Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
نویسندگان
چکیده
منابع مشابه
Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.
Hereditary haemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterised by epistaxis, telangiectases, and visceral manifestations. The two known disease types, HHT1 and HHT2, are caused by mutations in the endoglin (ENG) and ALK-1 genes, respectively. A higher frequency of pulmonary arteriovenous malformations (AVMs) has been reported for HHT1 while HHT2 is thought to be assoc...
متن کاملHereditary 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.
متن کامل'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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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...
متن کاملVariceal haemorrhage in hereditary haemorrhagic telangiectasia.
Hepatic in involvement in hereditary haemorrhagic telangiectasia can lead to cirrhosis and occasionally to portal hypertension and variceal haemorrhage. The ultrasonographic, arteriographic and histological findings are described in a patient with this complication. Hepatic artery embolisation proved unsuccessful in arresting repeated haemorrhage which was eventually controlled by hepatic arter...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.7.494