Blue rubber bleb nevus syndrome: A European multicenter cohort study

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.