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

BMC Nephrol. 2020 Nov 17;21(1):488. doi: 10.1186/s12882-020-02100-4.

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.

Keywords: Eculizumab; Microangiopathic haemolytic anaemia; Pregnancy-related atypical Haemolytic uremic syndrome; Thrombotic microangiopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abruptio Placentae*
  • Acute Kidney Injury / etiology
  • Adult
  • Antibodies, Monoclonal, Humanized / therapeutic use*
  • Anuria / etiology
  • Atypical Hemolytic Uremic Syndrome / complications
  • Atypical Hemolytic Uremic Syndrome / diagnosis*
  • Atypical Hemolytic Uremic Syndrome / drug therapy
  • Complement Inactivating Agents / therapeutic use*
  • Diagnosis, Differential
  • Female
  • Fetal Death
  • Humans
  • Kidney / diagnostic imaging
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Pregnancy Complications / drug therapy
  • Thrombotic Microangiopathies / diagnosis

Substances

  • Antibodies, Monoclonal, Humanized
  • Complement Inactivating Agents
  • eculizumab