Hereditary hemorrhagic telangiectasia: recent advances and future challenges

228 p. (This book is a printed edition of the Special Issue Hereditary Hemorrhagic Telangiectasia: Recent Advances and Future Challenges that was published in JCM)Hereditary hemorrhagic telangiectasia (HHT) is an autosomal heritable disease, leading to vascular malformations, ranging from mucocutaneous telangiectases to large arteriovenous malformations, which can occur in different organs. HHT is associated with a decreased quality of life and severe complications. If untreated, the disease leads to decreased life expectancy. Recent years have brought advances in diagnosis and treatment, but not a cure for HHT. The exact molecular etiology is still unknown and there is an urgent need for more systematic research. Because understanding the mechanisms of disease is essential for the development of new medicines or therapeutic strategies, this book aims to highlight not only the current knowledge regarding the diagnosis and treatment of HHT, but also the newest insights into the molecular basis of HHT.Among the different contributions, we would like to emphasize: (i) the key role of a systematic screening and treatment of patients at HHT Centers (de Gussem et al. 2020), (ii) the knowledge about genetics, genotype-phenotype correlations, second-hits and circulating biomarkers of HHT (Bernabeu et al. 2020; Cannavicci et al. 2020; Geisthoff et al. 2020; Kilian et al. 2020; Ruiz-Llorente et al. 2020); (iii) advances in imaging and treatment of arteriovenous malformations of the lung,liver and gastrointestinal tract using contrast-enhanced magnetic resonance angiography, computed tomography, endoscopy and embolotherapy (Daniel et al. 2020; Harwin et al. 2020; Mora-Lujan et al. 2020; Majumdar et al. 2020; Van den Heuvel et al. 2020; Schneider et al. 2021), and (iv)pharmacological strategies for HHT-related nose and gastrointestinal bleeding, using well known and repurposed drugs, including bevacizumab, propranolol, tacrolimus, and antithrombotic drugs(Albi ̃nana et al. 2020; Dupuis-Girod et al. 2020; Gaetani et al. 2020; Mei-Zahav et al. 2020;Mora-Lujan et al. 2020).Peer reviewe