Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

• Main Authors: Lara Kollbrunner, Patricia Hirt-Minkowski, Javier Sanz, Elena Bresin, Thomas J. Neuhaus, Helmut Hopfer, Andreas W. Jehle
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2021-06-01
• Series: Frontiers in Medicine
• Subjects: case report; lipoprotein glomerulopathy; thrombotic microangiopathy; atypical hemolytic uremic syndrome; nephrotic syndrome; apolipoprotein E
• Online Access: https://www.frontiersin.org/articles/10.3389/fmed.2021.679048/full

Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.