VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge.
Virginie KreutzingerAnne PankowZhivana BoyadzhievaUdo SchneiderKatharina ZiegelerLars Uwe StephanJan Carl KübkeSebastian SchröderChristian OberenderPhilipp le CoutreSebastian StinzingIvan JelasPublished in: Journal of clinical medicine (2024)
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with VEXAS syndrome and comorbid myelodysplastic syndrome (MDS) aims to describe clinical, imaging, and hematologic disease presentations as well as response to therapy. Four patients with VEXAS syndrome and MDS are described. A detailed analysis of imaging features, hemato-oncological presentation including bone marrow microscopy and clinical-rheumatological disease features and treatment outcomes is given. All patients were male; ages ranged between 64 and 81 years; all were diagnosed with MDS. CT imaging was available for three patients, all of whom exhibited pulmonary infiltrates of varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces of scarring. Bone marrow microscopy showed maturation-disordered erythropoiesis and pathognomonic vacuolation. Somatic mutation in the UBA1 codon 41 were found in all patients by next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, as well as IL-1 and IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18-68 months). Given the potential underreporting of VEXAS syndrome, we highly recommend contemporary screening for UBA1 mutations in patients presenting with ambiguous signs of systemic autoinflammatory symptoms which persist over 18 months despite treatment. The emergence of cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing for UBA1 mutations. Notably conspicuous, pulmonary alterations in CT imaging of patients with therapy-resistant systemic autoinflammatory symptoms should be discussed in interdisciplinary medical teams (Rheumatology, Hematology, Radiology and further specialist departments) to facilitate timely diagnosis during the clinical course of the disease.
Keyphrases
- bone marrow
- high resolution
- end stage renal disease
- chronic kidney disease
- ejection fraction
- newly diagnosed
- case report
- pulmonary hypertension
- prognostic factors
- healthcare
- mesenchymal stem cells
- prostate cancer
- stem cells
- sars cov
- magnetic resonance imaging
- palliative care
- patient reported outcomes
- machine learning
- magnetic resonance
- contrast enhanced
- mass spectrometry
- patient reported
- fluorescence imaging
- risk assessment
- physical activity
- gene expression
- positron emission tomography
- molecular docking
- dual energy
- minimally invasive
- sleep quality
- circulating tumor