The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: Our experience and review of the literature

Autoimmunity Reviews

Volumn 12, Issue 1, 2012, Pages 10-13

  Muscari, Isabella ^a   Iacoponi, Francesca ^a   Cantarini, Luca ^a   Lucherini, Orso Maria ^a   Simonini, Gabriele ^b   Brizi, Maria Giuseppina ^a   Vitale, Antonio ^a   Frediani, Bruno ^a   Cimaz, Rolando ^b   Galeazzi, Mauro ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Autoinflammatory disorders; Familial Mediterranean fever (FMF); MEFV gene; TNFRSF1A gene; Tumor necrosis factor receptor associated periodic syndrome (TRAPS)

Indexed keywords

ABDOMINAL PAIN; AUTOINFLAMMATORY DISEASE; DIFFERENTIAL DIAGNOSIS; ETHNICITY; FAMILIAL MEDITERRANEAN FEVER; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; HEREDITARY PERIODIC FEVER; HUMAN; INNATE IMMUNITY; ONSET AGE; PREDICTOR VARIABLE; RECURRENT FEVER; REVIEW; RISK FACTOR; THORAX PAIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; VALIDATION PROCESS; VALIDATION STUDY;

ADULT; AGE OF ONSET; DIAGNOSIS, DIFFERENTIAL; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I;

EID: 84866872339     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2012.07.015     Document Type: Review

References (23)

1. Masters S.L., Simon A., Aksentijevich I., Kastner D.L. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009, 27:621-668.
2. Touitou I., Koné-Paut I. Autoinflammatory diseases. Best Pract Res Clin Rheumatol 2008, 22:811-829.
3. Steichen O., van der Hilst J., Simon A., Cuisset L., Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 2009, 36:1677-1681.
4. Neven B., Callebaut I., Prieur A.M., Feldmann J., Bodemer C., Lepore L., et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004, 103:2809-2815.
5. Caroli F., Pontillo A., D'Osualdo A., Travan L., Ceccherini I., Crovella S., et al. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford) 2007, 46:473-478.
6. Vitale A, Lucherini OM, Galeazzi M, Frediani B, Cantarini L. Long term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clin Exp Rheumatol in press.
7. Sohar E., Gafni J., Pras M., Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967, 43:227-253.
8. Sayarlioglu M., Cefle A., Inanc M., Kamali S., Dalkilic E., Gul A., et al. Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 2005, 59:202-205.
9. Cantarini L., Capecchi P.L., Lucherini O.M., Laghi Pasini F., Galeazzi M. Familial Mediterranean fever diagnosed in an elderly patient. Clin Exp Rheumatol 2010, 28(4 Suppl. 60):S91.
10. Cantarini L., Imazio M., Brucato A., Lucherini O.M., Galeazzi M. Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis. Autoimmun Rev 2010, 9:436-440.
11. Cantarini L., Lucherini O.M., Baldari C.T., Laghi Pasini F., Galeazzi M. Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome. Clin Exp Rheumatol 2010, 28:405-407.
12. Tchernitchko D., Chiminqgi M., Galactéros F., Préhu C., Segbena Y., Coulibaly H., et al. Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations. Eur J Hum Genet 2005, 13:513-515.
13. Cantarini L., Lucherini O.M., Iacoponi F., Cimaz R., Simonini G., Rigante D., et al. Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. Int J Immunopathol Pharmacol 2010, 23:1133-1141.
14. Dodé C., André M., Bienvenu T., Hausfater P., Pêcheux C., Bienvenu J., et al. French Hereditary Recurrent Inflammatory Disorder Study Group. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002, 46:2181-2188.
15. Cantarini L., Iacoponi F., Lucherini O.M., Obici L., Brizi M.G., Cimaz R., et al. Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. Int J Immunopathol Pharmacol 2011, 24:695-702.
16. Ravet N., Rouaghe S., Dodé C., Bienvenu J., Stirnemann J., Lévy P., et al. Clinical significance of P46L and R92Q substitutions in the tumor necrosis factor superfamily 1A gene. Ann Rheum Dis 2006, 65:1158-1162.
17. Simon A., van der Meer J.W., Vesely R., Myrdal U., Yoshimura K., Duys P., et al. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford) 2006, 45:269-273.
18. Chisci E., Perulli A., Iacoponi F., Setacci F., de Donato G., Palasciano G., et al. Benefit of revascularisation to critical limb ischaemia patients evaluated by a patient-oriented scoring system. Eur J Vasc Endovasc Surg 2012, 43:540-547.
19. Cantarini L., Rigante D., Brizi M.G., Lucherini O.M., Sebastiani G.D., Vitale A., et al. Clinical and biochemical landmarks in systemic autoinflammatory diseases. Ann Med 2011, http://dx.doi.org/10.3109/07853890.2011.598546 [Epub ahead of print].
20. Tchernitchko D., Moutereau S., Legendre M., Delahaye A., Cazeneuve C., Lacombe C., et al. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients. Arthritis Rheum 2005, 52:3603-3605.
21. Federici L., Rittore-Domingo C., Kone-Paut I., Jorgensen C., Rodière M., Le Quellec A., et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006, 65:1427-1432.
22. Gattorno M., Sormani M.P., D'Osualdo A., Pelagatti M.A., Caroli F., Federici S., et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008, 58:1823-1832.
23. Livneh A., Langevit P., Zemer D., Zaks N., Kees S., Lidar T., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997, 10:1879-1885.