Objective: Lymphatic malformations cause significant symptoms and functional deficits. Patients seek care for functional and symptomatic effects of their disease, but current disease burden and treatment outcome measures focus primarily on anatomy and histopathology. The authors describe disease impacts reported by patients and parents as a step toward more comprehensive disease burden assessments.
Study design: Cross-sectional.
Setting: Children's hospital vascular anomaly clinic.
Subjects and methods: Participants were recruited through a pediatric vascular anomaly clinic. A panel of senior pediatric otolaryngologists and an outcomes scientist developed interview questions based on clinical and research experience and available literature. The outcomes scientist conducted parent and adolescent interviews. The panel reviewed responses to define relevant items within functional domains. Participants rated impact on daily life for each domain.
Results: Thirty-one participants represented all 5 de Serres stages (mean [SD] age, 9 [6] years; n = 11 adolescents and 20 parents). Adolescents reported frequent sickness as the domain with greatest impact. Sleep was more affected in adolescents with higher stage lesions. Parents of younger children reported greatest impact on breastfeeding. For adolescents, lesion stage predicted perceived social stigma (controlling for age), whereas increasing age was associated with greater impact from swelling (controlling for stage). For parents, stage predicted breastfeeding impact (controlling for stage).
Conclusion: This is the first detailed assessment of patient- and parent-reported functional and symptomatic impacts of head and neck lymphatic malformations. Both adolescent patients and parents of younger children reported significant symptom and functional effects of this disease.