[Macrocytic anemia and polychondritis: VEXAS syndrome]. / Makrozytäre Anämie und Polychondritis: VEXAS-Syndrom.
Z Rheumatol
; 83(3): 229-233, 2024 Apr.
Article
em De
| MEDLINE
| ID: mdl-36735069
ABSTRACT
An adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, Xlinked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to recognizing patients with VEXAS syndrome.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Policondrite Recidivante
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Dermatopatias Genéticas
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Doenças Autoimunes
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Síndromes Mielodisplásicas
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Doenças Reumáticas
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Anemia Macrocítica
Limite:
Adult
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Humans
Idioma:
De
Ano de publicação:
2024
Tipo de documento:
Article