Identification of a New Complement Factor H Mutation in a Patient With Pregnancy-Related Acute Kidney Injury

Severe microangiopathic hemolytic anemia and thrombocytopenia during pregnancy or during the postpartum period requires a differential diagnosis between hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, thrombotic thrombocytopenic purpura, and complement-mediated thrombotic microangiopathy. The 3 diseases may merge into one another, overlap syndromes are increasingly described, and the differential diagnosis may sometimes be allowed only by genetic analysis. The case here described may stress the importance of early diagnosis and prompt treatment but suggests also that the challenge of pregnancy may represent a unique occasion for the diagnosis of rare diseases.