Periodic fevers and other autoinflammatory diseases
Authors:
Šárka Fingerhutová 1; Eva Jančová 2; Markéta Tesařová 3; Lenka Dvořáková 4; Pavla Doležalová 1
Authors‘ workplace:
Centrum dětské revmatologie a autoinflamatorních onemocnění, Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze
1; Centrum imunonefrologie, Klinika nefrologie 1. LF UK a VFN v Praze
2; Laboratoř pro studium mitochondriálních poruch, Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze
3; Laboratoř diagnostiky DNA, Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze
4
Published in:
Čas. Lék. čes. 2018; 157: 122-129
Category:
Overview
Autoinflammatory diseases represent a relatively new and rapidly evolving group of rare disorders associated with mutations of genes encoding proteins with a key regulatory role in inflammatory response. Gradual discovery of mechanisms that link genetic disorder with its biochemical and immunological consequences leading to continuous or episodic inflammatory stimulation has enabled introduction of directed immunotherapies. Periodic fever syndromes belong to the so far best-known entities: familial Mediterranean fever, mevalonate kinase deficiency, cryopyrinopathies and TNF-receptor associated periodic syndrome. These inherited disorders usually manifest in childhood with variably long febrile episodes accompanied with the spectrum of other skin and organ inflammatory features and elevation of laboratory markers of inflammation. Uncontrolled disease may lead to secondary amyloidosis. Directed anti-inflammatory therapy can prevent evolution of organ damage. In children benign syndrome of periodic fever with aphtae, pharyngitis and cervical adenitis is the most common self-limited disorder without clear genetic disposition. Following other autoinflammatory disease groups are described – pyogenic syndromes, disorders with skin and bone manifestations, granulomatous diseases, monogenic vasculopathies and diseases associated with proteasome disorder. Diagnosis of autoinflammatory diseases is often delayed due to their extreme rarity. Increasing efficacy and availability of molecular-genetic testing and centralization of diagnostics and clinical care in a specialized center for children as well as adults can in the future improve quality of care for patients with these rare conditions.
Keywords:
autoinflammatory diseases (AID), periodic fever syndromes, FMF, CAPS, MKD, TRAPS, PFAPA, NGS
Sources
1. McDermott MF, Aksentijevich I, Galon J et al. Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1 define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97, 133–144.
2. Meiorin S, Espada G, Rosé C. Autoinflammatory diseases in pediatrics. Arch Argent Pediatr 2013; 111(3): 237–234.
3. Federichi S, Caorsi S, Gattorno M. The autoinflammatory diseases. Swiss Med Wkly 2012 Jun 19; 142: w13602.
4. Cetkovská P, Benáková N. Autoinflamatorní syndromy s kožními projevy. Československá dermatologie 2015; 90(4): 144–155.
5. Doležalová P, Król P. Recidivující horečky u dětí. Vox pediatrie. 2010, roč. 10, č.3, 16–20.
6. Fingerhutová Š, Doležalová P. Kožní projevy autoinflamatorních onemocnění. Dermatologie pro praxi 2017; 11(4): 192–198.
7. Milner JD. PLAID: a syndrome of complex patterns of disease and unique phenotypes. J Clin Immunol 2015; 35: 527–530.
8. Lachman HJ, Papa R, Gerhold K et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis 2014; 73 (12): 2160–7.
9. Montealegre Sanchez GA, Hashkes PJ. Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. Dev Med Child Neurol 2009; 51(6): 420–428.
10. Rowczenio DM, Trojer H, Omoyeinmi E et al. Brief report: association of tumor necrosis factor receptor-associated periodic syndrome with gonosomal mosaicism of a novel 24-nucleotide TNFRSF1A deletion. Arthritis Rheumatol. 2016; 68(8): 2044–2049.
11. Rowczenio DM, Gomes SM, Aróstegui JI et al. Late-onset cryopyrin-associated periodic syndromes caused by somatic NLRP3 mosaicism-UK single center experience. Front Immunol 2017; 8: 1410.
12. Ter Haar NM, Oswald M, Jeyaratnam J et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 2015; 74(9): 1636–1644.
13. Neven B, Prieur AM, Quartier dit Maire P. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol 2008; 4(9): 481–489.
14. Toplak N, Grenkel J, Ozen S et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012; 71: 1177–1182.
15. Król P, Doležalová P. Horečka jako hlavní projev nemoci. Pediatrie pro praxi 2011; 12(2): 111–114.
16. Dávila-Seijo P, Hernández-Martín A, Torrelo A. Autoinflammatory syndromes for the dermatologist. Clin Dermatol. 2014; 32 (4): 488–501.
17. Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007; 65(9): 318–324.
18. The international FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797–807.
19. Braun-Falco M, Ruzicka T. Skin manifestations in autoinflammatory syndromes. J Dtsch Dermato Ges 2011; 9(3): 232–246.
20. Gattorno M, Federici S, Pelagatti MA et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 2008; 28(Suppl. I): 73–83.
21. Lachmann HJ. Clinical immunology review series: an approach to the patient with a periodic fever syndrome. Clin Exp Immunol 2011; 165(3): 301–309.
22. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: A review on treatment and outcome. Pediatr Rheumatol Online J 2016; 14(1): 38.
23. Cochard M, Clet J, Le L et al. PFAPA syndrome is not a sporadic disease. Rheumatology (Oxford) 2010; 49(10) 1984–1987.
24. Król P, Bohm M, Sula V et al. PFAPA syndrome: clinical characteristics and treatment outcomes in a large single-centre cohort. Clin Exp Rheumatol 2013; 31(6): 980–987.
25. Perko D, Debeljak M, Toplak N et al. Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients. Mediators Inflamm 2015; 2015: 293417.
26. Long SS. Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA): What it isn’t. What is it? J Pediatr 1999; 135 (1): 1–5.
27. Stojanov S, Hoffmann F, Kéry A et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw 2006; 17(2): 90–97.
28. Licameli G, Lawton M, Kenna M et al. Long-term surgical outcomes of adenotonsillectomy for PFAPA syndrome. Arch Otolaryngol Head Neck Surg 2012; 138 (10): 902–906.
29. Padeh S, Stoffman N, Berkun Y. Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults. Isr Med Assoc J 2008; 10(5): 358–360.
30. Lantto U, Koivunen P, Tapiainen T et al. Long-term outcome of classic and incomplete PFAPA (Periodic fever, aphtous stomatitis, pharyngitis, and adenitis) syndrome after tonsillectomy. J Pediatr 2016; 179: 172–177.
31. Smith EJ, Allantaz F, Bennett L et al. Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics 2010; 11(7): 519–527.
32. Touitou I, Galeotti C, Rossi-Semerano L et al. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet J Rare Dis 2013; 8: 162.
33. Schnellbacher C, Ciocca G, Menendez R et al. Deficiency of interleukin-1 receptor antagonist responsive to Anakinra. Pediatr Dermatol 2013; 30(6): 758–760.
34. Rukavina I. SAPHO syndrome: a review. J Child Orthop 2015; 9(1): 19–27.
35. Caso F, Galozzi P, Costa L et al. Autoinflammatory granulomatous diseases: from Blau syndrome and early onset sarcoidosis to NOD2-mediated disease and Crohn´s disease. RMD Open 2015; 1 (1): e000097.
36. Liu Y, Jesus AA, Marrero B et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med 2014; 371 (6): 507–518.
37. Caorsi R, Penco F, Shena F et al. Monogenic polyarteritis: the lesson of ADA deficiency. Pediatr Rheumatol 2016, 14: 51.
38. Kluk J, Rustin M, Brogan PA et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature. Br J Dermatol 2014; 170 (1): 215–217.
39. Shinar Y, Obici L, Aksentijevich I et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71: 1599–1605.
40. Marcuzzi A, Piscianz E, Kleiner G et al. Clinical genetic testing of periodic fever syndromes. Biomed Res Int 2013; 2013: 501305.
41. Metzker ML. Sequencing technologies – the next generation. Nat Rev Genet 2010; 11 (1): 31–46.
Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Paediatrics Rheumatology Pain management Dental HygienistArticle was published in
Journal of Czech Physicians
![Issue 3](https://www.prolekare.cz/media/cache/resolve/journal_issue/media/image_pdf/2acb4da2d6e911366dc61bb4a3ab5e7c.jpeg)
Most read in this issue
- Periodic fevers and other autoinflammatory diseases
- Lymph node syndrome associated with cat scratch disease in children and adults
- Celiac disease in children and adolescents
- A horizontal transmission of genetic information and its importance for development of antibiotics resistance