Spontane Carotis-cavernosus-Fistel bei Morbus Osler-Rendu

We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle-aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.

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Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Plauchu

et al. 1989

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Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Román

Fisher

Perl

et al. 1978

Annals of Neurology

228

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Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.

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Etiology, Prevalence and Natural History of Dural Cavernous Sinus Fistulas (DCSFs)

Benndorf

2010

Medical Radiology

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Spontane Carotis-cavernosus-Fistel bei Morbus Osler-Rendu

Cited by 6 publications

References 10 publications

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Neurological manifestations of hereditary hemorrhagic telangiectasia (rendu‐osler‐weber disease): Report of 2 cases and review of the literature

Etiology, Prevalence and Natural History of Dural Cavernous Sinus Fistulas (DCSFs)

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