Thread by @HCC_HemeCancer

"VEXAS SYNDROME", a multidisciplinary team of researchers @genome_gov have identified this new disorder:
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➡️Monogenic adult-onset autoinflammatory disease affecting males ♂️👨‍👦

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➡️Caused by a mutation in the UBA1 gene 🧬 that encodes major E1 enzyme that initiates ubiquitylation
➡️Suggests postzygotic somatic mutation may be a more frequent cause of human disease👨
➡️Patients develop inflammatory symptoms🔥and hematological abnormalities🩸👇

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🔥🔥INFLAMMATORY SYMPTOMS
👉Fatigue 😫
👉Recurrent fever 🤒🌡️
👉Lung infiltrates 🫁
👉Skin lesions🔴
👉Ear chondritis👂
👉and vasculitis

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🩸HEMATOLOGICAL ABNORMALITIES
👉Macrocytic anemia
👉Thrombocytopenia
👉Thrombosis
👉MDS
👉Myeloma
➡️MDS transformation to MDS with excess blasts or AML has not been noted(N Engl J Med 2020; 383:2628-2638)
➡️Some patients with thrombosis had recurrence while on anticoags💊🔁

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➡️CLINICAL MANIFESTATIONS (PANELS) 1/2
A: Lung involvement included pulmonary infiltrates & pleural effusions
B: Vasculitis of med. sized bronchial arteries
C: Neutrophilic alveolitis
D: Characteristic vacuoles present in myeloid precursor cells from bone marrow aspirates

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➡️CLINICAL MANIFESTATIONS (PANELS) 2/2
Cutaneous manifestations
E: Neutrophilic dermatosis with small to med.vessel vasculitis
F: Tender plaques
G: Cartilaginous involvement included auricular chondritis
H: Nasal chondritis, sometimes associated with periorbital inflamm🔥

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👉Hematoxylin and eosin staining was used in Panels B, C, and E, and Wright–Giemsa staining was used in Panel D
➡️MORPHOLOGY👇

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➡️PET-CET in VEXAS Syndrome👇

References:
i.nejm.org/doi/10.1056/NE…
ii.ashpublications.org/blood/article-…

#hematology #clinicalresearch #collaborativeresearch #realworldevidence #oncology #lymsm #mmsm #bloodcancer #leusm #MedEd #CLL #lymphoma #MedTwitter #VEXASsyndrome #tweetorial