TY - BOOK ID - 134347467 TI - Hereditary Hemorrhagic Telangiectasia : Recent Advances and Future Challenges AU - Mager, Hans-Jurgen AU - Bernabeu, Carmelo AU - Post, Marco PY - 2021 PB - Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute DB - UniCat KW - Research & information: general KW - hereditary hemorrhagic telangiectasia KW - rare diseases KW - telangiectasis KW - transforming growth factor-beta (TGF-β) KW - Smad pathway KW - gastrointestinal bleeding KW - epistaxis KW - nosebleeds KW - tacrolimus KW - nasal ointment KW - genetic disease KW - rare disease KW - hereditary hemorrhagic telangiectasia (HHT) KW - telangiectases KW - mechanical damage KW - sun-induced trauma KW - vascular malformations KW - Endoglin KW - activin-receptor-like kinase 1 KW - Hereditary Hemorrhagic Telangiectasia KW - antithrombotic therapy KW - anticoagulants KW - antiplatelets KW - bleeding KW - safety KW - HHT KW - ALK1 KW - endoglin KW - raloxifene KW - bazedoxifene KW - tranexamic acid KW - propranolol KW - FK506 KW - etamsylate KW - N-acetylcysteine KW - pulmonary arteriovenous malformations KW - transcatheter embolotherapy KW - screening KW - guidelines KW - Hereditary hemorrhagic telangiectasia KW - pediatrics KW - genotype–phenotype correlation KW - arteriovenous malformation KW - ENG KW - ACVRL1 KW - SMAD4 KW - microRNA KW - biomarker KW - plasma KW - arteriovenous malformations (AVMs) KW - angiogenesis KW - activin receptor-like kinase 1 (ALK1) KW - transforming growth factor beta (TGF-β) KW - bone morphogenetic protein (BMP) KW - propranolol gel KW - epistaxis severity score KW - nasal endoscopy KW - antiangiogenic properties KW - non-coding RNAs KW - microRNAs KW - long non-coding RNAs KW - biomarkers KW - endothelial cells KW - hereditary hemorrhagic telangiectasia (HHT), second-hit KW - arteriovenous malformation (AVM) KW - Smad4 KW - inflammation KW - shear stress KW - vascular injury KW - somatic mutation KW - cell adhesion KW - vascular endothelial growth factor (VEGF) KW - telangiectasia KW - hereditary hemorrhagic KW - survival KW - life expectancy KW - pulmonary arteriovenous malformation KW - contrast enhanced magnetic resonance angiography KW - liver KW - MRI KW - ultrasound KW - AVM KW - bevacizumab KW - Osler–Weber–Rendu KW - hereditary hemorrhagic telangiectasia/HHT/osler’s disease KW - cerebral ischemic lesions KW - catheter based embolization therapy UR - https://www.unicat.be/uniCat?func=search&query=sysid:134347467 AB - 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. ER -