For the establishment of the clinical guideline for idiopathic thrombosis developing from the neonatal period to adulthood

Abstract

Idiopathic thrombosis developing in childhood has increased in incidence because of advances in medical technology and improved disease recognition. The genetic predisposition of pediatric thrombosis (thrombophilia) primarily consists of protein C, protein S, and antithrombin deficiencies. Evidence of thrombolysis, specific replacement, or anticoagulant therapy for these disorders does not exist. Moreover, trials for direct oral anticoagulants and specific replacement therapy for non-hereditary idiopathic thrombosis have also not proceeded. Hereditary thrombosis occurring in childhood leads to poor outcomes. Repetitive purpura fulminans require life-long anticoagulant therapy; however, a specific treatment strategy does not exist. Pregnancy and delivery of unaffected carriers could trigger maternal and infant thrombosis. Herein, we established a research project, “Establishment of a clinical algorithm for idiopathic thrombosis that develops from neonates to adults,” supported by the Japan Agency for Medical Research and Development in 2020–2022. This study proposed thrombosis underlying genetic predispositions as early-onset thrombosis/thrombophilia (EOT) and aimed to present a clinical guideline for EOT. In this symposium, we showed the progress of the EOT registry and the guideline.