medigraphic.com

2023, Número 1

<< Anterior

Rev Hematol Mex 2023; 24 (1)


Síndrome VEXAS

Simental-Legarda L, Pérez-Jacobo F

Idioma: Ingles.
Referencias bibliográficas: 30
Paginas: 247-35
Archivo PDF: 348.93 Kb.


RESUMEN

El síndrome VEXAS es una afección novedosa, su nombre es un acrónimo basado en las características clave del síndrome: vacuolas, enzima E1, ligado al cromosoma X, autoinflamatorio, somático. Es una enfermedad monogénica de la edad adulta, clínicamente observada como una enfermedad autoinflamatoria con manifestaciones reumatológicas y hematológicas. Hasta el 50% de los pacientes tiene una neoplasia hematológica asociada o un trastorno premaligno. No existe un tratamiento estándar y los resultados suelen ser fatales, con mediana de supervivencia general de 5 años.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC,Pei W, Grayson PC. Somatic mutations in UBA1 and severeadult-onset autoinflammatory disease. N Engl J Med 2020;383 (27): 2628-2638. doi: 10.1056/NEJMoa2026834.

  2. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. Themonogenic autoinflammatory diseases define new pathwaysin human innate immunity and inflammation. NatImmunol 2017; 18: 832-42. doi: 10.1038/ni.3777.

  3. Staels F, Betrains A, Woei AJS, Boeckx N, et al. Case report:VEXAS syndrome: from mild symptoms to life-threateningmacrophage activation syndrome. Front Immunol 2021; 12:678927. doi: 10.3389/fimmu.2021.678927.

  4. Tsuchida N, Kunishita Y, Uchiyama Y, Kirino Y, et al. PathogenicUBA1 variants associated with VEXAS syndromein Japanese patients with relapsing polychondritis. AnnRheum Dis 2021; 80 (8): 1057-1061. doi: 10.1136/annrheumdis-2021-220089.

  5. Hoffman HM, Broderick L. Editorial: It just takes one:somatic mosaicism in autoinflammatory disease. ArthritisRheumatol 2017; 69 (2): 253-256. doi: 10.1002/art.39961.

  6. Afsahi V, Christensen RE, Alam M. VEXAS syndrome indermatology. Arch Dermatol Res 2022. doi: 10.1007/s00403-022-02340-4.

  7. Oo TM, Koay JTJ, Lee SF, Lee SMS, Lim XR, Fan BE. Thrombosisin VEXAS syndrome. J Thromb Thrombolysis 2022; 53(4): 965-970. doi: 10.1007/s11239-021-02608-y.

  8. Van der Made CI, Potjewijd J, Hoogstins A, Willems H,et al. Adult-onset autoinflammation caused by somaticmutations in UBA1: a Dutch case series of patients withVEXAS. J Allergy Clin Immunol 2022; 149 (1): 432-439.e4.doi: 10.1016/j.jaci.2021.05.014.

  9. Ronsin C, Benard L, Mourtada A, Perrin F, et al. Acutetubulointerstitial nephritis revealing VEXAS syndrome.Letter to editor. Kidney Int 2022; P1295-1297. https://doi.org/10.1016/j.kint.2022.03.012.

  10. Ferrada MA, Sikora KA, Luo Y, Wells K, et al. Somaticmutations in UBA1 define a distinct subset of relapsingpolychondritis patients with VEXAS syndrome. ArthritisRheumatol 2021; 73 (10): 1886-95. doi: 10.1002/art.41743.

  11. Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, et al.French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON.Further characterization of clinical and laboratory featuresin VEXAS syndrome: large-scale analysis of a multicentrecase series of 116 French patients. Br J Dermatol 2022; 186(3): 564-574. doi: 10.1111/bjd.20805.

  12. Obiorah IE, Patel BA, Groarke EM, Wang W, et al. Benignand malignant hematologic manifestations in patientswith VEXAS syndrome due to somatic mutations in UBA1.Blood Adv 2021; 5 (16): 3203-3215. doi: 10.1182/bloodadvances.2021004976.

  13. Templé M, Kosmider O. VEXAS syndrome: A novelty inMDS landscape. Diagnostics (Basel) 2022; 12 (7): 1590.doi: 10.3390/diagnostics12071590.

  14. Bourbon E, Heiblig M, Gerfaud Valentin M, Barba T, DurelCA, Lega JC, Barraco F, Sève P, Jamilloux Y, Sujobert P.Therapeutic options in VEXAS syndrome: insights from aretrospective series. Blood. 2021; 137 (26): 3682-3684.https://doi.org/10.1182/blood.2020010177.

  15. Zhao LP, Schell B, Sébert M, Kim R, et al. Prevalence ofUBA1 mutations in MDS/CMML patients with systemicinflammatory and auto-immune disease. Leukemia 2021;35: 2731-2733. doi: 10.1038/s41375-021-01353-8.

  16. Poulter JA, Collins JC, Cargo C, De Tute R, et al. Novel somaticmutations in UBA1 as a cause of VEXAS syndrome. Blood2021; 137 (26): 3676-3681. doi: 10.1182/blood.2020010286.

  17. Gurnari C, Pagliuca S, Durkin L, Terkawi L, Awada H, KongkiatkamonS, Zawit M, Hsi ED, Carraway HE, Rogers HJ,Visconte V, Maciejewski JP. Vacuolization of hematopoieticprecursors: an enigma with multiple etiologies. Blood 2021;137 (26): 3685-3689. doi: 10.1182/blood.2021010811.

  18. Lazarchick J. Update on anemia and neutropenia in copperdeficiency. Curr Opin Hematol 2012; 19 (1): 58-60. doi:10.1097/MOH.0b013e32834da9d2.

  19. Schulman BA, Harper JW. Ubiquitin-like protein activationby E1 enzymes: the apex for downstream signalling pathways.Nat Rev Mol Cell Biol 2009; 10: 319-31. https://doi.org/10.1038/nrm2673.

  20. Sikora KA, Wells KV, Bolek EC, Jones AI, Grayson PC. Somaticmutations in rheumatological diseases: VEXAS syndromeand beyond. Rheumatology (Oxford) 2022; 61 (8): 3149-3160. doi: 10.1093/rheumatology/keab868.

  21. Barba T, Jamilloux Y, Durel CA, Bourbon E, Mestrallet F,Sujobert P, Hot A. VEXAS syndrome in a woman. Rheumatology(Oxford). 2021; 60 (11): e402-e403. doi: 10.1093/rheumatology/keab392.

  22. Patel BA, Young NS. Towards treatments for VEXAS. Br JHaematol 2022; 196 (4): 804-805. doi: 10.1111/bjh.17930.

  23. Koster MJ, Kourelis T, Reichard KK, Kermani TA, Beck DB,et al. Clinical heterogeneity of the VEXAS syndrome: Acase series. Mayo Clin Proc 2021; 96 (10): 2653-2659. doi:10.1016/j.mayocp.2021.06.006.

  24. Raaijmakers M, Hermans M, Aalbers A, Rijken M, et al.Azacytidine treatment for VEXAS syndrome. Hemasphere2021; 5: e661. doi: 10.1097/HS9.0000000000000661.

  25. Comont T, Heiblig M, Dion J, Rivière E, Terriou L, RossignolJ, et al; French VEXAS study group, Groupe Francophonedes Myélodysplasies (GFM) and MedecineINterne, HEmatoet ONco (MINHEMON) group. Azacitidine for patients withVacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somaticsyndrome (VEXAS) and myelodysplastic syndrome: datafrom the French VEXAS registry. Br J Haematol 2022; 196(4): 969-974. https://doi.org/10.1182/blood-2021-152363.

  26. Kirino Y, Takase-Minegishi K, Tsuchida N, Hirahara L,Kunishita Y, Yoshimi R, Nakajima H. Tocilizumab in VEXASrelapsing polychondritis: a single-center pilot study inJapan. Ann Rheum Dis 2021; 80 (11): 1501-1502. http://dx.doi.org/10.1136/annrheumdis-2021-220876.

  27. Heiblig M, Ferrada MA, Koster MJ, Barba T, Gerfaud-ValentinM, Mékinian A, Sujobert P. Ruxolitinib is more effectivethan other JAK inhibitors to treat VEXAS syndrome: a retrospectivemulticenter study. Blood 2022; 40 (8): 927-931.doi: 10.1182/blood.2022016642.

  28. Diarra A, Duployez N, Fournier E, Preudhomme C, et al.,on behalf of the French VEXAS study group. Successfulallogeneic hematopoietic stem cell transplantation inpatients with VEXAS syndrome: a 2-center experience.Blood Adv 2022; 6 (3): 998-1003. doi: 10.1182/bloodadvances.2021004749.

  29. Gurnari C, McLornan DP. Update on VEXAS and role ofallogeneic bone marrow transplant: Considerations onbehalf of the Chronic Malignancies Working Party of theEBMT. Bone Marrow Transplant 2022; 57: 1642-1648. doi:10.1038/s41409-022-01774-8.

  30. A phase II study of allogeneic hematopoietic stem cell transplantfor subjects with VEXAS (vacuoles, E1 enzyme, X-linked,autoinflammatory, somatic) syndrome. NCT05027945.




2020     |     www.medigraphic.com