HHT (Osler Weber Rendu)

FACTS

  • AD condition
  • genetics: mutation in genes of (TGF)-β superfamily in endothelial cells → abnormally weak vessels
  • multiple vascular malformations in lungs, brain, and viscera

HPI

  • epistaxis is most common presentation

PHYSICAL EXAM

IMAGING

notion image
A/P

DDx: both VHL and HHT may have cerebral AVMs, but VHL usually in cerebellum