Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: A case series

Pediatr Blood Cancer. 2022 Nov;69(11):e29970. doi: 10.1002/pbc.29970. Epub 2022 Sep 12.

Abstract

Blue rubber bleb nevus syndrome (BRBNS) commonly presents with anemia from bleeding gastrointestinal (GI) vascular malformations. Management is highly variable, as no consensus guidelines for medical treatment currently exist. Sirolimus has been used in BRBNS to decrease GI bleeding and seems well tolerated, though questions remain regarding dosing, duration of therapy, and adverse effects. Here, we report our single-center experience of four pediatric patients with BRBNS who were successfully treated with sirolimus and review the existing literature regarding sirolimus for treatment of GI bleeding in BRBNS. Further prospective studies are needed to establish optimal dosage, drug monitoring, and duration.

Keywords: GI bleeding; blue rubber bleb nevus syndrome; sirolimus; vascular malformation.

MeSH terms

  • Child
  • Gastrointestinal Neoplasms* / complications
  • Gastrointestinal Neoplasms* / drug therapy
  • Humans
  • Nevus, Blue* / complications
  • Nevus, Blue* / drug therapy
  • Sirolimus / adverse effects
  • Skin Neoplasms* / chemically induced
  • Skin Neoplasms* / complications
  • Skin Neoplasms* / drug therapy
  • Syndrome

Substances

  • Sirolimus

Supplementary concepts

  • Blue rubber bleb nevus syndrome