Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes
Sjoerd A.M.E.G. Timmermans, Jan Damoiseaux, Alexis Wérion, Chris Reutelingsperger, Johann Morelle, Pieter van Paassen
Abstract
INTRODUCTION: The syndromes of thrombotic microangiopathy (TMA) are diverse and represent severe endothelial damage caused by various mechanisms. The complement system plays a major role in a subset of patients with TMA, and its recognition is of clinical importance because it guides choice and duration of treatment. METHODS: C5b9 formation on the endothelium and screening for rare variants in complement genes can better categorize TMA. RESULTS: C5b9 formation had an acute, nonrelapsing form of TMA. CONCLUSIONS: C5b9 formation and genetic testing appears to categorize TMAs into different groups because it identifies complement as a driving factor of disease, with potential therapeutic and prognostic implications.