RESUMO
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.
Assuntos
Anemia/etiologia , Antibióticos Antineoplásicos/uso terapêutico , Neoplasias Gastrointestinais/complicações , Nevo Azul/complicações , Sirolimo/uso terapêutico , Neoplasias Cutâneas/complicações , Antibióticos Antineoplásicos/efeitos adversos , Necrose da Cabeça do Fêmur/induzido quimicamente , Necrose da Cabeça do Fêmur/cirurgia , Fármacos Gastrointestinais/uso terapêutico , Neoplasias Gastrointestinais/tratamento farmacológico , Humanos , Masculino , Nevo Azul/tratamento farmacológico , Octreotida/uso terapêutico , Sirolimo/efeitos adversos , Neoplasias Cutâneas/tratamento farmacológico , Transplante de Células-Tronco , Adulto JovemRESUMO
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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