Thalidomide for Hereditary Hemorrhagic Telangiectasia With Pulmonary Arterial Hypertension

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Thalidomide for Hereditary Hemorrhagic Telangiectasia With Pulmonary Arterial Hypertension.

initiate thalidomide, which increases platelet-derived growth factor-B expression and downregulates vascular endothelial growth factor in endothelial cells, stimulating mural cell coverage and leading to normal vascular maturation.1,2 After the initiation of thalidomide (50 mg daily), the anemia was dramatically improved without blood transfusion (Figure H) and telangiectatic lesions in the ton...

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Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the triad of epistaxis, telangiectasia and vascular malformations. Pulmonary vascular complications associated with this disease include pulmonary arteriovenous malformations (AVM) and, less frequently, pulmonary hypertension (PH). We report the case of a patient who presented multiple pulmonary AVM a...

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Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.

BACKGROUND AND OBJECTIVE Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in ...

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Hereditary Hemorrhagic Telangiectasia: Patient with Pulmonary Hypertension and Hepatic Encephalopathy

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 telan...

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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Germline mutations in genes encoding members of the transforming growth factor-β (TGF-β)/bone morphogenetic protein (BMP) superfamily are causal for two hereditary vascular disorders, hereditary hemorrhagic telangiectasia (HHT) and heritable pulmonary arterial hypertension (PAH). When the two diseases coexist, activin A receptor type II-like kinase-1 (ACVRL1) gene mutations are usually identifi...

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ژورنال

عنوان ژورنال: Circulation Journal

سال: 2018

ISSN: 1346-9843,1347-4820

DOI: 10.1253/circj.cj-17-0299