Work

Plasminogen mutation–associated thrombotic microangiopathy and role of anticoagulation: a single institution case series

Year: 2025

Type: article

Abstract: Background: ) gene in the pathogenesis of thrombotic microangiopathy (TMA) and treatment outcomes. Objectives: mutations and perform structural mapping of the variants to enhance variant interpretation. Methods: variants was performed using X-ray structural data. Results: = 3, 50%) had recurrent TMA, with 1 having recurrent episodes while on long-term complement blockade therapy. Three patients are now on long-term anticoagulation with no further TMA recurrences observed. Structural mapping of the variants revealed that the mutations could be categorized into 3 groups. Among these, group 2 variants (residues K38 in the PAN-apple domain and residue R523 in kringle-5) had a more severe phenotype with severe thrombocytopenia at presentation and a recurrent TMA course. Conclusion: mutations.

Source: Research and Practice in Thrombosis and Haemostasis

DOI: 10.1016/j.rpth.2025.103012

Authors: Shreya Agarwal, Nicola Pozzi, Senthil Sukumar, Camila Masias, Anuja Java, Spero Cataland