01942.x. [Epub ahead of print] PMID: 22845492
Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutières F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB
Neurology 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f. PMID: 17679678

Prognosis

Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Cross JH
Semin Fetal Neonatal Med 2013 Aug;18(4):192-5. Epub 2013 Apr 30 doi: 10.1016/j.siny.2013.04.003. [Epub ahead of print] PMID: 23642846
Dabby R, Sadeh M, Gilad R, Lampl Y, Cohen S, Inbar S, Leshinsky-Silver E
J Neurol Sci 2011 Feb 15;301(1-2):90-2. Epub 2010 Nov 20 doi: 10.1016/j.jns.2010.10.006. [Epub ahead of print] PMID: 21094958
Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, Drenth JP, Dai F, Wheeler J, Sanders F, Wood L, Wu TX, Karppinen J, Nikolajsen L, Männikkö M, Max MB, Kiselycznyk C, Poddar M, Te Morsche RH, Smith S, Gibson D, Kelempisioti A, Maixner W, Gribble FM, Woods CG
Proc Natl Acad Sci U S A 2010 Mar 16;107(11):5148-53. Epub 2010 Mar 8 doi: 10.1073/pnas.0913181107. [Epub ahead of print] PMID: 20212137Free PMC Article
Samuels ME, te Morsche RH, Lynch ME, Drenth JP
Mol Pain 2008 Jun 2;4:21. doi: 10.1186/1744-8069-4-21. [Epub ahead of print] PMID: 18518989Free PMC Article

Clinical prediction guides

Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. [Epub ahead of print] PMID: 22348792Free PMC Article
Theile JW, Cummins TR
Mol Pharmacol 2011 Oct;80(4):724-34. Epub 2011 Jul 25 doi: 10.1124/mol.111.072751. [Epub ahead of print] PMID: 21788423Free PMC Article
Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG
J Neurosci 2008 Oct 22;28(43):11079-88. doi: 10.1523/JNEUROSCI.3443-08.2008. PMID: 18945915
Jarecki BW, Sheets PL, Jackson JO 2nd, Cummins TR
J Physiol 2008 Sep 1;586(Pt 17):4137-53. Epub 2008 Jul 3 doi: 10.1113/jphysiol.2008.154906. [Epub ahead of print] PMID: 18599537Free PMC Article

Recent systematic reviews

Themistocleous AC, Ramirez JD, Serra J, Bennett DL
Pract Neurol 2014 Dec;14(6):368-79. Epub 2014 Apr 28 doi: 10.1136/practneurol-2013-000758. [Epub ahead of print] PMID: 24778270Free PMC Article

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