Safety and efficacy of sirolimus in patients with refractory vascular anomalies

Abstract

Background Vascular anomalies are a heterogeneous group of anomalies. The majority follow a benign course. However, some, for example, kaposiform hemangioendotheliomas, may be life threatening. Many lines of treatment have been described; however, no single agent is always successful. It has been suggested that Mammalian Target of Rapamycin (mTOR) inhibitors such as sirolimus could be beneficial. Patients and methods Twelve patients with different vascular malformations refractory to different modes of treatment presented to our vascular malformations clinic, including three patients with Klippel-Trenuany Syndrome, three with kaposiform haemangioendothelioma, two with hereditary hemorrhagic telangiectasia, two with Parkes Weber syndrome, and two with lymphatic malformations. The patients were clinically examined, and them and their caregivers were asked to fill the pediatric quality-of-life inventory version 4.0 (pedsQL Generic Core Scale). Then they were put on oral sirolimus 0.8 mg/m2 adjusted to achieve serum level 10–15 ng/ml. Participants were followed up prospectively and asked to fill the quality-of-life assessment form once more after 12 months. Results Mean age of participants was 7.9 years with female predominance (8/12). Mean duration of treatment was 14.6 months. All the 12 patients significantly improved on sirolimus regarding quality-of-life score and symptoms. Conclusion Sirolimus is a valid and safe option in the treatment of refractory vascular malformations.