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Rendu-Osler-Weber disease: experience with 56 patients
Carlo Sabbà1, Giovanna Pasculli, Anna Cirulli
1Centro Interdipartimentale Universitario per lo Studio e la Ricerca sul Morbo di Rendu-Osler-Weber, Bari. c.sabba@dimimp.uniba.it
Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna
|October 31, 2002
Summary
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a vascular disorder. This study evaluated 100 patients in Italy, confirming HHT in 56 and identifying various vascular malformations and successful treatments.
Area of Science:
- Vascular Medicine
- Genetics
- Internal Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant systemic vascular dysplasia.
- Prevalence estimates for HHT range from 1/3500 to 1/5000, with specific data for Italy previously unavailable.
- Diagnostic criteria for HHT include family history, epistaxis, telangiectases, and visceral arteriovenous malformations.
Purpose of the Study:
- To evaluate patients potentially affected by HHT in Italy.
- To diagnose and characterize vascular malformations in HHT patients.
- To assess the effectiveness of certain treatments for HHT complications.
Main Methods:
- Evaluation of 100 patients (September 2000 - March 2002) at the HHT Center of the University of Bari.
- Diagnostic confirmation based on established HHT criteria.
- Utilized Magnetic Resonance Imaging (MRI), contrast echocardiography, multislice computed tomography (CT), echo color Doppler ultrasonography, and endoscopy for malformation detection.
Main Results:
- HHT diagnosis was confirmed in 56 patients and suspected in 10.
- Cerebral arteriovenous malformations detected in 8.5% of patients via MRI.
- Pulmonary arteriovenous malformations found in 14.6% (confirmed by CT), hepatic vascular malformations in 48.2% (ultrasound) to 63.8% (CT), and gastric telangiectases in 64% of endoscoped patients.
- Successful embolotherapy for pulmonary arteriovenous malformations in 3/6 patients.
- Tranexamic acid reduced epistaxis frequency.
Conclusions:
- The study provides initial data on HHT in Italy, confirming its presence and characterizing its manifestations.
- Various diagnostic imaging modalities are effective in detecting diverse vascular malformations associated with HHT.
- Embolotherapy and tranexamic acid show promise in managing HHT complications, highlighting the need for specialized HHT centers.