Hereditary Hemorrhagic Telangiectasia

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

Also Known As:

Networked: 373 relevant articles (18 outcomes, 26 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Epistaxis (Nosebleed)
2.	Hemorrhage
3.	Vascular Malformations
4.	Gastric Antral Vascular Ectasia (Watermelon Stomach)
5.	Vasculitis (Vasculitides)

Experts

1.	Bernabeu, Carmelo: 11 articles (09/2013 - 08/2005)
2.	Dupuis-Girod, Sophie: 8 articles (02/2015 - 03/2010)
3.	Bailly, Sabine: 7 articles (02/2015 - 03/2007)
4.	Letarte, Michelle: 7 articles (01/2015 - 03/2005)
5.	Faughnan, Marie E: 7 articles (01/2015 - 11/2003)
6.	Oh, S Paul: 7 articles (10/2014 - 07/2007)
7.	Botella, Luisa M: 7 articles (09/2013 - 03/2006)
8.	Sadick, Haneen: 7 articles (01/2009 - 03/2002)
9.	Riedel, Frank: 7 articles (01/2009 - 03/2002)
10.	Bayrak-Toydemir, Pinar: 6 articles (09/2015 - 07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Hemorrhagic Telangiectasia:

1.	bevacizumabFDA Link 01/01/2015 - "Successful therapy with bevacizumab in a case of hereditary hemorrhagic telangiectasia." 11/01/2015 - "Bevacizumab to Treat Cholangiopathy in Hereditary Hemorrhagic Telangiectasia: Be Cautious: A Case Report." 09/01/2015 - "[Bevacizumab: a new success in hereditary hemorrhagic telangiectasia]." 03/01/2015 - "Blessing for the bleeder: bevacizumab in hereditary hemorrhagic telangiectasia." 01/01/2015 - "Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia."
2.	Tranexamic Acid (AMCA)FDA Link 09/01/2014 - "We sought to evaluate the efficacy of treating nosebleeds in hereditary hemorrhagic telangiectasia with tranexamic acid. " 02/01/2012 - "Intranasal tranexamic acid for the treatment of hereditary hemorrhagic telangiectasia: a case report and review of treatment options." 02/07/2002 - "Tranexamic acid in hereditary hemorrhagic telangiectasia." 09/20/2001 - "Efficacy of unusually high doses of tranexamic acid for the treatment of epistaxis in hereditary hemorrhagic telangiectasia." 06/19/2004 - "[Efficacy of tranexamic acid in a patient with hereditary hemorrhagic telangiectasia and massive epistaxis]."
3.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/01/2013 - "[Anti-VEGF: a new therapeutic option in hereditary hemorrhagic telangiectasia]." 08/01/2009 - "Effects of VEGF on phenotypic severity in children with hereditary hemorrhagic telangiectasia." 06/01/2005 - "Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression." 01/01/2005 - "Angiogenesis in hereditary hemorrhagic telangiectasia: VEGF165 plasma concentration in correlation to the VEGF expression and microvessel density." 01/01/2003 - "Vascular endothelial growth factor serum levels are elevated in patients with hereditary hemorrhagic telangiectasia."
4.	Thalidomide (Thalomid)FDA Link 09/01/2012 - "Long-term therapy with thalidomide in hereditary hemorrhagic telangiectasia: case report and literature review." 08/01/2002 - "Is thalidomide effective for the treatment of gastrointestinal bleeding in hereditary hemorrhagic telangiectasia?" 10/01/2013 - "Novel treatments for epistaxis in hereditary hemorrhagic telangiectasia: a systematic review of the clinical experience with thalidomide." 05/01/2013 - "Thalidomide has shown its efficacy in the treatment of epistaxis in hereditary hemorrhagic telangiectasia (HHT) patients. " 04/01/2013 - "Successful treatment of thalidomide for recurrent bleeding due to gastric angiodysplasia in hereditary hemorrhagic telangiectasia."
5.	Blue rubber bleb nevus syndromeIBA 01/01/1992 - "Complex angiodysplasias are systematized (Sturge-Weber and Bonnet-Dechaume-Blanc syndromes, Cobb's metameric angiomatosis, Klippel-Trenaunay and Parkes Weber's syndromes) or disseminated (Weber-Osler-Rendu disease and blue rubber-bleb nevus syndrome). " 06/01/1992 - "It has been effective for sporadic vascular malformations, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease), radiation proctocolitis, the blue rubber-bleb nevus syndrome, and diffuse gastric antral vascular ectasia (the watermelon stomach). " 02/01/2013 - "Genodermatoses common to both the GI tract and the skin include Hermansky-Pudlak syndrome, pseudoxanthoma elasticum, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia, and blue rubber bleb nevus syndrome. " 01/01/1987 - "The most common associations are hypertrophy of underlying soft tissue and bone, as in the Klippel-Trenaunay-Weber and Sturge-Weber syndromes, visceral vascular lesions with hemorrhage, as in hereditary hemorrhagic telangiectasia and blue rubber bleb nevus syndrome, and neurologic alterations, as in Fabry's disease, ataxia-telangiectasia, and the Sturge-Weber syndrome."
6.	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."
7.	Interleukin-1 Receptors (Interleukin 1 Receptor)IBA 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."
8.	Interleukin-6 (Interleukin 6)IBA 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."
9.	Interleukin-5 (Interleukin 5)IBA 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."
10.	Interleukin-1 (Interleukin 1)IBA 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."

Therapies and Procedures

1.	Aftercare (After-Treatment) 04/01/2014 - "Improvement in hereditary hemorrhagic telangiectasia after treatment with the phosphoinositide 3-kinase inhibitor BKM120." 09/01/2006 - "Dramatic improvement in hereditary hemorrhagic telangiectasia after treatment with the vascular endothelial growth factor (VEGF) antagonist bevacizumab."
2.	Transplants (Transplant) 12/01/2012 - "Bilateral lung transplant for hereditary hemorrhagic telangiectasia in a pediatric patient." 04/01/2002 - "We report a patient with hereditary hemorrhagic telangiectasia who underwent a single lung transplant with excellent evolution, and three years later (that is, at the time of this paper), she is still alive." 01/01/1999 - "Three patients with hereditary hemorrhagic telangiectasia and hepatic involvement received transplants. " 08/01/1964 - "THE SPLIT-THICKNESS SKIN GRAFT IN THE MANAGEMENT OF HEREDITARY HEMORRHAGIC TELANGIECTASIA INVOLVING THE NASAL MUCOSA." 12/01/2006 - "Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry."
3.	Therapeutic Embolization 06/01/2005 - "[A case of Osler-Weber-Rendu syndrome: therapeutic embolization of the pulmonary artery and bronchial artery]." 05/01/2004 - "The authors report a case of recurrence of pulmonary AVMs in a young female with hereditary hemorrhagic telangiectasia (HHT) subjected to transcatheter embolotherapy (TCET) in 1995. " 05/17/2012 - "Stent-anchored coil embolotherapy--novel treatment procedure for huge pulmonary arterio-venous malformation in hereditary hemorrhagic telangiectasia." 05/01/2010 - "To evaluate the clinical and radiological outcomes of transcatheter embolotherapy for treating sporadic pulmonary arteriovenous malformations (PAVMs) that were not associated with hereditary hemorrhagic telangiectasia. " 05/01/2010 - "Embolotherapy for pulmonary arteriovenous malformations in patients without hereditary hemorrhagic telangiectasia."
4.	Argon Plasma Coagulation 02/01/2013 - "Argon plasma coagulation is an effective treatment for hereditary hemorrhagic telangiectasia patients with severe nosebleeds." 01/01/1999 - "Argon plasma coagulation for the treatment of hereditary hemorrhagic telangiectasia." 03/01/1998 - "[Argon plasma coagulation in treatment of hereditary hemorrhagic telangiectasia of the nasal mucosa]." 09/01/2014 - "A case of hereditary hemorrhagic telangiectasia with repeated hemobilia arrested by argon plasma coagulation under direct peroral cholangioscopy." 02/01/2013 - "In contrast to the current trend according to which the treatment of hereditary hemorrhagic telangiectasia (HHT) epistaxis depends on clinical severity, argon plasma coagulation (APC) has also proven to be effective as a first-line procedure in patients with severe nosebleeds. "
5.	Off-Label Use 12/01/2009 - "The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia."