[Two cases of VEXAS syndrome]. / VEXAS nytt autoinflammatoriskt syndrom med bred symtombild.
Lakartidningen
; 1192022 09 07.
Article
de 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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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Syndromes myélodysplasiques
/
Transplantation de cellules souches hématopoïétiques
Type d'étude:
Diagnostic_studies
Limites:
Aged
/
Humans
/
Male
Langue:
Sv
Journal:
Lakartidningen
Année:
2022
Type de document:
Article