Lamees Khalil*, Layth Al-Karaja, Adham Itbaisha, Doaa Tarabieh, Nouraldin Hashlamon, Tumodir Abdallah, Rami J. Sweity
Al-Quds University, Palestine.
Citation: Khalil L, Al-Karaja L, Itbaisha A, Tarabieh D, Hashlamon N et al (2023) Case Report: Diagnosis of Hereditary Hemorrhagic Telangiectasia (Osler Weber RendueSyndrome) in a 53-Year- Old Female Presented with Hypoxia. SciTech Biomed-Cancer 2023.
Received: May 22, 2023 Accepted: May 24, 2023 Published: May 24, 2023
Background: Rendue Osler Weber Syndrome is a vascular disease inherited as an autosomal dominant pattern. The most frequent complaints are epistaxis, gastrointestinal bleeding, iron deficiency anemia, and recognizable mucocutaneous telangiectasia. Also, may have Visceral arteriovenous malformations (AVMs) affect the Pulmonary, hepatic, and/or cerebral circulations; symptoms begin in childhood with an average age of 12 years. diagnosis is based on clinical presentation and confirmed by genetic testing.
Case presentation: A 53-year-old female known case of polycythemia comes complaining of shortness of breath, severe hypoxemia (<70%), cyanosis in her lips, and epistaxis. On examination, she had telangiectasia in her face, lips, tongue, and neck. Chest CT showed pulmonary arteriovenous malformations at the lower lobes, and abdomen CT showed dilated and tortuous portal system.
Conclusion: Clinicians need to have a low threshold of suspicion to diagnose ROW. after diagnosis, ROW needs a comprehensive and multidisciplinary team for proper management.
