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Peripheral arteriovenous malformations: Diagnosis and future prospects.

Julien Coulie1, Miikka Vikkula2, Laurence M Boon1

  • 1Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, University of Louvain, VASCERN VASCA European Reference Centre, Brussels, Belgium; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

Presse Medicale (Paris, France : 1983)
|June 11, 2025
PubMed
Summary

Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies often linked to the RAS/RAF/MEK/ERK pathway. Current treatments face challenges with recurrence, necessitating improved, individualized therapies.

Keywords:
Arteriovenous malformationHigh-flow vascular malformationVascular anomaly

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Area of Science:

  • Vascular Biology and Medicine
  • Medical Genetics
  • Interventional Radiology

Background:

  • Peripheral arteriovenous malformations (AVMs) are rare, high-flow vascular anomalies.
  • They arise from errors in vasculogenesis/angiogenesis, often involving the RAS/RAF/MEK/ERK pathway.
  • AVMs present progressively, causing pain, bleeding, and potentially high-output cardiac failure.

Purpose of the Study:

  • To review diagnostic and therapeutic challenges of peripheral AVMs.
  • To highlight current management strategies and their limitations.
  • To discuss emerging therapies and future research directions for improved patient outcomes.

Main Methods:

  • Review of advanced imaging modalities (Doppler ultrasonography, MRI, angiography) for diagnosis.
  • Analysis of current treatment strategies including embolization, surgery, and endovascular therapies.
  • Evaluation of emerging antiangiogenic therapies (thalidomide, MEK inhibitors) and molecular genetics insights.

Main Results:

  • Accurate diagnosis requires advanced imaging for lesion extent and flow dynamics.
  • Incomplete treatment leads to high recurrence rates, underscoring the need for complete nidus removal.
  • Emerging therapies show promise in reducing recurrence and improving outcomes.

Conclusions:

  • Standardized treatment protocols integrating clinical, anatomical, and genetic data are needed.
  • Syndromic AVMs require broader considerations; molecular genetics offers targeted therapy potential.
  • Multidisciplinary approaches and refined combination therapies are crucial for individualized patient care.