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Hereditary Hemorrhagic Telangiectasia

Pediatric Neurology Briefs, 1998
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease, was the subject of an NIH workshop, organized by the National Heart, Lung, and Blood Institute, on July 10-11, 1997.
J Gordon Millichap
doaj   +6 more sources

Epistaxis due to hereditary hemorrhagic telangiectasia: A case report and literature review [PDF]

Journal of International Medical Research
Characterized by abnormalities of the blood vessel wall, hereditary hemorrhagic telangiectasia is an autosomal dominant disorder. Recurrent or spontaneous epistaxis is the most prevalent symptom of hereditary hemorrhagic telangiectasia, whose severity ...
Xiangnan Du, Yuting Lu, Xiaoxiao Luo, Xiaolin Cao   +3 more
doaj   +3 more sources

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

Vision Pan-America, 2015
We describe a patient with clinical history of intermittent haemolacria associated to hereditary hemorrhagic telangiectasia, first seen and diagnosed by the ophthalmologist.
Messody Zagury, Marcos B.V. Albers, Sergio Felberg, Adriana V Portes, M. Cristina Nishiwaki-Dantas, Paulo E.C. Dantas   +5 more
doaj   +6 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

Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

Case Reports in Medicine, 2016
A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia.
Susumu Takamatsu, Kota Sato, Shunsuke Kato, Hiroto Nagano, Shunro Ohtsukasa, Yasuyuki Kawachi   +5 more
doaj   +2 more sources

Safely Treating a Pulmonary Embolism in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal dominant bleeding disorder. The incidence of venous thromboembolisms among HHT patients is significantly greater than the general population. However, providing therapeutic anticoagulation in patients with an increased propensity for bleeding creates a clinical dilemma.
Carfagnini C, Kandula M.
europepmc   +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

The Lung in Hereditary Hemorrhagic Telangiectasia [PDF]

Respiration, 2017
Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain.
Sophie Dupuis-Girod, Vincent Cottin, C.L. Shovlin   +2 more
openaire   +5 more sources

Hereditary Hemorrhagic Telangiectasia

Eurasian Journal of Medicine, 2019
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Mehmet Gündoğdu, Aydoğan Albayrak
doaj   +5 more sources