The article discusses the current state of targeted treatments for vascular malformations, which are abnormal blood vessels that arise from errors in the development of the vascular system. These malformations can take the form of capillary, lymphatic, venous, or arteriovenous (fast-flow) types. Traditional treatments, such as sclerotherapy and surgery, are often ineffective in complex cases.
Recent insights show that many vascular malformations result from hereditary or somatic mutations similar to those found in cancer. These mutations activate signaling pathways such as PI3K-AKT-mTOR and RAS-MAPK-ERK. Therefore, cancer medications are promising for the treatment of vascular malformations.
The article explores the potential of molecular inhibitors, particularly targeting slow- and fast-flow vascular malformations, with a focus on situations such as prenatal treatment and coagulopathies (blood clotting disorders). For example, sirolimus has been successfully used to treat a lymphatic malformation in utero. Future research should focus on improving treatment by identifying genetic predictors of response.
Prof. Dr. Laurence Boon and Prof. Dr. Miikka Vikkula are advisors of our organisation.
