Epidemiology of Hereditary Haemorrhagic Telangiectasia (HHT) in Spain

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منابع مشابه

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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'Pseudocirrhosis' in hereditary haemorrhagic telangiectasia.

Telangiectasia-associated hepatic fibrosis (TAHF) in a 68-year-old woman with hereditary haemorrhagic telangiectasia (HHT) is described. The patient died of oat-cell carcinoma of the lung. In addition to the structural alterations which have been described previously in HHT, the liver exhibited focal midlobular hepatocytic necrosis and tumour metastases. The possibility that treatment of HHT wa...

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Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism.

Hereditary haemorrhagic telangiectasia (HHT) causes chronic nasal and gastrointestinal haemorrhage. Prothrombotic agents are commonly used for severe haemorrhage. Thrombotic risks have not been defined. In order to identify prothrombotic variables in HHT patients, and assess their potential functional significance, a pilot ELISA-based study comparing plasma proteins in healthy individuals with ...

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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: Hereditary Genetics

سال: 2016

ISSN: 2161-1041

DOI: 10.4172/2161-1041.1000173