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Defining vascular anomaly phenotypes in children based on a systematic literature search: A critical step in

Laurence Gariépy-Assal1, Josée Dubois2,3,4,5, Kelley Zwicker4,6

  • 1Pediatric Residency Program, CHU Sainte-Justine, Université de Montréal, Montréal, Quebec, Canada.

Pediatric Blood & Cancer
|June 22, 2022
PubMed

Insights

This study identified two main clinical phenotypes in children with vascular anomalies (VA). These distinct systemic and functional phenotypes could form the basis for a unified VA severity scoring system.

Area of Science:

  • Vascular biology and medicine
  • Pediatric genetics and therapeutics

Background:

  • Genetically targeted drugs are used for vascular anomalies (VA) without a validated severity score.
  • Accurate VA severity assessment is crucial for guiding treatment decisions.

Purpose of the Study:

  • To evaluate the feasibility of a unified severity score for VA.
  • To group distinct clinical characteristics of VA into a single assessment tool.

Main Methods:

  • Systematic literature review of children treated with sirolimus for VA.
  • Extraction of demographic data and clinical features to define phenotypes.

Main Results:

  • Vascular anomalies (VA) present with two primary, potentially overlapping phenotypes: systemic and functional.
  • Systemic phenotype: invasion of vital structures, hospitalization, and aggressive infant management.
  • Functional phenotype: chronic pain and disability in adolescence, managed outpatient.

Conclusions:

  • The identified systemic and functional phenotypes provide a foundation for a unified VA severity scoring system.
  • A validated scoring system could improve the management of pediatric vascular anomalies.
Abstract

Keywords:
burdenchildrendrugspediatricspharmacodynamicsseverity scoresirolimustargeted treatmentvascular anomalyvascular malformationvascular tumor

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