TY - JOUR
T1 - Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome
T2 - A multi-center case series
AU - Isoldi, Sara
AU - Belsha, Dalia
AU - Yeop, Intan
AU - Uc, Aliye
AU - Zevit, Noam
AU - Mamula, Petar
AU - Loizides, Anthony Meneloas
AU - Tabbers, Merit
AU - Cameron, Don
AU - Day, Andrew S.
AU - Abu-El-Haija, Marwa
AU - Chongsrisawat, Voranush
AU - Briars, Graham
AU - Lindley, Keith J.
AU - Koeglmeier, Jutta
AU - Shah, Neil
AU - Harper, John
AU - Syed, Samira Batul
AU - Thomson, Mike
N1 - Publisher Copyright:
© 2019 Editrice Gastroenterologica Italiana S.r.l.
PY - 2019/11
Y1 - 2019/11
N2 - Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. Aims: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied. Patients and methods: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. Results: Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority. Conclusions: Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.
AB - Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. Aims: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied. Patients and methods: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. Results: Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority. Conclusions: Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.
KW - Gastrointestinal bleeding
KW - Paediatrics
KW - Sirolimus
KW - Vascular malformations
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U2 - 10.1016/j.dld.2019.04.020
DO - 10.1016/j.dld.2019.04.020
M3 - Article
C2 - 31358484
AN - SCOPUS:85069683127
SN - 1590-8658
VL - 51
SP - 1537
EP - 1546
JO - Digestive and Liver Disease
JF - Digestive and Liver Disease
IS - 11
ER -