Blue rubber bleb nevus syndrome: A European multicenter cohort study

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; iCARE group and FAVA-Multi

doi:10.1016/j.dld.2024.10.001

Blue rubber bleb nevus syndrome: A European multicenter cohort study

Dig Liver Dis. 2024 Oct 18:S1590-8658(24)01042-9. doi: 10.1016/j.dld.2024.10.001. Online ahead of print.

Authors

Aymeric Becq¹, Annouk Bisdorff², Maria Elena Riccioni³, Sophie Blaise⁴, Stéphanie Mallet⁵, Ervin Toth⁶, Annabel Maruani⁷, Edward Despott⁸, Christine Labreze⁹, Pablo Cortegoso Valdivia¹⁰, Emmanuele Rondonotti¹¹, Cristina Carrretero Ribón¹², Laetitia Goffinet¹³, Elise Coffin¹⁴, Bruno Rosa¹⁵, Cynthia Medlij¹⁶, Jean-Christophe Saurin¹⁷, Xavier Dray¹⁸; iCARE group and FAVA-Multi

Affiliations

¹ Gastroenterology Department, APHP, Henri Mondor Hospital, Paris Est Créteil University, 1 Rue Gustave Eiffel, Créteil 94000, France. Electronic address: aymeric.becq@aphp.fr.
² Neuroradiology Department, Lariboisière Hospital, Center of Vascular Anomalies Clinic VASCERN VASCA European Reference Centre, Paris, France.
³ Facoltà di Medicina e Chirurgia, Università Cattolica del Sacro Cuore, Rome, Italy; Dipartimento di Scienze Medico-Chirurgiche e Gastroenterologiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁴ Vascular Medicine Department, HP2 Laboratory, University Grenoble Alpes, CHU Grenoble Alpes, Grenoble 38000, France.
⁵ Department of Dermatology, University Hospital Center of Marseille, Marseille, France.
⁶ Department of Gastroenterology, Malmö and Department of Clinical Sciences Malmö, Skåne University Hospital, Lund University, Sweden.
⁷ University of Tours, University of Nantes, Institut National de la Santé et de la Recherche Médicale, SPHERE U1246, Tours, France; Department of Dermatology, Center of Reference for rare Vascular Anomalies MAGEC, University Hospital Center of Tours, Tours, France.
⁸ Royal Free Unit for Endoscopy, The Royal Free Hospital and UCL Institute for Liver and Digestive Health, London, UK.
⁹ Department of Dermatology, Pellegrin Hospital, CHU de Bordeaux, Bordeaux, France.
¹⁰ Gastroenterology and Endoscopy Unit, University Hospital of Parma, University of Parma, Parma, Italy.
¹¹ Gastroenterology Unit, Valduce Hospital, Como, Italy.
¹² Department of Gastroenterology, University of Navarre Clinic, Healthcare Research Institute of Navarre, Pamplona, Spain.
¹³ Pediatric Surgery Department, University Hospital of Nancy, Lorraine University, France.
¹⁴ Endoscopy Department, Foch Hospital, Suresnes, France.
¹⁵ Department of Gastroenterology, Hospital da Senhora da Oliveira, Guimarães, Portugal.
¹⁶ Gastroenterology Department, Saint Joseph Hospital, Paris, France.
¹⁷ Department of Hepatology and Gastroenterology, Edouard Herriot Hospital, Lyon, France.
¹⁸ Centre for Digestive Endoscopy, Sorbonne University, Saint Antoine Hospital, APHP, Paris, France.

PMID: 39426903
DOI: 10.1016/j.dld.2024.10.001

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.

Keywords: Blue rubber bleb nevus syndrome; Gastrointestinal bleeding; Gastrointestinal endoscopy; Sirolimus; Vascular malformations.