A life-threatening case of pregnancy-related atypical Haemolytic uremic syndrome and successful treatment with Eculizumab

Abstract

Background Pregnancy-related Atypical Haemolytic Uremic Syndrome (P-aHUS) is a rare condition affecting genetically predisposed women during pregnancy. It is often difficult to diagnose and has a significant impact on maternal and foetal outcomes. It is characterised by microangiopathic haemolytic anaemia and kidney injury from thrombotic microangiopathy. Case presentation A 27-year-old female of Lebanese descent presented at 36 weeks’ gestation with foetal death in-utero (FDIU) with placental abruption on a background of previously normal antenatal visits. She was coagulopathic and anaemic with anuric acute kidney injury, requiring emergency Caesarean section, intubation and dialysis. Her coagulopathy rapidly resolved, however, her anaemia and renal dysfunction persisted. A diagnosis of P-aHUS was made, and she was empirically treated with Eculizumab. Her ADAMTS13 level was normal, effectively excluding thrombotic thrombocytopenic purpura. Within 2 weeks of treatment her haematological parameters improved, and her renal function began to recover and within 2 months she became dialysis independent. Conclusion This case highlights the challenges of a timely diagnosis of P-aHUS from other pregnancy-related diseases. Although our patient is dialysis-independent, her risk of relapse remains high with subsequent pregnancies. Currently we are awaiting her genetic sequencing to complete her assessment for underlying mutations and are determining the safest approach to a future planned pregnancy.

Pregnancy‐associated atypical hemolytic uremic syndrome. Case report

“…HUS shares physiopathological bases with the HELLP syndrome, to differentiate if it is a HELLP syndrome, ADAMTS13 is determined and also the elevation of tyrosine kinase (soluble Fms‐Like Tyrosine Kinase‐1, tyrosine kinase protein with antiangiogenic properties [sFlt‐1]) by podocytes and placenta, respectively, 13 combined with hyperactivation of complement in both diseases, causing endothelial injury and a proinflammatory response leading to a microangiopathy and a multiorgan injury. Both aHUS and HELLP syndrome frequently develop arterial hypertension: aHUS in 50%–80% cases, and HELLP syndrome in 80%–100% cases; however, due to septic shock, we did not record the elevated artery pressure 14 . Because we did not explore some markers, such as sFlt‐1 or PlGF (placental growth factor, angiogenic factor in pregnancy), we cannot discard an overlapping between HELLP syndrome and P‐aHUS; however, the clinical response to eculizumab strongly suggests the P‐aHUS diagnosis.…”

Successful Management of Atypical Hemolytic-Uremic Syndrome in Pregnancy Using Eculizumab: A Case Review

“…While plasma exchange was started early, it failed to improve symptoms. The patient was then treated with eculizumab, which improved symptoms and remission [17,18].…”

No HELLP at all: Post-partum atypical hemolytic uremic syndrome treated with Eculizumab: A case report

“…Just having a gene mutation alone usually will not cause the disease. In adults with CM-TMA, gene variants appear to be more common than autoantibodies [14]. Complement testing for pathogenic variants in complement genes and for autoantibodies directed against CFH wasn't done as results of complement testing would've been done at outside facility and the results would've been delayed for weeks.…”