A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis.
Blood Cells Mol Dis
; 93: 102636, 2022 03.
Article
in En
| MEDLINE
| ID: mdl-34864445
ABSTRACT
Vacuoles, E1, X-linked, autoimmunity, somatic (VEXAS) syndrome is characterized by a pathogenic mutation in UBA1, which leads to protean complications including autoimmunity and myelodysplasia. A 56-year-old man with steroid-dependent, later steroid-refractory cutaneous polyarteritis nodosa and Sweet syndrome developed recurrent daily fever, macrocytic anemia, thrombocytopenia, acute hypoxic respiratory failure, and anasarca. He was eventually diagnosed with Epstein-Barr virus (EBV) viremia and hemophagocytic lymphohistiocytosis (HLH). He improved clinically with rituximab, ruxolitinib, and increased glucocorticoids before expiring from Pseudomonas sepsis. UBA1 exon 3 mutational analysis in myeloid enriched peripheral blood revealed a c.122T>C (p.Met41Thr) pathogenic variant, consistent with VEXAS syndrome. We describe the first case of EBV-associated HLH in a patient diagnosed with VEXAS syndrome. Early identification of this syndrome will be important in order to offer potential therapies before life-threatening complications arise.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Myelodysplastic Syndromes
/
Epstein-Barr Virus Infections
/
Lymphohistiocytosis, Hemophagocytic
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Blood Cells Mol Dis
Journal subject:
HEMATOLOGIA
Year:
2022
Type:
Article
Affiliation country:
United States