1. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome): a review of the disorder and its treatment
- Author
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Botella, L. -M, Carmelo Bernabeu, Zarrabeitia, R., Garrido-Martin, E., Ojeda-Fernandez, C., and Albinana, V.
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otorhinolaryngologic diseases - Abstract
1 p., Hereditary Haemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber syndrome is a vascular autosomic dominant disease associated to epistaxis, telangiectasia, gastrointestinal haemorrhages and arteriovenous malformations in lung, liver and brain. Prevalence is 1/5,000-1/8,000. In most cases, 90%, the disease is caused by mutations in either, Endoglin or ACVRL1/ALK1, giving rise to HHT type 1 and 2, respectively. Both genes are receptors of the TGF- signalling pathway. Diagnosis is based in the clinical criteria of Curaçao (Shovlin et al., 2000) but molecular diagnosis supports the symptoms, and allows early diagnosis of HHT. Screening for internal arteriovenous malformations in lung and brain is essential to avoid serious complications: stroke, ischemia, massive haemorrhage, even death. Embolization is the cure for lung and brain malformations. However, epistaxis, remains the most prevalent symptom, increasing with age, and affecting severely the HHT patients’ quality of life.