Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Blue rubber bleb nevus syndrome : A European multicenter cohort study

Becq, Aymeric ; Bisdorff, Annouk ; Riccioni, Maria Elena ; Blaise, Sophie ; Mallet, Stéphanie ; Toth, Ervin LU ; Maruani, Annabel ; Despott, Edward ; Labreze, Christine and Cortegoso Valdivia, Pablo , et al. (2024) In Digestive and Liver Disease
Abstract

Background and aim: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular entity, mainly characterized by cutaneous and gastrointestinal venous malformations. BRBNS remains relatively unexplored and only limited descriptive data is available. The aim of this study was to evaluate the clinical features, diagnostic work-up and therapeutic management in current practice. Methods: A multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected. Results: In this multicenter cohort study including 44 patients, BRBNS is diagnosed at a median age of 12 years, mainly based on clinical presentation (65.9 %). The majority of... (More)

Background and aim: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular entity, mainly characterized by cutaneous and gastrointestinal venous malformations. BRBNS remains relatively unexplored and only limited descriptive data is available. The aim of this study was to evaluate the clinical features, diagnostic work-up and therapeutic management in current practice. Methods: A multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected. Results: In this multicenter cohort study including 44 patients, BRBNS is diagnosed at a median age of 12 years, mainly based on clinical presentation (65.9 %). The majority of patients present cutaneous (68.2 %) and digestive (79.5 %) lesions, mainly in the colon and small bowel. D-dimer and fibrinogen levels are checked in <50 % of patients at diagnosis. Tie2/TEK mutation testing is rarely performed. Gastrointestinal bleeding is the most common complication (54.3 %), requiring endoscopic treatment (36.4 %) by various techniques. Conclusions: This is the largest cohort study on BRBNS. Diagnosis is mainly based on clinical presentation. D-dimer, fibrinogen and Tie2/TEK mutation testing should be performed in case of suspected BRBNS as it could help confirm the diagnosis.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; and (Less)
author collaboration
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
Blue rubber bleb nevus syndrome, Gastrointestinal bleeding, Gastrointestinal endoscopy, Sirolimus, Vascular malformations
in
Digestive and Liver Disease
publisher
Elsevier
external identifiers
  • scopus:85206876878
  • pmid:39426903
ISSN
1590-8658
DOI
10.1016/j.dld.2024.10.001
language
English
LU publication?
yes
id
2b59958d-f658-41e4-b5e0-cd0bde353837
date added to LUP
2025-01-14 14:38:07
date last changed
2025-07-16 05:36:11
@article{2b59958d-f658-41e4-b5e0-cd0bde353837,
  abstract     = {{<p>Background and aim: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital vascular entity, mainly characterized by cutaneous and gastrointestinal venous malformations. BRBNS remains relatively unexplored and only limited descriptive data is available. The aim of this study was to evaluate the clinical features, diagnostic work-up and therapeutic management in current practice. Methods: A multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected. Results: In this multicenter cohort study including 44 patients, BRBNS is diagnosed at a median age of 12 years, mainly based on clinical presentation (65.9 %). The majority of patients present cutaneous (68.2 %) and digestive (79.5 %) lesions, mainly in the colon and small bowel. D-dimer and fibrinogen levels are checked in &lt;50 % of patients at diagnosis. Tie2/TEK mutation testing is rarely performed. Gastrointestinal bleeding is the most common complication (54.3 %), requiring endoscopic treatment (36.4 %) by various techniques. Conclusions: This is the largest cohort study on BRBNS. Diagnosis is mainly based on clinical presentation. D-dimer, fibrinogen and Tie2/TEK mutation testing should be performed in case of suspected BRBNS as it could help confirm the diagnosis.</p>}},
  author       = {{Becq, Aymeric and Bisdorff, Annouk and Riccioni, Maria Elena and Blaise, Sophie and Mallet, Stéphanie and Toth, Ervin and Maruani, Annabel and Despott, Edward and Labreze, Christine and Cortegoso Valdivia, Pablo and Rondonotti, Emmanuele and Carrretero Ribón, Cristina and Goffinet, Laetitia and Coffin, Elise and Rosa, Bruno and Medlij, Cynthia and Saurin, Jean Christophe and Dray, Xavier}},
  issn         = {{1590-8658}},
  keywords     = {{Blue rubber bleb nevus syndrome; Gastrointestinal bleeding; Gastrointestinal endoscopy; Sirolimus; Vascular malformations}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{Digestive and Liver Disease}},
  title        = {{Blue rubber bleb nevus syndrome : A European multicenter cohort study}},
  url          = {{http://dx.doi.org/10.1016/j.dld.2024.10.001}},
  doi          = {{10.1016/j.dld.2024.10.001}},
  year         = {{2024}},
}