Rendú Osler Weber Syndrome; case report

Area of Science:

• Genetics and Vascular Medicine

Background:

• Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder.
• It is characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in various organs.

Observation:

• A 62-year-old female patient presented with recurrent epistaxis and vaginal bleeding.
• The patient was diagnosed with complex HHT.

Findings:

• Management with multiple embolization procedures was performed.
• The treatment led to significant improvement in symptoms and enhanced patient survival.

Implications:

• Timely diagnosis and individualized treatment are crucial for improving quality of life and survival in HHT patients.
• Embolization is an effective therapeutic option for managing complex HHT cases.