Update on classification and diagnosis of vascular malformations

Area of Science:

• Vascular Biology and Medicine
• Genetics and Syndromology

Background:

• Vascular anomalies are common and require updated classification for accurate diagnosis and management.
• The International Society for the Study of Vascular Anomalies (ISSVA) periodically revises its classification system.

Purpose of the Study:

• To provide an updated classification of vascular anomalies since the April 2014 ISSVA meeting.
• To familiarize readers with the diagnosis of major vascular malformations and associated syndromes.

Main Methods:

• Review of updated classification criteria for vascular anomalies.
• Clarification of diagnostic features for capillary, venous, arteriovenous, and lymphatic malformations.
• Description of key vascular malformation syndromes, including those with overgrowth.

Main Results:

• An updated classification of vascular anomalies is presented.
• Diagnostic criteria for major vascular malformations (capillary, venous, arteriovenous, lymphatic) are clarified.
• Several vascular malformation syndromes, including PIK3Ca-Related Overgrowth Syndromes and others, are detailed.

Conclusions:

• Vascular malformations are prevalent, with capillary malformations now better understood.
• Verrucous hemangioma is reclassified as a venulocapillary malformation.
• Understanding the genetic basis of vascular malformations is crucial for future therapeutic strategies.