Blue rubber bleb nevus syndrome: A European multicenter cohort study.

IF 4 3区医学 Q1 GASTROENTEROLOGY & HEPATOLOGY

Digestive and Liver Disease Pub Date : 2024-10-18 DOI:10.1016/j.dld.2024.10.001

Aymeric Becq, Annouk Bisdorff, Maria Elena Riccioni, Sophie Blaise, Stéphanie Mallet, Ervin Toth, Annabel Maruani, Edward Despott, Christine Labreze, Pablo Cortegoso Valdivia, Emmanuele Rondonotti, Cristina Carrretero Ribón, Laetitia Goffinet, Elise Coffin, Bruno Rosa, Cynthia Medlij, Jean-Christophe Saurin, Xavier Dray

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引用次数: 0

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 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.

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蓝色橡胶斑痣综合征：欧洲多中心队列研究。

背景和目的：蓝橡皮痣综合征（BRBNS）是一种罕见的先天性血管性疾病，主要表现为皮肤和胃肠道静脉畸形。目前对蓝橡皮痣综合征的研究相对较少，只有有限的描述性数据。本研究的目的是评估目前临床实践中的临床特征、诊断工作和治疗方法：方法：对 BRBNS 患者进行了一项欧洲多中心队列研究。研究收集了患者的人口统计学特征、临床表现和管理数据：在这项多中心队列研究中，共有 44 名患者，BRBNS 的诊断年龄中位数为 12 岁，主要依据是临床表现（65.9%）。大多数患者出现皮肤（68.2%）和消化道（79.5%）病变，主要位于结肠和小肠：这是关于 BRBNS 的最大规模队列研究。对疑似 BRBNS 患者应进行 d-二聚体、纤维蛋白原和 Tie2/TEK 基因突变检测，因为这有助于确诊。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Digestive and Liver Disease 医学-胃肠肝病学

CiteScore

6.10

自引率

2.20%

发文量

632

审稿时长

19 days

期刊介绍： Digestive and Liver Disease is an international journal of Gastroenterology and Hepatology. It is the official journal of Italian Association for the Study of the Liver (AISF); Italian Association for the Study of the Pancreas (AISP); Italian Association for Digestive Endoscopy (SIED); Italian Association for Hospital Gastroenterologists and Digestive Endoscopists (AIGO); Italian Society of Gastroenterology (SIGE); Italian Society of Pediatric Gastroenterology and Hepatology (SIGENP) and Italian Group for the Study of Inflammatory Bowel Disease (IG-IBD). Digestive and Liver Disease publishes papers on basic and clinical research in the field of gastroenterology and hepatology. Contributions consist of: Original Papers Correspondence to the Editor Editorials, Reviews and Special Articles Progress Reports Image of the Month Congress Proceedings Symposia and Mini-symposia.