Case Report: Diagnosis of Hereditary Hemorrhagic Telangiectasia (Osler Weber Rendue Syndrome) in a 53-year-old Female Presented with Hypoxia

Lamees Khalil^1, , Layth Al-Karaja¹, Adham Itbaisha¹, Doaa Tarabieh¹, Nouraldin Hashlamon¹, Tumodir Abdallah¹ and Rami J. Sweity¹

¹Al-Quds University, College of Medicine, Palestine

Cite this paper:
Lamees Khalil, Layth Al-Karaja, Adham Itbaisha, Doaa Tarabieh, Nouraldin Hashlamon, Tumodir Abdallah and Rami J. Sweity. Case Report: Diagnosis of Hereditary Hemorrhagic Telangiectasia (Osler Weber Rendue Syndrome) in a 53-year-old Female Presented with Hypoxia. American Journal of Medical Case Reports. 2023; 11(4):71-73. doi: 10.12691/ajmcr-11-4-2

Abstract

Background: Rendúe 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.

Keywords:
hereditary hemorrhagic telangiectasia Osler Weber Rendue Syndrome AV malformations

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