Hereditary Hemorrhagic Telangiectasia : Recent Advances and Future Challenges
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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Mager, Hans-Jurgen edt Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges Hereditary Hemorrhagic Telangiectasia Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021 1 electronic resource (228 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Research & information: general bicssc 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 3-0365-0590-3 3-0365-0591-1 Bernabeu, Carmelo edt Post, Marco edt Mager, Hans-Jurgen oth Bernabeu, Carmelo oth Post, Marco oth |
language |
English |
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eBook |
author2 |
Bernabeu, Carmelo Post, Marco Mager, Hans-Jurgen Bernabeu, Carmelo Post, Marco |
author_facet |
Bernabeu, Carmelo Post, Marco Mager, Hans-Jurgen Bernabeu, Carmelo Post, Marco |
author2_variant |
h j m hjm c b cb m p mp |
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HerausgeberIn HerausgeberIn Sonstige Sonstige Sonstige |
title |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
spellingShingle |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
title_sub |
Recent Advances and Future Challenges |
title_full |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
title_fullStr |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
title_full_unstemmed |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
title_auth |
Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
title_alt |
Hereditary Hemorrhagic Telangiectasia |
title_new |
Hereditary Hemorrhagic Telangiectasia |
title_sort |
hereditary hemorrhagic telangiectasia recent advances and future challenges |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
publishDate |
2021 |
physical |
1 electronic resource (228 p.) |
isbn |
3-0365-0590-3 3-0365-0591-1 |
illustrated |
Not Illustrated |
work_keys_str_mv |
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Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges |
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