Results 1 to 10 of about 177,116 (201)

A missed case of hereditary hemorrhagic telangiectasia: A case report

SAGE Open Medical Case Reports, 2022
Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disorder characterized by abnormal blood vessel formation. When an abnormal vascular architecture affects the lungs and central nervous system, serious complications can occur.
Jia Zhang, Gaoyun Pan, Yingying Zou, Xiaoshu Chen, Jingye Pan, Yi Wang, Shichao Quan, He Zou   +7 more
doaj   +2 more sources

Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Hereditary hemorrhagic telangiectasia and inherited thrombophilia are genetic disorders with quite opposite clinical manifestation. The main characteristic for hereditary hemorrhagic telangiectasia is recurrent bleeding, while the ...
Roganović Branka, Obradović Slobodan, Micić Aleksandar, Petrović Stanko   +3 more
doaj   +2 more sources

Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

Balkan Medical Journal, 2020
Aims:Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes.
Mehmet Baysal, Selma Demir, Elif G. Ümit, Hakan Gürkan, Volkan Baş, Sedanur Karaman Gülsaran, Ufuk Demirci, Hakkı Onur Kırkızlar, Ahmet Muzaffer Demir   +8 more
doaj   +2 more sources

Beyond epistaxis: cascade screening and presymptomatic treatment of hereditary hemorrhagic telangiectasia [PDF]

BMC Pediatrics
Background Hereditary Hemorrhagic Telangiectasia is an autosomal dominant vascular disorder with clinical features of recurrent epistaxis, mucocutaneous telangiectasias, or visceral arteriovenous malformations, yet its early signs may be overlooked in ...
Chen Xiang Ang, Hui-Lin Chin, Shu Zhen Teresa Tan   +2 more
doaj   +2 more sources

P- 18 TREATMENT WITH BEVACIZUMAB IN HIGH OUTPUT CARDIAC FAILURE DUE TO SEVERE HEPATIC COMPROMISE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA PATIENTS: OBSERVATIONAL COHORT STUDY

Annals of Hepatology, 2023
Introduction and Objectives: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular dysplasia affecting 1/5000 individuals. Epistaxis, mucocutaneous telangiectasias and vascular malformations affecting internal organs (brain, lungs,
Carolina Vazquez, Juan Bandi, Marcelo Serra   +2 more
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report

Journal of Medical Case Reports, 2022
Introduction Hereditary hemorrhagic telangiectasia is an autosomal dominant condition with an estimated prevalence of 1 in 5000. It is characterized by the presence of abnormalities of vascular structures, and may affect many organ systems, including the
L. J. Walsh, C. Collins, H. Ibrahim, D. M. Kerins, A. P. Brady, T. M. O Connor   +5 more
doaj   +1 more source

Hereditary hemorrhagic telangiectasia with liver cirrhosis: a case report

BMC Gastroenterology, 2021
Background Hereditary hemorrhagic telangiectasia is an autosomal dominant hereditary hemorrhagic disease. Its main feature is an abnormal structure of the blood vessel wall.
Linxia Xu, Feng Xu, Qizhi Wang, Xiquan Ke   +3 more
doaj   +1 more source

Liver cirrhosis in a patient with hepatic hereditary hemorrhagic telangiectasia and Budd–Chiari syndrome: a case report

BMC Gastroenterology, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) often involves the liver, and belongs to abnormal blood vessel disease. The etiology of Budd–Chiari syndrome (BCS) is not clear, but congenital vascular dysplasia is considered to be one of the ...
Bai-Guo Xu, Jing Liang, Ke-Feng Jia, Tao Han   +3 more
doaj   +1 more source

Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia

Pulmonary Circulation, 2020
Hereditary hemorrhagic telangiectasia is a rare disease with autosomal dominant inheritance. More than 80% hereditary hemorrhagic telangiectasia patients carry heterozygous mutations of Endoglin or Activin receptor-like kinase-1 genes.
Fang Zhou, Xiuli Zhao, Xiu Liu, Yanyan Liu, Feng Ma, Bao Liu, Jun Yang   +6 more
doaj   +1 more source