Blue rubber bleb nevus syndrome: A European multicenter cohort study.
Blue rubber bleb nevus syndrome
Gastrointestinal bleeding
Gastrointestinal endoscopy
Sirolimus
Vascular malformations
Journal
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
ISSN: 1878-3562
Titre abrégé: Dig Liver Dis
Pays: Netherlands
ID NLM: 100958385
Informations de publication
Date de publication:
18 Oct 2024
18 Oct 2024
Historique:
received:
28
06
2024
revised:
02
09
2024
accepted:
01
10
2024
medline:
20
10
2024
pubmed:
20
10
2024
entrez:
19
10
2024
Statut:
aheadofprint
Résumé
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. A multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected. 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. 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.
Sections du résumé
BACKGROUND AND AIM
OBJECTIVE
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
METHODS
A multicenter, European, cohort study was performed to investigate the BRBNS population. Patient demographics, clinical presentation and management data were collected.
RESULTS
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
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.
Identifiants
pubmed: 39426903
pii: S1590-8658(24)01042-9
doi: 10.1016/j.dld.2024.10.001
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.