Transitioning Care in Blue Rubber Bleb Nevus Syndrome

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare venous malformation disorder characterized by multifocal cutaneous and visceral lesions, most commonly involving the gastrointestinal tract. These lesions may cause chronic occult bleeding, iron-deficiency anemia, pain crises, and occasionally life-threatening hemorrhage. Sirolimus, an mechanistic target of rapamycin inhibitor, has emerged as a promising systemic therapy for venous malformations, with growing evidence supporting its use in BRBNS across pediatric and adult populations. We report the long-term course of a male patient with BRBNS who first presented in early childhood with progressive visceral lesions and chronic anemia. He demonstrated significant clinical improvement with sirolimus therapy, with recurrence of profound anemia during a period of adolescent nonadherence. Now in his early 20s, he remains clinically stable on maintenance therapy. This case highlights the durability of sirolimus response, the risks of interruption, and the importance of long-term adherence.