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Hereditary periodic fever syndrome

MedGen UID:
199651
Concept ID:
C0751422
Disease or Syndrome
Synonyms: Autoinflammation Disease, Hereditary; Autoinflammation Diseases, Hereditary; Autoinflammatory Disease, Hereditary; Autoinflammatory Diseases, Hereditary; Disease, Hereditary Autoinflammation; Disease, Hereditary Autoinflammatory; Disease, Reimann Periodic; Disease, Siegal-Cattan-Mamou; Diseases, Hereditary Autoinflammation; Diseases, Hereditary Autoinflammatory; Diseases, Reimann Periodic; Fever, Hereditary Recurrent; Fevers, Hereditary Recurrent; Hereditary Autoinflammation Disease; Hereditary Autoinflammation Diseases; Hereditary Autoinflammatory Disease; Hereditary Autoinflammatory Diseases; Hereditary Periodic Fever Syndromes; Hereditary Recurrent Fever; Hereditary Recurrent Fevers; Periodic Disease, Reimann; Periodic Diseases, Reimann; Recurrent Fever, Hereditary; Recurrent Fevers, Hereditary; Reimann Periodic Disease; Reimann Periodic Diseases; Siegal Cattan Mamou Disease; Siegal-Cattan-Mamou Disease
SNOMED CT: Hereditary periodic fever (402790006)
 
Monarch Initiative: MONDO:0017953
Orphanet: ORPHA324924

Definition

An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Bettiol A, Alibaz-Oner F, Direskeneli H, Hatemi G, Saadoun D, Seyahi E, Prisco D, Emmi G
Nat Rev Rheumatol 2023 Feb;19(2):111-126. Epub 2022 Dec 21 doi: 10.1038/s41584-022-00880-7. PMID: 36544027
Karadag O, Bolek EC
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii108-iii117. doi: 10.1093/rheumatology/keaa086. PMID: 32348509
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962

Recent clinical studies

Etiology

Vitale A, Rigante D, Lucherini OM, De Palma A, Orlando I, Gentileschi S, Sota J, Simpatico A, Fabiani C, Galeazzi M, Frediani B, Cantarini L
Intern Emerg Med 2017 Aug;12(5):605-611. Epub 2017 Feb 13 doi: 10.1007/s11739-017-1622-z. PMID: 28194697
Polat K, Uysal IO, Senel S, Güler C, Durmuş K, Müderris S
Eur Arch Otorhinolaryngol 2013 Nov;270(11):2871-4. Epub 2013 Jan 11 doi: 10.1007/s00405-013-2347-x. PMID: 23306349
Ruiz XD, Gadea CM
Conn Med 2011 Jan;75(1):17-9. PMID: 21329287
Hurst M, Hull K, Nicholls D, Ameratunga R
J Clin Rheumatol 2005 Dec;11(6):329-30. doi: 10.1097/01.rhu.0000195106.34348.59. PMID: 16371805
Aróstegui JI, Solís P, Aldea A, Cantero T, Rius J, Bahíllo P, Plaza S, Vives J, Gómez S, Yagüe J
Eur J Pediatr 2005 Jan;164(1):13-6. Epub 2004 Nov 10 doi: 10.1007/s00431-004-1563-1. PMID: 15549379

Diagnosis

Davidson A, Kuller JA, Dotters-Katz SK, Wood RL
Obstet Gynecol Surv 2024 Oct;79(10):611-616. doi: 10.1097/OGX.0000000000001316. PMID: 39437379
Schmidt J, Berghaus S, Blessing F, Herbeck H, Blessing J, Schierack P, Rödiger S, Roggenbuck D, Wenzel F
PLoS One 2022;17(3):e0265622. Epub 2022 Mar 17 doi: 10.1371/journal.pone.0265622. PMID: 35298548Free PMC Article
Vitale A, Rigante D, Lucherini OM, De Palma A, Orlando I, Gentileschi S, Sota J, Simpatico A, Fabiani C, Galeazzi M, Frediani B, Cantarini L
Intern Emerg Med 2017 Aug;12(5):605-611. Epub 2017 Feb 13 doi: 10.1007/s11739-017-1622-z. PMID: 28194697
Sahan C, Cengiz K
Acta Clin Belg 2006 May-Jun;61(3):147-51. doi: 10.1179/acb.2006.024. PMID: 16881565
Hurst M, Hull K, Nicholls D, Ameratunga R
J Clin Rheumatol 2005 Dec;11(6):329-30. doi: 10.1097/01.rhu.0000195106.34348.59. PMID: 16371805

Therapy

Davidson A, Kuller JA, Dotters-Katz SK, Wood RL
Obstet Gynecol Surv 2024 Oct;79(10):611-616. doi: 10.1097/OGX.0000000000001316. PMID: 39437379
Jeremic I, Vujasinovic-Stupar N, Terzic T, Damjanov N, Nikolic M, Bonaci-Nikolic B
Med Princ Pract 2015;24(2):195-7. Epub 2014 Dec 16 doi: 10.1159/000369584. PMID: 25531204Free PMC Article
Katsenos S, Mermigkis C, Psathakis K, Tsintiris K, Polychronopoulos V, Panagou P, Ritis K, Light RW
Chest 2008 Apr;133(4):999-1001. doi: 10.1378/chest.07-1736. PMID: 18398120
Hurst M, Hull K, Nicholls D, Ameratunga R
J Clin Rheumatol 2005 Dec;11(6):329-30. doi: 10.1097/01.rhu.0000195106.34348.59. PMID: 16371805
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J
Am J Med Genet A 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. PMID: 14679589

Prognosis

Jeremic I, Vujasinovic-Stupar N, Terzic T, Damjanov N, Nikolic M, Bonaci-Nikolic B
Med Princ Pract 2015;24(2):195-7. Epub 2014 Dec 16 doi: 10.1159/000369584. PMID: 25531204Free PMC Article
Ruiz XD, Gadea CM
Conn Med 2011 Jan;75(1):17-9. PMID: 21329287
Sahan C, Cengiz K
Acta Clin Belg 2006 May-Jun;61(3):147-51. doi: 10.1179/acb.2006.024. PMID: 16881565
Hurst M, Hull K, Nicholls D, Ameratunga R
J Clin Rheumatol 2005 Dec;11(6):329-30. doi: 10.1097/01.rhu.0000195106.34348.59. PMID: 16371805
Aldea A, Campistol JM, Arostegui JI, Rius J, Maso M, Vives J, Yagüe J
Am J Med Genet A 2004 Jan 1;124A(1):67-73. doi: 10.1002/ajmg.a.20296. PMID: 14679589

Clinical prediction guides

Schmidt J, Berghaus S, Blessing F, Herbeck H, Blessing J, Schierack P, Rödiger S, Roggenbuck D, Wenzel F
PLoS One 2022;17(3):e0265622. Epub 2022 Mar 17 doi: 10.1371/journal.pone.0265622. PMID: 35298548Free PMC Article
Vitale A, Rigante D, Lucherini OM, De Palma A, Orlando I, Gentileschi S, Sota J, Simpatico A, Fabiani C, Galeazzi M, Frediani B, Cantarini L
Intern Emerg Med 2017 Aug;12(5):605-611. Epub 2017 Feb 13 doi: 10.1007/s11739-017-1622-z. PMID: 28194697

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