Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study

In a prospective study of 11 patients (4 males and 7 females) with Blue Rubber Bleb Nevus Syndrome (BRBNS), treatment with sirolimus showed a significant reduction in lesion size by 7.4%, 9.3%, and 13.0% at 3, 6, and 12 months, respectively, with corresponding p-values of <0.001, <0.001, and <0.05. Hemoglobin levels increased significantly after 6 and 12 months of treatment (p=0.006 and p=0.019, respectively), and only one patient required a blood transfusion during the study period. Quality of life and coagulation function improved for patients. Mild adverse effects were reported, including oral ulcers (81.8%), acne (27.3%), transient elevation of liver enzymes (18.2%), and hair loss (9.1%). These results suggest that sirolimus is an effective first-line treatment for gastrointestinal and cutaneous venous malformations in BRBNS, with manageable side effects.