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VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management by Matthew J. Koster; Terra L. Lasho; Horatiu Olteanu; Kaaren K. Reichard; Abhishek Mangaonkar; Kenneth J. Warrington; Mrinal M. Patnaik is a Medicine article available to read on EtoBox.

What is VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management about?

## Abstract VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a newly identified disease caused by somatic alterations in __UBA1__ which produce a recalcitrant inflammatory state along with hematologic disturbances. Patients with VEXAS can have a wide spectrum of clinical symptoms and providers should be familiar with the heterogeneity of associated clinical features. While hematologic parameters may be generally non‐specific, peripheral blood features of macrocytosis, monocytopenia, and/or thrombocytopenia coupled with bone marrow vacuolization of erythroid or myeloid precursors should raise suspicion for this condition. Due to an increased mortality, prompt recognition and accurate diagnosis is paramount. Access to testing for confirmation of __UBA1__ variants is not yet universally available but clinicians should understand the current available options for genetic confirmation of this disease. Treatment options are limited due to lack of prospective clinical trials but cytokine directed therapies such as interleukin‐6 inhibitors and JAK–STAT inhibitors as well as hypomethylating agents such as azacitidine have shown evidence of partial effect. Though

Who reads VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management?

Author

Matthew J. Koster; Terra L. Lasho; Horatiu Olteanu; Kaaren K. Reichard; Abhishek Mangaonkar; Kenneth J. Warrington; Mrinal M. Patnaik

Publisher

Wiley

Published

2023

Field

Medicine (Health Sciences)