Moving towards a personalized approach in the management of vascular malformations

Vascular malformations are complex congenital lesions of the vascular or lymphatic system consisting of dilated and dysfunctional vessels that generally have a tortuous structure. The lesions portray a wide clinical spectrum with heterogeneity in involved vessel type, anatomical location, tissue extension, and lesion size. Dependent on these clinical aspects, vascular malformations may cause a variety of symptoms, including functional problems, pain, disfigurement of appearance, and psychosocial problems. These disparities between patients call for an individualized approach to their management.
This thesis addressed several aspects of a personalized approach to the management of vascular malformations. Recent discoveries have pointed out that vascular malformations are caused by somatic and germline mutations in various genes regulating growth. In this thesis we investigated on how these underlying mutations lead to clinical differences and how the genetic base should be incorporated into the management of vascular malformations. Secondly, patient-reported outcome measures (PROMs) reflect the self-reported health state of the patient directly and are able to measure the effect of treatment at the individual level. We developed measurement instruments to evaluate the condition-specific core outcome domains. Finally, we investigated how the specific lesion characteristics lead to certain symptoms and how this subsequently affects the health-related quality of life in the individual patient.