HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER-WEBER-RENDU DISEASE) - NEW INSIGHTS IN PATHOGENESIS, COMPLICATIONS, AND TREATMENT

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber -Rendu disease, is a hereditary disorder leading to easily bleeding te langiectases on skin and mucosal surfaces, and it is associated with t he presence of arteriovenous malformations (AVMs) in multiple organ sy stems. These AVMs may cause serious complications when they are locate d in the lungs, liver, or brain. The prevalence of AVMs in patients wi th HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Gen etic heterogeneity has been demonstrated, suggesting involvement of ot her transforming growth factor receptors. This might explain the varia ble clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be scree ned for their presence, and relatives of patients with HHT should be i nvestigated for presence of the disease.