Year 2019 / Volume 111 / Number 8
Case Report
Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update

643-647

DOI: 10.17235/reed.2019.6250/2019

Marta Fernández Gil, Pilar López Serrano, Elena García García,

Abstract
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic skin hemangiomas and vascular malformations, mostly in the gastrointestinal (GI) tract. The GI lesions are mainly located in the stomach and small intestine, usually more than a hundred, leading to gastrointestinal bleeding and severe chronic anemia. Parenteral iron infusions and scheduled transfusions are frequently necessary. We describe the case of a 21-year-old male with anemia secondary to BRBNS, who becomes unresponsive to octreotide and shows an excellent response to sirolimus (SRL), dismissing the intravenous iron supplementations and being free of transfusions. During the treatment, the patient presents avascular hip necrosis, which is adequately treated with an injection of stem cells with complete recovery, and without the suspension of SRL. Two years later, adequate response persists with no other relevant side effects.
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References
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[2] Warner B, Butt A, Cairns S. Sirolimus is a successful treatment for recurrent iron deficiency anaemia in blue rubber bleb nevus syndrome. J Pediatr Gastroenterol Nutr. 2015;61:24
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Fernández Gil M, López Serrano P, García García E. Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update. 6250/2019


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Publication history

Received: 23/02/2019

Accepted: 29/03/2019

Online First: 24/06/2019

Published: 31/07/2019

Article Online First time: 121 days

Article editing time: 158 days


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