Atypical hemolytic-uremic syndrome: etiopathogenesis, diagnosis and therapy

Abstract

Atypical hemolytic-uremic syndrome (aHUS) is one of the variants of primary thrombotic microangiopathies (TMA). It is based on chronic uncontrolled activation of the complement system due to mutations in the genes of regulatory proteins of the alternative pathway of the complement system of hereditary or acquired nature. The result of this is endothelial damage leading to generalized thrombus formation in the microvasculature (so-called complement-mediated TMA). The main manifestations are thrombocytopenia, microangiopathic hemolytic anemia and organ damage, making up the classic triad of TMA. The diagnosis of aHUS is a diagnosis of exclusion. It is established on the basis of the characteristic clinical picture after excluding all other forms of TMA, both primary and secondary. The treatment of aHUS is based on the use of plasma exchange and anti-C5 monoclonal antibodies.