This individual patient meta-analysis of 57 children with multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) from 34 studies establishes the condition's characteristic clinical triad: universal cutaneous involvement (100%), near-universal thrombocytopenia (93%), and gastrointestinal bleeding (92%). We identified novel sex dimorphism with males showing significantly higher pulmonary involvement than females (85% vs 29%; P = .022) and defined a diagnostic immunophenotype (CD31+/CD34+/LYVE-1+/GLUT-1-) that distinguishes MLT from similar vascular anomalies. These findings provide clinicians with evidence-based diagnostic criteria and support emerging mTOR-targeted therapies for this rare, life-threatening pediatric vascular disorder.
Carpi et al. (Thu,) studied this question.