Natural history and control of epistaxis in a group of German patients with Rendu-Osler-Weber disease.

INTRODUCTION: Epistaxis is the most common symptom of a complex, genetically determined vasculopathy, which is known under the notion hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber-syndrome). This study was initiated to gain more knowledge about the natural history of epistaxis in a German HHT-population. PATIENTS AND METHODS: Data of 49 HHT patients were ascertained by interviewing these patients with a standardized disease specific questionnaire. Patients' files were retrospectively reviewed for data concerning age, gender, past medical history, laboratory parameters, number of hospital admissions for epistaxis, conservative and operative types of therapy, treatment results and follow-up. MAIN RESULT: Epistaxis was the first and most prominent symptom in 93% of the patients and could be triggered most frequently by stress. Half of the patients had experienced first episodes of epistaxis in childhood, but usually epistaxis did not become troublesome before the age of 35 years. The effects of hormonal changes or therapies with systemic hormones were inconclusive with regard to impact on epistaxis. Patients with septal perforations had to be admitted for inpatient epistaxis treatment more frequently than patients with an intact nasal septum. An overall reduction of frequency and intensity of epistaxis could be achieved in 89% of the patients through the daily use of nasal lubricants and a minimum of two treatment sessions with the Nd:YAG laser. However in none of the cases the treatment results were permanent. More than 50% of the patients, who had been screened for visceral arteriovenous malformations, were positive for pathologic vascular lesions. PRINCIPAL CONCLUSION: The natural history of epistaxis in German HHT patients is similar to previously described entities from other parts of the world. First clinical signs of HHT may be present at an earlier age than previously thought.

Mucocutaneous telangiectases of the head and neck in individuals with hereditary hemorrhagic telangiectasia -- analysis of distribution and symptoms.

Telangiectases are a diagnostic clue of hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease), but they are not specific to HHT. The characteristic features of telangiectases were studied in a group of 70 individuals with this disorder. The files, including photo and video documentation of these patients, were reviewed with regard to mucocutaneous vascular lesions. Telangiectases could be identified within the nasal mucosa in 90% of the HHT patients. Extranasal telangiectases were identified in descending order in the oral cavity, the facial skin, the hands, the auricles and the thorax. The vascular lesions showed considerable variation in size and shape, and on the nasal mucosa they were most commonly hemorrhagic. The earliest onset of cutaneous telangiectases was documented at the age of 6 years. Contrary to previous communications, more than 25% of patients had hemorrhages outside the nose. These hemorrhages were self-limiting in most cases. Prolonged hemorrhages requiring treatment were observed in 12% of cases. Such severe hemorrhages originated from telangiectases of the base of the tongue, the body of the tongue, the fingers and the skin of the supraclavicular fossa. We conclude that telangiectases occur at an earlier age than generally thought and are a hallmark of a serious disorder rather than a cosmetic problem.