Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know
https://doi.org/10.14412/1995-4484-2019-125-132
Abstract
The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.
About the Authors
S. O. Salugina
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
E. S. Fedorov
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
E. M. Agafonova
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
Russian Federation
34A, Kashirskoe Shosse, Moscow, 115552
References
1. Al-Herz W, Bousgiha A, Gasanova JL. Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2014;225:162.
2. Shcherbina AYu. Autoinflammatory diseases: An immunologist’s view. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2015;9(1):48-54 (In Russ.) doi: 10.14412/1996-7012-2015-1-48-54
3. Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis. 2018;0:1-8. doi: 10.1136/annrheumdis-2017-212515
4. McDermott MF, Aksentijevich I, Galon G, et al. Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133-44. doi: 10.1016/S0092-8674(00)80721-7
5. Ozen S, Demir S. Monogenic periodic fever syndromes: treatment options for the pediatric patient. Pediatr Drugs. 2017,19:303-11. doi: 10.1007/s40272-017-0232-6
6. Caso F, Rigante D, Vitale A, et al. Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. Int J Rheumatol. 2013;2013:Article ID513782, 15 p. doi: 10.1155/2013/513782
7. Gattorno M. Auto-inflammatory diseases in children. Voprosy Sovremennoi Pediatrii. 2014;13:55-64 (In Russ.)
8. Barron K, Athreya B, Kastner D. Periodic fever syndromes and other inherited autoinflammatory diseases in: Textbook of pediatric rheumatology. Edited by Cassidy J.T. et al., 6 th ed. Elsevier Saunders; 2011. P. 642-60.
9. Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012;71:1177-82. doi: 10.1136/annrheumdis-2011-200549
10. Kuz'mina NN, Salugina SO, Fedorov ES. Autovospalitel'nye zabolevaniya i sindromy u detei: Uchebnometodicheskoe posobie [Autoinflammatory diseases and syndromes in children: Teaching aid]. Moscow: IMA-PRESS; 2012. 104 p. (In Russ.)
11. Dinarello C. A Signal for the Caspase-1 Inflammasome Free of TLR. Immuniti. 2007;26:383-5. doi: 10.1016/j.immuni.2007.04.005
12. Goldbach-Mansky R, Kastner DL. Autoinflammation: The prominent role of IL-1 in monogenic autoinflammatory diseases and implication for common illnesses.J Allergy Clin Immunol. 2009;124:1141-51. doi: 10.1016/j.jaci.2009.11.016
13. Lachmann HJ, Quartier P, So A, et al. The Emerging Role of Interleukine-1 in Autoinflammatory Diseases. Arthritis Rheum. 2011;63:314-24. doi: 10.1002/art.30105
14. Nasonov EL, Eliseev MS. Role of interleukin 1 in the development of human diseases. NauchnoPrakticheskaya Revmatologiya = Rheumatology Science and Practice. 2016;54(1):60-77 (In Russ.) doi: 10.14412/1995-4484-2016-60-77
15. Fedorov ES, Salugina SO, Kuzmina NN. Development of the doctrine of auto-inflammatory diseases in the XXI century. Nauchno-Prakticheskaya Revmatologiya = Rheumatology Science and Practice. 2018;56(Suppl 4):5-18 (In Russ.)
16. Janeway TC, Mosenthal H. Unusual paroxysmal syndrome, probably allied to reccurent vomiting, with a study of nitrogen metabolism. Trans Assoc Am Phys. 1908;23:504-18.
17. Reimann HA. Periodic disease a probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. Jam Med Assoc. 1948;136(4):239-44. doi: 10.1001/jama.1948.02890210023004
18. Gattorno M., editor. Familial Mediterranean fever. Springer; 2015.
19. Amaryan GG, Sarkisyan TF, Airapetyan AS. Semeinaya sredizemnomorskaya likhoradka u detei (periodicheskaya bolezn'): klinicheskie i geneticheskie aspekty: Metodicheskoe posobie[Familial Mediterranean fever in children (recurrent illness): clinical and genetic aspects: Toolkit]. Erevan; 2012 (In Russ.)
20. Lachmann 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. 2013;0:1-8.
21. Fedorov ES, Salugina SO, Soboleva MK. A familial case of TRAPS in a Russian population. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2015;9(1):60-5 (In Russ.) doi: 10.14412/1996-7012-2015-1-60-65
22. Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Ped Rheumatol. 2016;14:30.
23. Cantarini L, Vitale A, Lucherini OM, et al. Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined. Rheumatismo. 2013;65(2):55-62. doi: 10.4081/reumatismo.2013.55
24. Ter Haar N, Oswald M, Jeyaratnam J, et al. Recommendation for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74:1636-44. doi: 10.1136/annrheumdis-2015-207546
25. Ozen S, Kuemmerle-Deschner JB, Cimaz R, et al. International retrospective chart review of treatment patterns in severe familial Mediterranean Fever, Tumor Necrosis Factor Receptor-associated periodic syndrome, and Mevalonate Kinase Deficiency / Hyperimmunoglobulinemia D Syndrome. Arthritis Care Res. 2017;69(4):578-86. doi.org/10.1002/acr.23120
26. Gattorno M, Sormani NP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum.2008;58:1823-32. doi: 10.1002/art.23474
27. Federici S, Gattorno M. A practical approach to the diagnosis of autoinflammatory diseases in childhood. Best Pract Res Clin Rheumatol. 2014;28:263-76. doi: 10.1016/j.berh.2014.05.005
28. Federici S, Sormani M, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis. 2015;74:799-805. doi: 10.1136/annrheumdis-2014-206580
29. Shinar Y, Obici L, Aksentijevich I, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012;71:1599-605. doi: 10.1136/annrheumdis-2011-201271
30. Salugina SO, Kamenets EA, Fedorov ES, et al. Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2017;11(3):33-43 (In Russ.) doi: 10/14412/1996-7012-2017-3-33-43
31. Von Muhlenen I, Gabay C, Finckh A, et al. NLRP3 Q703K and TNFRSF1A R92Q mutations in a patient with autoinflammatory disease. Ped Rheumatol. 2015;13(1):P47 (abstract). doi: 10.1186/1546-0096-13-S1-P47
32. Pelagatti MA, Meini A, Caorsi R, et al. Longterm clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 2011;63:1141-50. doi: 10.1002/art.30237
33. Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011;63:3625-32. doi: 10.1002/art.30512
34. Federici S, Martini A, Gattorno M. The central role of anti-IL-1 blockade in the treatment of monogenic and multi-factorial autoinflammatory diseases. Front Immunol. 2013;4:351. doi: 10.3389/fimmu.2013.00351
35. Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223-44. doi: 10.1146/annurev-med-061512-150641
36. Kuemmerle-Deschner J, Haug I. Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians. Ther Adv Musculoskel Dis. 2013;5(6):315-9. doi: 10.1177/1759720X13502629
37. Toker O, Hashkes PJ. Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS). Biol Targ Ther. 2010;4:131-8.
38. Benedetti F, Gattorno M, Ben-Chetrit E, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018;378:1908-19. doi: 10.1056/NEJMoa1706314
39. Salugina SO, Fedorov ES, Zakharova EYu, Evsikova MD. A familial case of Muckle–Wells syndrome in a Russian population: The first successes of therapy with the interleukin 1 inhibitor canakinumab. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2015;9(1):66-71 (In Russ.) doi: 10.14412/1996-7012-2015-1-66-71
40. Erbis G, Schmidt K, Hansmann S, et al. Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults. Pediatr Rheumatol. 2018;16:81. doi: 10.1186/s12969-018-0300-7
Review
For citations:
Salugina S.O., Fedorov E.S., Agafonova E.M. Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know. Rheumatology Science and Practice. 2019;57(2):125-132. (In Russ.) https://doi.org/10.14412/1995-4484-2019-125-132
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