Morphology and distribution of nasal telangiectasia in HHT-patients with epistaxis.

BACKGROUND: Epistaxis in hereditary hemorrhagic telangiectasia (HHT; Rendu-Osler-Weber syndrome) is a frequent symptom that may be caused by a multitude of different genetic and epigenetic phenomena. This investigation analyzes the distribution of nasal telangiectasia in 21 patients with HHT. METHODS: The patients were examined for endonasal telangiectasia by videoendoscopy with rigid endoscopes; in addition, the anterior portion of the nose was examined under the operating microscope. The endonasal findings were recorded on videotape and then evaluated in the media laboratory. RESULTS: Morphology of the nasal telangiectasia showed wide variations: the vessels were shaped like spots, loops, or spiders or they clustered and resembled raspberries. Gender did not have an influence on the phenotype of telangiectasia, whereas advancing age correlated with a higher density of telangiectasia. Patients with an intact nasal septum exhibited the bulk of telangiectasia in the anterior nasal cavity but also on the middle turbinates, the floor of the nose, and within the valve area. Patients with septal perforations displayed the majority of telangiectasia around the edge of the perforations, on the floor of the nose, and on the turbinates. Scattered telangiectasia also could be found in the profound parts of the nasal cavity and in the nasopharynx, especially in patients with septal perforations. CONCLUSION: The shapes of endonasal telangiectasia in HHT patients are very heterogeneous; predilection sites could first of all be found within the anterior portion of the nose. Morphology and distribution of endonasal telangiectasia change as a result of therapeutic interventions, development of septal perforations, and with advancing age. Therefore, repeat endoscopies are recommended to assess the actual stage of the disease before epistaxis therapy.

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.

The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study.

Occult visceral arterio-venous malformations (AVMs) may be a constant threat to patients suffering from hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome (M. ROW). HHT patients predominantly become symptomatic through chronic, recurrent epistaxis, a symptom that can alert physicians at an early stage of the disease. The purpose of this study was to investigate whether occult, visceral arterio-venous malformations could be detected by screening imaging studies in patients suffering from HHT. In a comprehensive diagnostic study, Rendu-Osler-Weber patients were examined for potential visceral arterio-venous malformations by physical examination and non-invasive imaging techniques. The Department of Otolaryngology of the Philipps University of Marburg is a major referral center and coordinated the screening procedures. Thirty-five individuals with the presumed diagnosis of HHT gave informed consent to the screening investigations. Eighteen of 35 individuals were found to suffer from visceral vascular malformations; most of the AVMs were diagnosed in the lung, but also the liver, spleen, brain and eyes were affected. Six patients could be treated preventively by arterial embolization for AVMs of the lung, liver and brain. Comprehensive screening for occult AVMs in HHT patients seems to be justified to avert potential complications in this group of patients.