Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia

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Life expectancy in patients with hereditary haemorrhagic telangiectasia.

BACKGROUND There are few data on life expectancy in patients with hereditary haemorrhagic telangiectasia (HHT), a disorder with life-threatening complications. METHODS Seventy HHT patients provided data on age and age at death of their HHT-affected parent, which was compared with that of the parent's non-affected partner. RESULTS At the time of the study, 40 HHT parents (57.1%) vs. 36 (51.4...

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Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

BACKGROUND Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death. METHOD We investigated life-expectancies of parents of HHT patients compared with their non-HHT partners using self- or telephone-administered questionnaires sent to their child...

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Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT)

BACKGROUND There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom. PURPOSE To assess the quality of life in a population of Spanish patients with HHT and compare it with th...

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Hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.

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Hereditary haemorrhagic telangiectasia: neuropathological observations.

While the literature pertaining to hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu disease) has been quite extensive, very few reports have dealt with the neurological manifestations of the disease. Occasional anatomical studies have appeared, but reports of neuropathological findings have been rare. The purpose of the present paper is to provide neuropathological observations in a pa...

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ژورنال

عنوان ژورنال: Orphanet Journal of Rare Diseases

سال: 2016

ISSN: 1750-1172

DOI: 10.1186/s13023-016-0427-x