Blue Rubber Bleb Nevus Syndrome because of 12 Years of Iron Deficiency Anemia in a Patient by Double Balloon Enteroscopy; A Case Report and Review of Literature.
Arash Dooghaie Moghadam,Mohammad Sadegh Bagheri,Pegah Eslami,Ermia Farokhi,Amir Nezami Asl,Karim Khavaran,Shahrokh Iravani,Sandra Saeedi,Azim Mehrvar,Masoud Dooghaie-Moghadam +9 more
TLDR
A 20-year-old woman was referred to the authors' hospital after transfusion of six units of packed cell because of several episodes of lower GI bleeding within the past three months in the form of melena and a single episode of hematochezia.Abstract:
Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder comprised of venous malformation mostly involving the skin and gastrointestinal (GI) tract but can also involve other visceral organs. The most predominant site of GI tract involvement is the small bowel. In patients with GI lesions, treatment depends on the severity of bleeding, and extent of involvement. Conservative therapy with iron supplementation and blood transfusion is appropriate in cases with mild bleeding but in severe cases endoscopic and surgical interventions would be beneficial. Also, medical therapy with sirolimus significantly reduces bleeding. A 20-year-old woman was referred to our hospital after transfusion of six units of packed cell because of several episodes of lower GI bleeding within the past three months in the form of melena and a single episode of hematochezia. Her last hemoglobin level before admission was 10mg/dl. She underwent various unsuccessful investigations since she was eight years old to find the origin of refractory iron deficiency anemia. In upper endoscopy, five bleeding polypoid lesions were discovered in the jejunum. Lesions were excised by snare polypectomy. Over a six-month follow-up period, no signs of lower GI bleeding were noted and the patient had a normal hemoglobin level.read more
Citations
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Clipping with double-balloon endoscopy for small intestinal venous malformations in a patient with blue rubber bleb nevus syndrome
TL;DR: This is the first report in the English literature on BRBNS with hemangiomas in the small intestine that were treated successfully by endoscopic clipping using double-balloon endoscopy.
Journal ArticleDOI
Endoscopic and Surgical Management of Blue Rubber Bleb Nevus Syndrome
TL;DR: A 20-year-old patient with blue rubber bleb nevus syndrome with multiple lesions in the stomach, duodenal bulb, small bowel, sigmoid, and descending colon who underwent successful endoscopic mucosal resection, hybrid endoscopic submucosal dissection, and surgical transmural resection of vascular lesions for recurrent bleeding is presented.
Journal ArticleDOI
Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome
Shingo Unoura,Yosuke Toya,Satoshi Kasugai,Tomo Kumei,Masanao Yamazato,Yutaka Sasaki,Makoto Eizuka,Tomofumi Oizumi,Toshifumi Morishita,Seiya Tagane,T Shiohata,Shunichi Yanai,Manami Akasaka,Takayuki Matsumoto +13 more
TL;DR: A 14‐year‐old girl, who had been diagnosed with blue rubber bleb nevus syndrome, was referred to the authors' hospital because of iron deficiency anemia and esophagogastroduodenoscopy revealed a dark and red‐colored vascular malformation occurring just above the duodenal papilla.
References
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Journal ArticleDOI
Blue Rubber Bleb Nevus Syndrome: Surgical Eradication of Gastrointestinal Bleeding
Steven J. Fishman,C. Jason Smithers,Judah Folkman,Dennis P. Lund,Patricia E. Burrows,John B. Mulliken,Victor L. Fox +6 more
TL;DR: The largest clinical experience to date of surgically treated patients with blue rubber bleb nevus syndrome (BRBNS) suggests that an aggressive excisional approach is indicated for the venous anomalies that cause GI bleeding in BRBNS.
Journal ArticleDOI
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations
Julie Soblet,Jaakko Kangas,Marjut Nätynki,Antonella Mendola,Raphaël Helaers,Mélanie Uebelhoer,Mika Kaakinen,Maria R. Cordisco,Anne Dompmartin,Odile Enjolras,Simon Holden,Alan D. Irvine,Loshan Kangesu,Christine Léauté-Labrèze,Agustina Lanoel,Zerina Lokmic,Saskia M. Maas,Maeve A. McAleer,Anthony J. Penington,Paul N.M.A. Rieu,S. Syed,Carine J.M. van der Vleuten,Rosemarie Watson,Steven J. Fishman,John B. Mulliken,Lauri Eklund,Nisha Limaye,Laurence M. Boon,Laurence M. Boon,Miikka Vikkula +29 more
TL;DR: Somatic mutations in TEK, the gene encoding TIE2, were discovered in 15 of 17 individuals with blue rubber bleb nevus syndrome and in five of six individuals with sporadically occurring multifocal venous malformations.
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Blue Rubber Bleb Nevus Syndrome: Successful Treatment With Sirolimus
TL;DR: The case of an 8-year-old girl with diagnosed BRBNS who had multiple venous malformations all over her body, importantly, throughout the gastrointestinal tract, mouth, esophagus, stomach, small bowel, and colon is described.
Journal ArticleDOI
Blue rubber bleb nevus syndrome: a case report and literature review.
TL;DR: A case of BRBNS is presented in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia.
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Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation
Walter K. Nahm,Sharon Moise,Sharon Moise,Lawrence F. Eichenfield,Amy S. Paller,Laura Nathanson,Denise M. Malicki,Sheila Fallon Friedlander +7 more
TL;DR: 3 cases are described to delineate the venous malformations of BRBNS and to highlight their variable onset of presentation and progression, which may be evident even in the prenatal period.