What is a vascular malformation?

Vascular anomalies are abnormalities of any part of the vascular system. This can include veins, arteries, lymphatics, or capillaries. These abnormalities are present at birth, although they might not be identified or diagnosed until later in life.  Vascular anomalies can grow over time as the child grows, and they often get worse during puberty and pregnancy. Sometimes, people with vascular anomalies can also have excessive growth of muscles, bones, or fat. Occasionally, people with vascular anomalies also have abnormal brain development. If someone has a vascular anomaly plus these other abnormalities, they are often diagnosed with a syndrome. 

Types of vascular anomalies and syndromes that we manage:

  • Hemangiomas
  • Capillary vascular malformations (port-wine stains)
  • Arterial malformations
  • Venous malformations
  • Arteriovenous malformations
  • Lymphatic malformations
  • Complex combined malformations including some genetic syndromes:
    • Sturge-Weber syndrome
    • Blue rubber bleb syndrome
    • Glomovenous syndrome
    • PIK3CA overgrowth syndrome (PROS)
      • Klippel-Trenaunay syndrome
      • CLOVES syndrome (a collection of conditions that may include congenital lipomas overgrowth, vascular malformations, epidermal moles, and spinal abnormalities)
    • Parkes-Weber syndrome and CM-AVM syndrome
    • Fibroadipose Vascular Anomaly (FAVA)
    • PIK3CA overgrowth syndrome (PROS) 
  • Hereditary hemorrhagic telangiectasia (HHT)
  • Congenital Lymphedema

Treatment Options

  • Medical therapy with targeted inhibitors
    • Sirolimus
    • Alpelisib
    • rametinib
  • Topical therapy (ointments and creams)
  • Sclerotherapy
  • Laser therapy (NdYag and CO2)
  • Surgery
  • Occupational therapy, physical therapy, and compression
  • Genetic testing