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[Rendu-Osler-Weber syndrome--a complex systemic disease]
U W Geisthoff1, M Koester, J Fischinger
1Klinik und Poliklinik für HNO, Universitätskliniken des Saarlandes, Homburg/Saar. urban.geisthoff@uniklinik-saarland.de
MMW Fortschritte Der Medizin
|November 9, 2004
Summary
Hereditary Hemorrhagic Telangiectasia (HHT) is an inherited vascular disorder causing malformations in any organ. Early screening, especially for lung involvement, and interdisciplinary care are crucial for managing this complex condition.
Area of Science:
- Vascular Biology
- Genetics
- Internal Medicine
Background:
- Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber Syndrome, is an inherited autosomal dominant disorder affecting vascular connective tissue.
- It leads to vascular malformations (VMs) that can manifest in virtually any organ system.
Observation:
- Nosebleeds significantly impair quality of life in HHT patients.
- Visceral manifestations, particularly in the lungs, liver, brain, and gastrointestinal tract, pose serious health risks, often described as a 'ticking time bomb'.
Findings:
- HHT involves widespread VMs with potential for severe complications.
- Screening for visceral involvement, especially pulmonary arteriovenous malformations (PAVMs), is strongly recommended.
Implications:
- Early detection and monitoring of HHT-related VMs are essential for patient management.
- An interdisciplinary approach is vital for successfully managing the complex and potentially life-threatening manifestations of HHT.