Osler-Weber-Rendu, an Early Presentation

Background: Osler-Weber-Rendu syndrome is a rare autosomal dominant disease characterized by telangiectasias and arteriovenous malformations, which may affect multiple organs. Symptoms develop over time and are more likely to appear in adulthood.

Case Presentation: Ten-year-old girl with a medical history of atopic dermatitis, Henoch-Schonlein purpura at 3 years of age and positive Phadiatop test for inhalant allergens. Her mother, uncle and maternal grandmother had Osler-Weber-Rendu syndrome. At the age of 8 presented frequent spontaneous epistaxis, several times a week, even while sleeping, without seasonal predominance. There were no visible telangiectasias and no anemia was detected. Right anterior rhinoscopy showed vascular ectasia. It was decided in Genetics appointment to perform molecular study, which confirmed the presence of the family mutation of the gene ACVRL1 C. 1232G > A p.arg411Gln, at 9 years old. The results of abdominal and vesical ultrasound, electrocardiogram and echocardiography were normal. She had menarche at the age of 10 years. At 10 years old she was evaluated because of easy fatigability, mainly at afternoon. Bilateral vascular ectasias throughout septal mucosa were detected at anterior rhinoscopy. Blood tests indicated an iron deficiency anemia (Hb 10.1 g/dl, with presence of target cells in peripheral blood smear and ferritin 3 ng/ml). She started iron oral supplementation 6 mg/Kg/day. One month later control hemogram indicated an hemoglobin rise to 13.3 g/dl and ferritin 16 ng/mL. Actually she is waiting for a contrast echocardiogram, brain angio-magnetic resonance imaging and new abdominal ultrasonography for arteriovenous malformations screening.

Discussion: Epistaxis is the most common symptom of the disease. If it appears in pediatric age, it is typically after 10 years old, and rarely requires invasive interventions to control bleeding. This child presents an exuberant phenotype, and therapeutic experience is scarce in the approach of the pathology at such an early age.