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Vascular malformations syndromes: an update.

Antonio Martinez-Lopez1,2, Luis Salvador-Rodriguez1, Trinidad Montero-Vilchez1

  • 1Dermatology Unit, Hospital Universitario Virgen de las Nieves.

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This review updates knowledge on vascular malformation syndromes, including PIK3CA-related overgrowth spectrum (PROS) and hereditary hemorrhagic telangiectasia. New genetic findings and therapies like bevacizumab offer improved treatment strategies.

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Area of Science:

  • Vascular biology and genetics
  • Medical genetics
  • Syndromology

Background:

  • Vascular malformations are complex conditions often associated with other anomalies, such as overgrowth.
  • Recent advancements have improved understanding of their genetic underpinnings and clinical management.

Purpose of the Study:

  • To provide an update on vascular malformation syndromes.
  • To incorporate the latest International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification.
  • To review recent genetic findings and therapeutic strategies.

Main Methods:

  • Comprehensive review of recent scientific literature.
  • Analysis of new genetic discoveries and their implications.
  • Evaluation of emerging therapeutic interventions.

Main Results:

  • Discussion of PIK3CA-related overgrowth spectrum (PROS) disorders, including CLOVES and Klippel-Trénaunay syndromes.
  • Highlighting Proteus syndrome and its genetic basis (AKT1 mutation).
  • Emphasis on high thrombosis risk in CLOVES, Klippel-Trénaunay, and Proteus syndromes.
  • Overview of hereditary hemorrhagic telangiectasia and its arteriovenous malformations.
  • Promising results with new therapies such as bevacizumab and thalidomide.

Conclusions:

  • Vascular malformation syndromes are diverse, with significant genetic components and associated risks.
  • The 2018 ISSVA classification provides a framework for understanding these conditions.
  • Emerging therapies show promise for improved patient outcomes.