Hereditary Hemorrhagic Telangiectasia: Patient with Pulmonary Hypertension and Hepatic Encephalopathy

نویسنده

  • Chit Wai Wong
چکیده

Copyright: © 2013 Wong CW. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Abstract Hereditary hemorrhagic telangiectasia (HHT) is usually under recognized. It is a rare genetic disorder characterized by telangiectasia and epistaxis. Visceral involvement by HHT is common but frequently asymptomatic and remains undiagnosed. However, once the visceral manifestation of the disease occurs, it can result in significant morbidity and mortality. This case report demonstrates the rare complications of pulmonary hypertension and hepatic encephalopathy in HHT.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Pulmonary hypertension and hepatic encephalopathy: lethal complications of Rendu-Osler-Weber disease.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia with systemic manifestations due to visceral telangiectasia and arterio-venous malformations (AVMs). We describe unusual complications of HHT in a 68-year-old male who developed high-output cardiac failure with pulmonary hypertension in combination with hepatic...

متن کامل

eNS Manifestations of Hereditary Hemorrhagic Telangiectasia 569

Hereditary hemorrhagic telangiectasia (HHT) is a familial angiodysplastic disorder. Dermal, mucosal, and visceral vascular lesions of this disorder are well known. However, central nervous system (CNS) manifestations, occurring in as many as one-third of patients, have not been well appreciated until recently. The etiology of neurologic symptomatology includes hypoxemia or ischemia secondary to...

متن کامل

Hereditary Hemorrhagic Telangiectasia With Liver Vascular Malformation Presenting With High-Output Heart Failure

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disease manifested by formation of telangiectasias and visceral vascular malformations of organ systems, including the skin, lungs, gastrointestinal tract, brain, and liver. Hepatic involvement may lead to portal hypertension, high-output cardiac failure, and biliary strictures.1 Diagnosis requires patients to have 3 o...

متن کامل

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

BACKGROUND Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors. Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the ...

متن کامل

Variceal 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...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2013