Mark Heslin (@mark_heslin) 's Twitter Profile
Mark Heslin

@mark_heslin

Academic Hospitalist @Stanford | s/p IM @PennMedicine | @CPSolvers Member | @HDX Editor | Clinical Reasoning, Diagnostic Error, #MedEd | @CooperMedSchool | @JMU

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calendar_today30-12-2011 00:46:19

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VEXAS (X-linked) Mutation in UBA1, the enzyme that initiates ubiquitylation. Most pts meet criteria for rheum (RP, Sweets, PAN, GCA) and heme (MDS, MM) diseases. Clinical: -Macrocytic anemia -Fever -Rash -🫁 infiltrates -🦻& 👁️ inflammation -VTE BMBx shows vacuolization.

VEXAS (X-linked)

Mutation in UBA1, the enzyme that initiates ubiquitylation. 

Most pts meet criteria for rheum (RP, Sweets, PAN, GCA) and heme (MDS, MM) diseases. 

Clinical:
-Macrocytic anemia 
-Fever 
-Rash
-🫁 infiltrates
-🦻& 👁️ inflammation
-VTE

BMBx shows vacuolization.