Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.

摘要: Biochemical studies performed during the last decades resulted in development of various innovative medicinal products for hereditary angioedema (HAE). These therapeutic agents target production or function bradykinin—the main mediator HAE due to C1-inhibitor (C1-INH) deficiency. However, despite these remarkable achievements, current knowledge cannot provide convincing explanations clinical variability disease. As a consequence, treatment indications apply drugs available C1-INH The advent high-throughput next-generation sequencing technologies may assist covering missing part our understanding pathogenesis. During 3 years alone, several new entities were added already described genotypes. recent discovery four novel genes expands other causes which explain recurrent individuals and families with normal activity. Furthermore, genetic allowed recognition deep intronic variants associated disease, elegant functional characterized gene. Thus, evidence has been provided regarding pathogenetic aspects remaining obscure many years, such as defective intracellular transport mutant C1-INH, environmental effect on disease expression. Therefore, it seems that stage Precision Medicine era management is ready. Disease endotypes are expected be uncovered specified targets intervention will detected, promising more effective, individualized