[Autoinflammatory syndromes].
Autoinflammatorische Syndrome.
Autoinflammatory diseases
Familial Mediterranean fever
Schnitzler syndrome
Still’s disease, adult-onset
VEXAS syndrome
Journal
Innere Medizin (Heidelberg, Germany)
ISSN: 2731-7099
Titre abrégé: Inn Med (Heidelb)
Pays: Germany
ID NLM: 9918384885306676
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
accepted:
08
03
2023
medline:
12
5
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
ppublish
Résumé
The concept of autoinflammation includes a heterogeneous group of monogenic and polygenic diseases. These are characterized by excessive activation of the innate immune system without antigen-specific T cells or autoantibodies. The diseases are characterized by periodic episodes of fever and increased inflammation parameters. Monogenic diseases include familial Mediterranean fever (FMF) and the newly described VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome. Heterogeneous diseases include adult-onset Still's disease and Schnitzler syndrome. Treatment is aimed at preventing the excessive inflammatory reaction in order to avoid long-term damage, such as amyloid A (AA) amyloidosis. Das Konzept der Autoinflammation umfasst eine heterogene Gruppe monogenetischer und polygener Erkrankungen. Kennzeichnend ist eine übermäßige Aktivierung des angeborenen Immunsystems ohne antigenspezifische T‑Zellen oder Autoantikörperbildung. Periodische Fieberschübe und erhöhte serologische Entzündungszeichen sind charakteristisch. Zu den monogenetischen Erkrankungen zählen unter anderem das familiäre Mittelmeerfieber sowie das neu beschriebene VEXAS-Syndrom (VEXAS „vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic“). Zu den heterogenen Erkrankungen zählen unter anderem das Still-Syndrom und das seltene Schnitzler-Syndrom. Die Therapie zielt auf die Verhinderung der überschießenden Entzündungsreaktion ab, um langfristige Schäden, wie das Auftreten einer Amyloid-A(AA)-Amyloidose, zu vermeiden.
Autres résumés
Type: Publisher
(ger)
Das Konzept der Autoinflammation umfasst eine heterogene Gruppe monogenetischer und polygener Erkrankungen. Kennzeichnend ist eine übermäßige Aktivierung des angeborenen Immunsystems ohne antigenspezifische T‑Zellen oder Autoantikörperbildung. Periodische Fieberschübe und erhöhte serologische Entzündungszeichen sind charakteristisch. Zu den monogenetischen Erkrankungen zählen unter anderem das familiäre Mittelmeerfieber sowie das neu beschriebene VEXAS-Syndrom (VEXAS „vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic“). Zu den heterogenen Erkrankungen zählen unter anderem das Still-Syndrom und das seltene Schnitzler-Syndrom. Die Therapie zielt auf die Verhinderung der überschießenden Entzündungsreaktion ab, um langfristige Schäden, wie das Auftreten einer Amyloid-A(AA)-Amyloidose, zu vermeiden.
Identifiants
pubmed: 37115240
doi: 10.1007/s00108-023-01505-1
pii: 10.1007/s00108-023-01505-1
pmc: PMC10140729
doi:
Types de publication
English Abstract
Journal Article
Langues
ger
Sous-ensembles de citation
IM
Pagination
442-451Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.
Références
McDermott MF, Aksentijevich I, Galon J et al (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133–144
doi: 10.1016/S0092-8674(00)80721-7
pubmed: 10199409
Mukhin NA, Kozlovskaya LV, Bogdanova MV, Rameev VV, Moiseev SV, Simonyan AK (2015) Predictors of AA amyloidosis in familial Mediterranean fever. Rheumatol Int 35(7):1257–1261. https://doi.org/10.1007/s00296-014-3205-x
doi: 10.1007/s00296-014-3205-x
pubmed: 25586652
Ben-Chetrit E, Touitou I (2009) Familial mediterranean Fever in the world. Arthritis Rheum 61(10):1447–1453. https://doi.org/10.1002/art.24458
doi: 10.1002/art.24458
pubmed: 19790133
Langevitz P, Livneh A, Padeh S et al (1999) Familial Mediterranean fever: new aspects and prospects at the end of the millenium. Isr Med Assoc J 1(1):31–36
pubmed: 11370119
Chuamanochan M, Weller K, Feist E et al (2019) State of care for patients with systemic autoinflammatory diseases—results of a tertiary care survey. World Allergy Organ J 12(3):100019. https://doi.org/10.1016/j.waojou.2019.100019
doi: 10.1016/j.waojou.2019.100019
pubmed: 30937142
pmcid: 6439415
Bonnekoh H, Butze M, Kallinich T, Kambe N, Kokolakis G, Krause K (2020) Spectrum of genetic autoinflammatory diseases presenting with cutaneous symptoms. Acta Derm Venereol 100(7):adv91. https://doi.org/10.2340/00015555-3427
doi: 10.2340/00015555-3427
pubmed: 32147748
Kallinich T, Orak B, Wittkowski H (2017) Rolle der Genetik beim familiären Mittelmeerfieber. Z Rheumatol 76:303–312. https://doi.org/10.1007/s00393-017-0265-9
doi: 10.1007/s00393-017-0265-9
pubmed: 28154935
Lidar M, Doron A, Kedem R, Yosepovich A, Langevitz P, Livneh A (2008) Appendectomy in familial Mediterranean fever: clinical, genetic and pathological findings. Clin Exp Rheumatol 26(4):568–573
pubmed: 18799086
Pankow A, Feist E, Baumann U, Kirschstein M, Burmester GR, Wagner AD (2021) What is confirmed in the treatment of autoinflammatory fever diseases? Internist 62(12):1280–1289. https://doi.org/10.1007/s00108-021-01220-9
doi: 10.1007/s00108-021-01220-9
pubmed: 34878558
Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J (1986) Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 314(16):1001–1005. https://doi.org/10.1056/NEJM198604173141601
doi: 10.1056/NEJM198604173141601
pubmed: 3515182
Götestam Skorpen C, Hoeltzenbein M, Tincani A et al (2016) The EULAR points to consider for use of antirheumatic drugs before pregnancy, and during pregnancy and lactation. Ann Rheum Dis 75(5):795–810. https://doi.org/10.1136/annrheumdis-2015-208840
doi: 10.1136/annrheumdis-2015-208840
pubmed: 26888948
Boyadzhieva Z, Ruffer N, Krusche M (2021) Colchicine: old medication with new benefits : use in rheumatology and beyond. Z Rheumatol 80(7):647–657. https://doi.org/10.1007/s00393-021-01017-z
doi: 10.1007/s00393-021-01017-z
pubmed: 34097101
pmcid: 8181537
Ozen S, Demirkaya E, Erer B et al (2016) EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 75(4):644–651. https://doi.org/10.1136/annrheumdis-2015-208690
doi: 10.1136/annrheumdis-2015-208690
pubmed: 26802180
Beck DB, Ferrada MA, Sikora KA et al (2020) Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 383(27):2628–2638. https://doi.org/10.1056/NEJMoa2026834
doi: 10.1056/NEJMoa2026834
pubmed: 33108101
pmcid: 7847551
Shaukat F, Hart M, Burns T, Bansal P (2022) UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review. Mod Rheumatol Case Rep 6(1):134–139. https://doi.org/10.1093/mrcr/rxab021
doi: 10.1093/mrcr/rxab021
pubmed: 34480172
Zakine E, Schell B, Battistella M et al (2021) UBA1 variations in neutrophilic dermatosis skin lesions of patients with VEXAS syndrome. JAMA Dermatol 157(11):1349–1354. https://doi.org/10.1001/jamadermatol.2021.3344
doi: 10.1001/jamadermatol.2021.3344
pubmed: 34495287
Dehghan N, Marcon KM, Sedlic T, Beck DB, Dutz JP, Chen LYC (2021) Vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic (VEXAS) syndrome: fevers, myalgia, arthralgia, auricular chondritis, and erythema nodosum. Lancet 398(10300):621. https://doi.org/10.1016/S0140-6736(21)01430-6
doi: 10.1016/S0140-6736(21)01430-6.
pubmed: 34391501
Ferrada MA, Sikora KA, Luo Y et al (2021) Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients with VEXAS. Arthritis Rheumatol 73(10):1886–1895. https://doi.org/10.1002/art.41743
doi: 10.1002/art.41743
pubmed: 33779074
Tsuchida N, Kunishita Y, Uchiyama Y et al (2021) Pathogenic. Ann Rheum Dis 80(8):1057–1061. https://doi.org/10.1136/annrheumdis-2021-220089
doi: 10.1136/annrheumdis-2021-220089
pubmed: 33789873
Muratore F, Marvisi C, Castrignanò P et al (2022) VEXAS syndrome: a case series from a single-center cohort of Italian patients with Vasculitis. Arthritis Rheumatol 74(4):665–670. https://doi.org/10.1002/art.41992
doi: 10.1002/art.41992
pubmed: 34611997
pmcid: 8957507
Matsumoto H, Asano T, Tsuchida N et al (2022) Behçet’s disease with a somatic UBA1 variant: expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol 238:108996. https://doi.org/10.1016/j.clim.2022.108996
doi: 10.1016/j.clim.2022.108996
pubmed: 35398520
Beck DB, Grayson PC, Kastner DL (2021) Mutant UBA1 and severe adult-onset autoinflammatory disease. Reply. N Engl J Med 384(22):2164–2165. https://doi.org/10.1056/NEJMc2102124
doi: 10.1056/NEJMc2102124
pubmed: 34077654
Georgin-Lavialle S, Terrier B, Guedon AF et al (2022) Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol 186(3):564–574. https://doi.org/10.1111/bjd.20805
doi: 10.1111/bjd.20805
pubmed: 34632574
Zeeck M, Kötter I, Krusche M (2022) VEXAS syndrome. Z Rheumatol. https://doi.org/10.1007/s00393-022-01169-6
doi: 10.1007/s00393-022-01169-6
pubmed: 35394194
pmcid: 9646605
Gurnari C, Pagliuca S, Durkin L et al (2021) Vacuolization of hematopoietic precursors: an enigma with multiple etiologies. Blood 137(26):3685–3689. https://doi.org/10.1182/blood.2021010811
doi: 10.1182/blood.2021010811
pubmed: 33690844
pmcid: 8462399
Luzzatto L, Risitano AM, Notaro R (2021) Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 384(22):2164. https://doi.org/10.1056/NEJMc2102124
doi: 10.1056/NEJMc2102124
pubmed: 34077653
Heiblig M, Ferrada MA, Koster MJ et al (2022) Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. Blood 140(8):927–931. https://doi.org/10.1182/blood.2022016642
doi: 10.1182/blood.2022016642
pubmed: 35609174
Comont T, Heiblig M, Rivière E et al (2022) Azacitidine for patients with vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol 196(4):969–974. https://doi.org/10.1111/bjh.17893
doi: 10.1111/bjh.17893
pubmed: 34651299
Diarra A, Duployez N, Terriou L (2021) Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 384(22):2163–2164. https://doi.org/10.1056/NEJMc2102124
doi: 10.1056/NEJMc2102124
pubmed: 34077652
Al-Hakim A, Poulter JA, Mahmoud D et al (2022) Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience. Br J Haematol. https://doi.org/10.1111/bjh.18488
doi: 10.1111/bjh.18488
pubmed: 36184391
Simon A, Asli B, Braun-Falco M et al (2013) Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy 68(5):562–568. https://doi.org/10.1111/all.12129
doi: 10.1111/all.12129
pubmed: 23480774
Schnitzler L (1972) Lesions urticariennes chroniques permanentes (erytheme petaloide?) Cas cliniques. J Dermatol Angers 46
de Koning HD, Bodar EJ, van der Meer JW, Simon A (2007) Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 37:137–148
doi: 10.1016/j.semarthrit.2007.04.001
pubmed: 17586002
Bonnekoh H, Scheffel J, Maurer M, Krause K (2018) Use of skin biomarker profiles to distinguish Schnitzler syndrome from chronic spontaneous urticaria: results of a pilot study. Br J Dermatol 178(2):561–562. https://doi.org/10.1111/bjd.15705
doi: 10.1111/bjd.15705
pubmed: 28580686
Bonnekoh H, Scheffel J, Wu J, Hoffmann S, Maurer M, Krause K (2019) Skin and systemic inflammation in Schnitzler’s syndrome are associated with neutrophil extracellular trap formation. Front Immunol 10:546. https://doi.org/10.3389/fimmu.2019.00546
doi: 10.3389/fimmu.2019.00546
pubmed: 30967871
pmcid: 6438918
Pizzirani C, Falzoni S, Govoni M et al (2009) Dysfunctional inflammasome in Schnitzler’s syndrome. Rheumatology 48:1304–1308. https://doi.org/10.1093/rheumatology/kep222
doi: 10.1093/rheumatology/kep222
pubmed: 19696060
Krause K, Bonnekoh H, Ellrich A et al (2020) Long-term efficacy of canakinumab in the treatment of Schnitzler syndrome. J Allergy Clin Immunol 145(6):1681–1686.e5. https://doi.org/10.1016/j.jaci.2019.12.909
doi: 10.1016/j.jaci.2019.12.909
pubmed: 31940469
Krause K, Weller K, Stefaniak R et al (2012) Efficacy and safety of the interleukin‑1 antagonist rilonacept in Schnitzler syndrome: an open-label study. Allergy 67(7):943–950. https://doi.org/10.1111/j.1398-9995.2012.02843.x
doi: 10.1111/j.1398-9995.2012.02843.x
pubmed: 22583335
de Koning HD, van der Meer JW, Simon A (2007) Comment on: Schnitzlers syndrome—exacerbation after anti-TNF treatment. Rheumatology 46:1741 (author reply 1741)
doi: 10.1093/rheumatology/kem244
pubmed: 17956920
Feist E, Mitrovic S, Fautrel B (2018) Mechanisms, biomarkers and targets for adult-onset Still’s disease. Nat Rev Rheumatol 14(10):603–618. https://doi.org/10.1038/s41584-018-0081-x
doi: 10.1038/s41584-018-0081-x
pubmed: 30218025
pmcid: 7097309
Kedor C, Feist E (2017) Adulter Morbus Still – Neues zur Diagnostik und Therapie – Adult-Onset Still’s Disease: New Developments in Diagnostics and Treatment. Akt Rheumatol 42:37–45. https://doi.org/10.1055/s-0042-118879
Magliulo D, Narayan S, Ue F, Boulougoura A, Badlissi F (2021) Adult-onset Still’s disease after mRNA COVID-19 vaccine. Lancet Rheumatol 3(10):e680–e682. https://doi.org/10.1016/S2665-9913(21)00219-8
doi: 10.1016/S2665-9913(21)00219-8
pubmed: 34316726
pmcid: 8298008
Sfriso P, Priori R, Valesini G et al (2016) Adult-onset Still’s disease: an Italian multicentre retrospective observational study of manifestations and treatments in 245 patients. Clin Rheumatol 35(7):1683–1689. https://doi.org/10.1007/s10067-016-3308-8
doi: 10.1007/s10067-016-3308-8
pubmed: 27207567
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Seve P (2014) Adult-onset Still’s disease. Autoimmun Rev 13(7):708–722. https://doi.org/10.1016/j.autrev.2014.01.058
doi: 10.1016/j.autrev.2014.01.058
pubmed: 24657513
Tomaras S, Goetzke CC, Kallinich T, Feist E (2021) Adult-onset still’s disease: clinical aspects and therapeutic approach. J Clin Med. https://doi.org/10.3390/jcm10040733
doi: 10.3390/jcm10040733
pubmed: 33673234
pmcid: 7918550
Yamaguchi M, Ohta A, Tsunematsu T et al (1992) Preliminary criteria for classification of adult Still’s disease. J Rheumatol 19(3):424–430
pubmed: 1578458
Vordenbäumen S, Feist E, Rech J, et al. Diagnostik und Therapie des adulten Still-Syndroms (AOSD). AWMF online2022.
Kedor C, Tomaras S, Baeumer D, Feist E (2021) Update on the therapy of adult-onset Still’s disease with a focus on IL-1-inhibition: a systematic review. Ther Adv Musculoskelet Dis 13:1759720X211059598. https://doi.org/10.1177/1759720X211059598
doi: 10.1177/1759720X211059598
pubmed: 34868356
pmcid: 8641116