Vascular Malformation Advancement, Debate and Consensus: A Review

Abstract

Background

Congenital vascular malformations encompass a wide spectrum of anomalies, ranging from isolated capillary, venous, lymphatic, and arteriovenous malformations to complex mixed forms. These anomalies may occur as solitary lesions with minimal impact or as part of syndromic conditions, which are associated with significant morbidity due to limb overgrowth and tissue abnormalities. Given their clinical heterogeneity and underlying genetic mechanisms, a comprehensive understanding of vascular malformations is essential for improving diagnostic accuracy and optimizing treatment strategies.

Objective

This study aims to systematically review the classification, pathogenesis, genetic factors, diagnostic approaches, and treatment modalities for vascular malformations.

Methods

A systematic review was conducted by searching PubMed, Scopus, Web of Science, and Google Scholar for peer-reviewed articles, clinical guidelines, and expert consensus statements on vascular malformations. Studies published within the last two decades were prioritized, with an emphasis on recent advancements. Inclusion criteria encompassed research on classification, pathogenesis, genetic factors, diagnostic approaches, treatment modalities, and ongoing debates in vascular malformation management.

Results

Genetic insights have redefined vascular malformation classification, with PIK3CA, TEK (TIE2), and RASA1 mutations playing a crucial role in pathogenesis. Advanced imaging techniques, including MRI and digital subtraction angiography (DSA), remain the gold standard for precise diagnosis, while genetic testing enhances diagnostic accuracy and guides personalized treatment. Conventional therapies such as sclerotherapy and embolization demonstrate 70–85% success rates; however, targeted molecular therapies, including Sirolimus and Alpelisib, have shown superior outcomes in PIK3CA-related cases.

Conclusion

The evolving landscape of vascular malformation management highlights the shift toward precision medicine, integrating advanced imaging, genetic diagnostics, and molecular-targeted therapies. Enhancing interdisciplinary collaboration and improving access to genetic testing will further refine treatment strategies, ensuring better outcomes and improved quality of life.

Recommendation

Future research should focus on large-scale clinical trials to establish standardized protocols for incorporating molecular therapies into routine clinical practice.