VEXAS syndrome — Aussie doctors solve diagnostic puzzle
VEXAS syndrome should be considered in patients with treatment-refractory inflammatory symptoms and cytopenia, the doctors say.
Australian doctors have solved a diagnostic puzzle in a patient, by identifying a rare genetic condition that was first described just five years ago.
The 74-year-old man presented with a four-month history of fatigue, breathlessness, malaise and left auricular pain, the authors wrote in an Australian Journal of General Practice case study.
He reported no fever or weight loss and denied any other focal symptomatology.
Doctors also noted a faint macular skin rash on the man’s torso and limbs, and three months earlier, he had had an unprovoked DVT in his lower left leg.
