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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

Vascular Behçet syndrome: from pathogenesis to treatment.
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
Management of Behcet's syndrome.
Karadag O, Bolek EC
Rheumatology (Oxford) 2020 May 1;59(Suppl 3):iii108-iii117. doi: 10.1093/rheumatology/keaa086. PMID: 32348509
Classification criteria for autoinflammatory recurrent fevers.
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

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
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
Evaluation of hearing in patients with familial Mediterranean fever.
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
Familial Mediterranean fever presenting with pulmonary embolism.
Ruiz XD, Gadea CM
Conn Med 2011 Jan;75(1):17-9. PMID: 21329287
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis.
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
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
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

Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.
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
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
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
A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes.
Cigni A, Ledda F, Satta AE
J Nephrol 2006 Jul-Aug;19(4):543-9. PMID: 17048217
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis.
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
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
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

Therapy

Fatal sulfasalazine-induced eosinophilic myocarditis in a patient with periodic fever syndrome.
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
Unilateral lymphocytic pleuritis as a manifestation of familial Mediterranean fever.
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
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis.
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
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
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
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
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

Fatal sulfasalazine-induced eosinophilic myocarditis in a patient with periodic fever syndrome.
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
Familial Mediterranean fever presenting with pulmonary embolism.
Ruiz XD, Gadea CM
Conn Med 2011 Jan;75(1):17-9. PMID: 21329287
Pulmonary amyloidosis in familial Mediterranean fever.
Sahan C, Cengiz K
Acta Clin Belg 2006 May-Jun;61(3):147-51. doi: 10.1179/acb.2006.024. PMID: 16881565
Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis.
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
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
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

Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.
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
The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.
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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