Alexandru Stieber: Looking Beyond MDS in VEXAS Syndrome
Alexandru Stieber, Internal Medicine Resident at SUUMC Bucharest, shared a post on LinkedIn:
“Hematological involvement in VEXAS syndrome goes beyond myelodysplastic syndrome!!
As such, in male patients over 50 years of age with any form of monoclonal gammapathy and macrocytosis, we should at least consider the possibility of this autoinflammatory disease, especially if there is also systemic inflammation of unknown cause!!”
Romanian Group for Autoinflammatory Diseases (GRAI) shared a post on LinkedIn about a recent article by Verena Petzer et al., published in HemaSpere, adding:
“Although classically associated with myelodysplastic syndrome, the hematological involvement in VEXAS syndrome is quite heterogeneous, including monoclonal gammapathy (MG) such as MGUS or even multiple myeloma!!
As such, this intriguing study examined the relevance of the association between macrocytosis and MG in raising the suspicion of VEXAS syndrome for the appropriate patient profile.
- prevalence of UBA1 mutations was significantly higher in male patients from the high MCV (more than 96 fL) subgroup of MGs vs MG with normal MCV;
- the rate of UBA1 variant identification was higher than that noted in MDS cohorts;
- the patients with MG and high MCV showed an increased risk over time to develop myeloid malignancies, compared with the normal MCV subgroup, with a tendency towards lymphoproliferation
This landmark study cements our understanding that the hematological side of VEXAS syndrome goes beyond myelodysplasia and we should keep in mind this suspicion when faced with a monoclonal gammapathy with macrocytosis in an elderly male patient!!
Congratulations to David Haschka, Florian Kocher, Christina Duftner, Verena Vogi, Emina Jukic, Petzer Verena for this insightful research!!”
Title: Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS-linked UBA1 mutations
Authors: Verena Petzer, Wolfram Mayr, Eva Spoegler, Emina Jukic, Christoph Winkler, Verena Vogi, Normann Steiner, Christina Duftner, Andrea Griesmacher, Günter Weiss, Dominik Wolf, Florian Kocher, David Haschka
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