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[Pulmonary involvement in Osler-Weber-Rendu syndrome]
E Bron-Harlev1, B Zeevi, B Z Garty
1Dept. of Medicine B, Schneider Children's Medical Center, Petah Tikva.
Harefuah
|July 7, 2000
Summary
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), a genetic disorder causing vascular malformations, can present with pulmonary issues mimicking asthma. Therapeutic embolization effectively treated two such patients, improving their symptoms.
Area of Science:
- Genetics
- Vascular Biology
- Pulmonary Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder.
- It is characterized by vascular malformations and is linked to mutations in genes on chromosomes 9 and 12.
- Pulmonary involvement in HHT can lead to significant respiratory symptoms.
Observation:
- Two patients with HHT and pulmonary involvement presented with dyspnea and cyanosis.
- Their symptoms were initially misdiagnosed as long-standing asthma.
- This highlights a potential diagnostic challenge in patients with HHT.
Findings:
- The patients underwent therapeutic catheterization and embolization.
- Both patients experienced good clinical outcomes following the procedure.
- This demonstrates the efficacy of interventional radiology in managing pulmonary HHT.
Implications:
- Early recognition of pulmonary HHT is crucial for appropriate management.
- Catheter-directed embolization offers a viable treatment option for pulmonary vascular malformations in HHT.
- This case series underscores the importance of considering HHT in patients with unexplained respiratory symptoms and vascular abnormalities.