[Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). Report of 30 cases].

OBJECTIVE

To study the prevalence and modes of presentation of hereditary hemorrhagic telangiectasia (HHT) in Cantabria, Spain.

MATERIALS AND METHODS

A retrospective study was made of all patients diagnosed as HHT in Cantabria in the last 20 years (1976-1995). The presence/absence of family history, recurrent nosebleed, mucosal and cutaneous telangiectasia, visceral involvement, and course of the disease were evaluated.

RESULTS

Thirty patients ranging in age from 17 to 75 years were diagnosed as HHT in the study period. Most of them had a family history of recurrent nasal bleeding. The main symptom was nosebleed. Pulmonary arteriovenous fistulas were found in 7 patients and gastrointestinal manifestations in 10 patients. Five patients died of complications directly attributable to the disease.

CONCLUSIONS

The minimum prevalence of HHT in Cantabria is 1:12,200, Patients with recurrent nosebleed, particularly if a family history of epistaxis is present, should undergo exploration of the oral cavity for telangiectasia. Early diagnosis of HHT can help to avoid unnecessary diagnostic procedures and contribute to the early detection of associated visceral malformations. The treatment of HHT should be individualized.