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Driving towards Precision Medicine for angioedema without wheals

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Autore
Germenis A.E., Cicardi M.
Data
2019
Language
en
DOI
10.1016/j.jaut.2019.102312
Soggetto
biological marker
angiopoietin 1
ANGPT1 protein, human
blood clotting factor 12
complement component C1s inhibitor
SERPING1 protein, human
angioneurotic edema
blood biochemistry
clinical trial (topic)
human
patient participation
personalized medicine
priority journal
Review
taxonomy
angioneurotic edema
genetics
immunology
Angioedemas, Hereditary
Angiopoietin-1
Complement C1 Inhibitor Protein
Factor XII
Precision Medicine
Academic Press
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Abstract
Evidence accumulated over the last two decades indicates that recurrent angioedema without wheals constitutes a diverse family of disorders with a much higher complexity than was previously regarded. Indicatively, during the last two years, novel variants of three genes other than SERPING1 and F12 have been identified in association with hereditary angioedema. Most interestingly, functional studies of at least one of these variants (the variant c.807G > T of ANGPT1 gene) imply the existence of a new disease endotype in which the altered bradykinin metabolism and function does not play a central role. Therefore, using conventional approaches, it seems that the complexity of this disease cannot be sufficiently elucidated and any attempt to interrelate its many diverse aspects seems unrealistic. Similar to other rare and chronic diseases, a Precision Medicine approach, discovering the right target and giving “the right drug, for the right patient, at the right time, every time” seems the optimal future practice. Herein, we review recent data challenging and dictating the need for a switch of angioedema research into high-throughput approaches and we present the expected advantages for better understanding of the disease and patients management. © 2019 Elsevier Ltd
URI
http://hdl.handle.net/11615/72211
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