Advances in Medical Therapies for Vascular Anomalies

In this session, Beth Drolet discusses advancements in medical therapies for vascular anomalies, particularly focusing on non-surgical and laser approaches. She acknowledges her involvement with a company developing a topical beta blocker for infantile hemangiomas and a trial using palasib for related issues. Drolet highlights the historical treatment methods, traditionally including surgery and hyper-destructive techniques, emphasizing the shift toward understanding the genetic factors behind vascular anomalies. Genetic mutations driving these conditions are often sporadic and not hereditary. She discusses notable genes, like PIK3CA, GNAQ, and RASA1, that play roles in vascular malformations. Targeted treatments, including the use of mTOR inhibitors like sirolimus for KHE and PIK3CA-related anomalies, are increasingly gaining attention for their efficacy and minimal side effects. Moreover, she introduces palasib, an oral PIK3CA inhibitor with promising results in shrinking vascular lesions and managing associated symptoms, leading to its recent FDA approval for specific cases in children and adults. Drolet concludes by emphasizing the need for ongoing research into these therapies and potential future treatments that may involve gene correction techniques.