In 1998, one of us (MJM) published an article discussing several patients with Osler-Weber-Rendu Syndrome or hereditary haemorrhagic telangiectasia with secondary cerebral complications. These were intracerebral haemorrhage, ischaemic infarct and intracerebral abscess. We outlined the background of the syndrome as well as its genotype and predicted an increasingly important role for genetic testing. Our aim in this paper is to examine the progress of one of the patients as well as recommending follow-up guidelines for patients with pulmonary arteriovenous fistulae that have been treated.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jocn.2008.08.019 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lung transplantation for diffuse pulmonary arteriovenous malformations associated with juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome: a case report.
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.
Angiogenesis
December 2024
Service de Génétique et centre de reference de la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.
Epistaxis greatly affects patients with hereditary hemorrhagic telangiectasia (HHT). Although few systemic treatment exist, nintedanib, is a good candidate thanks to its anti-angiogenic activity. Our main objective was to evaluate the efficacy of oral nintedanib on epistaxis duration in HHT patients with moderate to severe epistaxis.
View Article and Find Full Text PDFMinimal encephalopathy in hereditary hemorrhagic telangiectasia patients with portosystemic vascular malformations.
Orphanet J Rare Dis
December 2024
HHT Unit. Hospital Universitari Bellvitge, C/Feixa Llarga S/N. L'Hospitalet de Llobregat, 08907, Barcelona, Spain.
Background: Hereditary hemorrhagic telangiectasia (HHT) is characterized by telangiectasia and larger vascular malformations. Liver malformations are the most frequent visceral involvement including the presence of portosystemic malformations (PSM) that can cause hepatic encephalopathy. Minimal hepatic encephalopathy (mHE) is characterized by alterations of brain function in neuropsychological or neurophysiological tests and decreases quality of life.
View Article and Find Full Text PDFHereditary Hemorrhagic Telangiectasia: On the Brink of a New Treatment Era?
Semin Thromb Hemost
December 2024
Gastroenterology Department, HHT European Reference Center, ASST Ospedale Maggiore Crema, Crema, Italy.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder with highly variable penetrance, affecting up to 1 in 5,000 individuals. It is characterized by the presence of abnormal blood vessels that can lead to excessive bleeding-most frequently recurrent nosebleeds (epistaxis), skin and mucosal telangiectasias (small, dilated blood vessels), as well as arteriovenous malformations (AVMs) that can form in various organs, particularly the lungs, liver, and brain. HHT is caused by loss-of-function mutations in the BMP9-10/ENG/ALK1/SMAD4 signaling pathway, an important mediator of vascular quiescence.
View Article and Find Full Text PDFGenetic and Molecular Drivers of Scleroderma Pathogenesis.
Clin Dermatol
December 2024
Departments of Dermatology and Immunology, Yale University School of Medicine, New Haven, CT. Electronic address:
Scleroderma is a heterogeneous disease with various clinical findings involving immune dysregulation, vasculopathy, and fibrosis. Biologic and genetic studies over recent decades have elucidated molecular mechanisms of scleroderma pathogenesis. Genetic association studies have identified interferon and other immune regulatory genes as strongly linked to scleroderma risk, highlighting the immune system as a fundamental determinant of disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!