[Two cases of VEXAS syndrome]. / VEXAS nytt autoinflammatoriskt syndrom med bred symtombild.
Lakartidningen
; 1192022 09 07.
Article
em Sv
| MEDLINE
| ID: mdl-36082915
ABSTRACT
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly discovered syndrome caused by a somatic mutation in the UBA1 gene, located in the X chromosome. The syndrome mainly affects older men, and presents with persistent inflammation and rheumatological symptoms like polychondritis, lung infiltrates and dermatitis. Related hematological disturbances are thromboembolic events, macrocytic anemia, myelodysplastic syndrome, and vacuoles found in bone marrow hematopoietic cells. A genetic test of the UBA1 gene confirms the diagnosis when a clinical suspicion of VEXAS is raised. Patients usually respond to prednisolone at a dose of 15-20 mg/day but an effective and well tolerated long-term treatment strategy is still to be defined. The only potentially curative treatment is allogeneic stem cell transplantation. In this case report we present two cases of VEXAS, one of which has undergone an allogeneic stem cell transplantation.
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
/
Transplante de Células-Tronco Hematopoéticas
Tipo de estudo:
Diagnostic_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
Sv
Ano de publicação:
2022
Tipo de documento:
Article