Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease that affects the blood vessels, and is characterized by direct connections between arteries and veins with no intervening capillaries. These abnormal vessels may appear in the skin as tiny red dilated blood vessels in the mouth, lip...
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| Format: | Online |
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| Langue: | anglais |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Accès en ligne: | ONIX_20220111_9783036505909_8 |
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| description | Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease that affects the blood vessels, and is characterized by direct connections between arteries and veins with no intervening capillaries. These abnormal vessels may appear in the skin as tiny red dilated blood vessels in the mouth, lips, fingers and toes. The presence of these vascular lesions in the mucosa can lead to spontaneous and recurrent nose bleeding, typically beginning in mid-childhood, and this is the most common clinical manifestation of HHT, occurring in over 90% of patients. Gastrointestinal bleeding, derived from mucocutaneous vascular lesions, affects approximately 25% of patients, almost always presenting after the age of 50. Chronic nasal and gastrointestinal bleeding can cause iron-deficiency anemia, and current therapeutic strategies are trying to minimize iron and blood transfusions. HHT patients also present large vascular lesions, known as arteriovenous malformations, that occur in internal organs like lungs, liver, and brain, and may result in life-threatening complications often related to the shunting of blood. This book not only highlights the current knowledge regarding diagnosis and treatment of HHT, but also the newest insights in the molecular basis of HHT, the understanding of which is essential for the development of new medicines or therapeutic strategies. |
| format | Online |
| id | doab-20.500.12854ir-76272 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-762722024-03-28T03:33:11Z Hereditary Hemorrhagic Telangiectasia Mager, Hans-Jurgen Bernabeu, Carmelo Post, Marco hereditary hemorrhagic telangiectasia rare diseases telangiectasis transforming growth factor-beta (TGF-β) Smad pathway gastrointestinal bleeding epistaxis nosebleeds tacrolimus nasal ointment genetic disease rare disease hereditary hemorrhagic telangiectasia (HHT) telangiectases mechanical damage sun-induced trauma vascular malformations Endoglin activin-receptor-like kinase 1 Hereditary Hemorrhagic Telangiectasia antithrombotic therapy anticoagulants antiplatelets bleeding safety HHT ALK1 endoglin raloxifene bazedoxifene tranexamic acid propranolol FK506 etamsylate N-acetylcysteine pulmonary arteriovenous malformations transcatheter embolotherapy screening guidelines Hereditary hemorrhagic telangiectasia pediatrics genotype–phenotype correlation arteriovenous malformation ENG ACVRL1 SMAD4 microRNA biomarker plasma arteriovenous malformations (AVMs) angiogenesis activin receptor-like kinase 1 (ALK1) transforming growth factor beta (TGF-β) bone morphogenetic protein (BMP) propranolol gel epistaxis severity score nasal endoscopy antiangiogenic properties non-coding RNAs microRNAs long non-coding RNAs biomarkers endothelial cells hereditary hemorrhagic telangiectasia (HHT), second-hit arteriovenous malformation (AVM) Smad4 inflammation shear stress vascular injury somatic mutation cell adhesion vascular endothelial growth factor (VEGF) telangiectasia hereditary hemorrhagic survival life expectancy pulmonary arteriovenous malformation contrast enhanced magnetic resonance angiography liver MRI ultrasound AVM bevacizumab Osler–Weber–Rendu hereditary hemorrhagic telangiectasia/HHT/osler’s disease cerebral ischemic lesions catheter based embolization therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease that affects the blood vessels, and is characterized by direct connections between arteries and veins with no intervening capillaries. These abnormal vessels may appear in the skin as tiny red dilated blood vessels in the mouth, lips, fingers and toes. The presence of these vascular lesions in the mucosa can lead to spontaneous and recurrent nose bleeding, typically beginning in mid-childhood, and this is the most common clinical manifestation of HHT, occurring in over 90% of patients. Gastrointestinal bleeding, derived from mucocutaneous vascular lesions, affects approximately 25% of patients, almost always presenting after the age of 50. Chronic nasal and gastrointestinal bleeding can cause iron-deficiency anemia, and current therapeutic strategies are trying to minimize iron and blood transfusions. HHT patients also present large vascular lesions, known as arteriovenous malformations, that occur in internal organs like lungs, liver, and brain, and may result in life-threatening complications often related to the shunting of blood. This book not only highlights the current knowledge regarding diagnosis and treatment of HHT, but also the newest insights in the molecular basis of HHT, the understanding of which is essential for the development of new medicines or therapeutic strategies. 2022-01-11T13:27:04Z 2022-01-11T13:27:04Z 2021 book ONIX_20220111_9783036505909_8 9783036505909 9783036505916 https://directory.doabooks.org/handle/20.500.12854/76272 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/3650 https://mdpi.com/books/pdfview/book/3650 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-0591-6 10.3390/books978-3-0365-0591-6 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036505909 9783036505916 228 Basel, Switzerland open access |
| spellingShingle | hereditary hemorrhagic telangiectasia rare diseases telangiectasis transforming growth factor-beta (TGF-β) Smad pathway gastrointestinal bleeding epistaxis nosebleeds tacrolimus nasal ointment genetic disease rare disease hereditary hemorrhagic telangiectasia (HHT) telangiectases mechanical damage sun-induced trauma vascular malformations Endoglin activin-receptor-like kinase 1 Hereditary Hemorrhagic Telangiectasia antithrombotic therapy anticoagulants antiplatelets bleeding safety HHT ALK1 endoglin raloxifene bazedoxifene tranexamic acid propranolol FK506 etamsylate N-acetylcysteine pulmonary arteriovenous malformations transcatheter embolotherapy screening guidelines Hereditary hemorrhagic telangiectasia pediatrics genotype–phenotype correlation arteriovenous malformation ENG ACVRL1 SMAD4 microRNA biomarker plasma arteriovenous malformations (AVMs) angiogenesis activin receptor-like kinase 1 (ALK1) transforming growth factor beta (TGF-β) bone morphogenetic protein (BMP) propranolol gel epistaxis severity score nasal endoscopy antiangiogenic properties non-coding RNAs microRNAs long non-coding RNAs biomarkers endothelial cells hereditary hemorrhagic telangiectasia (HHT), second-hit arteriovenous malformation (AVM) Smad4 inflammation shear stress vascular injury somatic mutation cell adhesion vascular endothelial growth factor (VEGF) telangiectasia hereditary hemorrhagic survival life expectancy pulmonary arteriovenous malformation contrast enhanced magnetic resonance angiography liver MRI ultrasound AVM bevacizumab Osler–Weber–Rendu hereditary hemorrhagic telangiectasia/HHT/osler’s disease cerebral ischemic lesions catheter based embolization therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general Hereditary Hemorrhagic Telangiectasia |
| title | Hereditary Hemorrhagic Telangiectasia |
| title_full | Hereditary Hemorrhagic Telangiectasia |
| title_fullStr | Hereditary Hemorrhagic Telangiectasia |
| title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia |
| title_short | Hereditary Hemorrhagic Telangiectasia |
| title_sort | hereditary hemorrhagic telangiectasia |
| topic | hereditary hemorrhagic telangiectasia rare diseases telangiectasis transforming growth factor-beta (TGF-β) Smad pathway gastrointestinal bleeding epistaxis nosebleeds tacrolimus nasal ointment genetic disease rare disease hereditary hemorrhagic telangiectasia (HHT) telangiectases mechanical damage sun-induced trauma vascular malformations Endoglin activin-receptor-like kinase 1 Hereditary Hemorrhagic Telangiectasia antithrombotic therapy anticoagulants antiplatelets bleeding safety HHT ALK1 endoglin raloxifene bazedoxifene tranexamic acid propranolol FK506 etamsylate N-acetylcysteine pulmonary arteriovenous malformations transcatheter embolotherapy screening guidelines Hereditary hemorrhagic telangiectasia pediatrics genotype–phenotype correlation arteriovenous malformation ENG ACVRL1 SMAD4 microRNA biomarker plasma arteriovenous malformations (AVMs) angiogenesis activin receptor-like kinase 1 (ALK1) transforming growth factor beta (TGF-β) bone morphogenetic protein (BMP) propranolol gel epistaxis severity score nasal endoscopy antiangiogenic properties non-coding RNAs microRNAs long non-coding RNAs biomarkers endothelial cells hereditary hemorrhagic telangiectasia (HHT), second-hit arteriovenous malformation (AVM) Smad4 inflammation shear stress vascular injury somatic mutation cell adhesion vascular endothelial growth factor (VEGF) telangiectasia hereditary hemorrhagic survival life expectancy pulmonary arteriovenous malformation contrast enhanced magnetic resonance angiography liver MRI ultrasound AVM bevacizumab Osler–Weber–Rendu hereditary hemorrhagic telangiectasia/HHT/osler’s disease cerebral ischemic lesions catheter based embolization therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general |
| topic_facet | hereditary hemorrhagic telangiectasia rare diseases telangiectasis transforming growth factor-beta (TGF-β) Smad pathway gastrointestinal bleeding epistaxis nosebleeds tacrolimus nasal ointment genetic disease rare disease hereditary hemorrhagic telangiectasia (HHT) telangiectases mechanical damage sun-induced trauma vascular malformations Endoglin activin-receptor-like kinase 1 Hereditary Hemorrhagic Telangiectasia antithrombotic therapy anticoagulants antiplatelets bleeding safety HHT ALK1 endoglin raloxifene bazedoxifene tranexamic acid propranolol FK506 etamsylate N-acetylcysteine pulmonary arteriovenous malformations transcatheter embolotherapy screening guidelines Hereditary hemorrhagic telangiectasia pediatrics genotype–phenotype correlation arteriovenous malformation ENG ACVRL1 SMAD4 microRNA biomarker plasma arteriovenous malformations (AVMs) angiogenesis activin receptor-like kinase 1 (ALK1) transforming growth factor beta (TGF-β) bone morphogenetic protein (BMP) propranolol gel epistaxis severity score nasal endoscopy antiangiogenic properties non-coding RNAs microRNAs long non-coding RNAs biomarkers endothelial cells hereditary hemorrhagic telangiectasia (HHT), second-hit arteriovenous malformation (AVM) Smad4 inflammation shear stress vascular injury somatic mutation cell adhesion vascular endothelial growth factor (VEGF) telangiectasia hereditary hemorrhagic survival life expectancy pulmonary arteriovenous malformation contrast enhanced magnetic resonance angiography liver MRI ultrasound AVM bevacizumab Osler–Weber–Rendu hereditary hemorrhagic telangiectasia/HHT/osler’s disease cerebral ischemic lesions catheter based embolization therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general |
| url | ONIX_20220111_9783036505909_8 |