Diagnosis and management of the inherited periodic fever syndromes

CPD Bulletin Immunology and Allergy

Volumn 3, Issue 1, 2003, Pages 16-19

  Lachmann, Helen J ^a,b   Hawkins, Philip N ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

AA amyloidosis; Cryopyrin; Familial Mediterranean fever; Mevalonate kinase; Tumour necrosis factor receptor

Indexed keywords

ANALGESIC AGENT; C REACTIVE PROTEIN; COLCHICINE; CORTICOSTEROID; ETANERCEPT; IMMUNOGLOBULIN D; IMMUNOSUPPRESSIVE AGENT; INFUSION FLUID; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SERUM AMYLOID A; TUMOR NECROSIS FACTOR RECEPTOR;

AMYLOIDOSIS; APOPTOSIS; BIRTH DEFECT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIARRHEA; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DISEASE DURATION; DRUG EFFICACY; DRUG MEGADOSE; DRUG OVERDOSE; DRUG POTENTIATION; DRUG TOLERABILITY; ETHNIC GROUP; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FAMILIAL INCIDENCE; FAMILIAL MEDITERRANEAN FEVER; GENE EXPRESSION; GENE MUTATION; GENETIC DAMAGE; GENETIC IDENTIFICATION; HEREDITARY PERIODIC FEVER SYNDROME; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; INFERTILITY; INFLAMMATION; INFLAMMATORY DISEASE; KIDNEY DISEASE; LABORATORY TEST; MORBIDITY; MUCKLE WELLS SYNDROME; ONSET AGE; PATHOGENESIS; PROPHYLAXIS; PROTEIN BLOOD LEVEL; QUALITY OF LIFE; REVIEW; SYMPTOMATOLOGY; TREATMENT PLANNING; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

EID: 0038446701     PISSN: 13678949     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (17)

1. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351: 659-664.
2. Livneh A, Langevitz P, Zemer D, et al; Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-1885.
3. Consortium TFF. A candidate gene for familial Mediterranean fever. Nat. Genet 1997; 17: 25-31.
4. Consortium TIF. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
5. Livneh A, Langevitz P, Shinar Y, et al; MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid: Int. J. Exp. Clin. Invest 1999; 6: 1-6.
6. Booth DR, Gillmore JD, Lachmann HJM, et al; The genetic basis of autosomal dominant familial Mediterranean fever. Q.J. Med 2000; 93: 217-221.
7. Centola M, Wood G, Frucht DM, et al; The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-3231.
8. Pras M, Bronshpigel N, Zemer D, et al; Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med. J 1982; 150: 22-26.
9. Booth DR, Gillmore JD, Booth SE, et al; Pyrin/marenostrin mutations in familial Mediterranean fever. Q.J. Med 1998; 91: 603-606.
10. Goldfinger WE. Colchicine for familial Mediterranean fever. N. Engl. J. Med 1972; 287: 1302.
11. Zemer D, Pras M, Sohar E, et al; Colchicine in the prevention and treatment of amyloidosis of familial Mediterranean fever. N. Engl. J. Med 1986; 341: 1001-1005.
12. Ben-Chetrit E, Levy M. Colchicine: 1998 update. Semin. Arthritis Rheum 1998; 28: 48-59.
13. McDermott MF, Aksentijevich I, Galon J, et al; Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97(1): 133-144.
14. Hull KM, Drewe E, Aksentijevich I, et al; The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81(5): 349-386.
15. Houten SM, Kuis W, Duran M, et al; Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22(2): 175-177.
16. Hoffman HM, Mueller JL, Broide DH, et al; Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29(3): 301-305.
17. Aksentijevich I, Nowak M, Mallah M, et al; De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002; 46(12): 3340-8.