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

The prospective study evaluated the efficacy and safety of sirolimus in 11 patients (4 males, 7 females) with Blue Rubber Bleb Nevus Syndrome (BRBNS), aged 5-49 years. Sirolimus treatment at 1.0 mg/m² significantly reduced the average lesion size by 7.4%, 9.3%, and 13.0% at 3, 6, and 12 months, respectively (P < 0.05). Hemoglobin levels increased significantly after 6 and 12 months (P = 0.006 and 0.019), and only 1 patient required a blood transfusion. Quality of life and coagulation function improved, with mild and self-limited adverse effects such as oral ulcers (81.8%), acne (27.3%), transient liver enzyme elevation (18.2%), and hair loss (9.1%). The study concluded that sirolimus effectively reduces VM size, alleviates GI bleeding, and eliminates transfusion dependence in BRBNS patients, supporting its use as a first-line treatment.