Published online Nov 16, 2022. doi: 10.12998/wjcc.v10.i32.11929
Peer-review started: June 24, 2022
First decision: August 21, 2022
Revised: September 16, 2022
Accepted: September 23, 2022
Article in press: September 23, 2022
Published online: November 16, 2022
Processing time: 137 Days and 1.3 Hours
Blue rubber bleb nevus syndrome is a rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. It is characterized by multiple vascular malformations of the skin, gastrointestinal tract, and other visceral organs. The most common symptoms are intermittent gastrointestinal bleeding and secondary iron deficiency anemia, thus requiring repeated blood transfusions and hospitalizations. It is easily missed and misdiagnosed, and there is no specific treatment.
We report a case of blue rubber bleb nevus syndrome combined with disseminated intravascular coagulation and efficacy of treatment with argon plasma coagulation under enteroscopy and sirolimus. A 56-year-old female patient was admitted to the hospital with 3-year history of fatigue and dizziness that had aggravated over the past 10 d with melena. The patient had a history of repeated melena and multiple venous hemangiomas from childhood. After treatment with argon plasma coagulation combined with sirolimus for nearly 8 wk, the patient’s serum hemoglobin increased to 100 g/L. At the 12-mo follow-up, the patient was well with stable hemoglobin (102 g/L) and no recurrent intestinal bleeding.
Argon plasma coagulation and sirolimus may be an efficacious and safe treatment for blue rubber bleb nevus syndrome, which currently has no recommended treatments.
Core Tip: We present a case of blue rubber bleb nevus syndrome (BRBNS) complicated with disseminated intravascular coagulation and intestinal obstruction. BRBNS is a rare disease characterized by multiple vascular malformations of the skin, gastrointestinal tract, and other visceral organs. It is easily missed and misdiagnosed, and there is no unified treatment. We treated the patient with antifibrinolytic medication, sirolimus and argon plasma coagulation under enteroscopy. We followed up the patient for 12 mo, she was well with stable hemoglobin level and the size of skin hemangioma became smaller. In a patient with obscure, recurrent intestinal bleeding a diagnosis of BRBNS should be considered.