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Paroxysmal rectal pain

MedGen UID:
1703798
•Concept ID:
C5139160
•
Sign or Symptom
HPO: HP:0032150

Definition

Excruciating burning pain in the rectal area that may be triggered by defecation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal rectal pain

Recent clinical studies

Etiology

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.
Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, Waxman SG
Mol Pain 2010 Apr 29;6:24. doi: 10.1186/1744-8069-6-24. PMID: 20429905Free PMC Article
Dorsal root ganglia, sodium channels, and fibromyalgia sympathetic pain.
Martinez-Lavin M, Solano C
Med Hypotheses 2009 Jan;72(1):64-6. Epub 2008 Oct 8 doi: 10.1016/j.mehy.2008.07.055. PMID: 18845401
Proctalgia fugax: caused by pudendal neuropathy?
Takano M
Dis Colon Rectum 2005 Jan;48(1):114-20. doi: 10.1007/s10350-004-0736-3. PMID: 15690667

Diagnosis

Case Report of Sotalol Induced IgA Vasculitis.
Mohammed BT, Alchalabi M, Laskova A, Sun C, Lodhi O, Gerais Y, Abdelrahman Alkhidir AG
Curr Rheumatol Rev 2023;19(1):113-119. doi: 10.2174/1573397118666220623105703. PMID: 35747978
Unusual presentation of primary ovarian diffuse large B-cell lymphoma: a case report.
Luo B, He RQ, Peng ZG, Ma J, Feng ZB, Chen G, Zeng JJ
J Ovarian Res 2022 Apr 27;15(1):47. doi: 10.1186/s13048-022-00978-2. PMID: 35477468Free PMC Article
Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain).
Yiangou Y, Facer P, Chessell IP, Bountra C, Chan C, Fertleman C, Smith V, Anand P
Neurosci Lett 2007 Nov 5;427(2):77-82. Epub 2007 Sep 20 doi: 10.1016/j.neulet.2007.09.027. PMID: 17928139
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
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
Proctalgia fugax: caused by pudendal neuropathy?
Takano M
Dis Colon Rectum 2005 Jan;48(1):114-20. doi: 10.1007/s10350-004-0736-3. PMID: 15690667

Therapy

Case Report of Sotalol Induced IgA Vasculitis.
Mohammed BT, Alchalabi M, Laskova A, Sun C, Lodhi O, Gerais Y, Abdelrahman Alkhidir AG
Curr Rheumatol Rev 2023;19(1):113-119. doi: 10.2174/1573397118666220623105703. PMID: 35747978
Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.
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. PMID: 24311784Free PMC Article
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
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
Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.
Bednarek N, Arbuès AS, Motte J, Sabouraud P, Plouin P, Morville P
Epileptic Disord 2005 Dec;7(4):360-2. PMID: 16338680
Treatment of proctalgia fugax with botulinum A toxin.
Katsinelos P, Kalomenopoulou M, Christodoulou K, Katsiba D, Tsolkas P, Pilpilidis I, Papagiannis A, Kapitsinis I, Vasiliadis I, Souparis T
Eur J Gastroenterol Hepatol 2001 Nov;13(11):1371-3. doi: 10.1097/00042737-200111000-00017. PMID: 11692065

Prognosis

Case Report of Sotalol Induced IgA Vasculitis.
Mohammed BT, Alchalabi M, Laskova A, Sun C, Lodhi O, Gerais Y, Abdelrahman Alkhidir AG
Curr Rheumatol Rev 2023;19(1):113-119. doi: 10.2174/1573397118666220623105703. PMID: 35747978

Clinical prediction guides

Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.
Stępień A, Sałacińska D, Staszewski J, Durka-Kęsy M, Dobrogowski J
BMC Neurol 2020 May 13;20(1):182. doi: 10.1186/s12883-020-01770-9. PMID: 32404070Free PMC Article
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
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: 18945915Free PMC Article

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