Haemophagocytic lymphohistiocytosis with collapsing lupus podocytopathy as an unusual manifestation of systemic lupus erythematosus with APOL1 double-risk alleles

BMJ Case Rep. 2019 Jan 14;12(1):bcr-2018-227860. doi: 10.1136/bcr-2018-227860.


Haemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome caused by excessive immune activation. Secondary HLH has been described in autoimmune diseases. We detail the case of a 28-year-old African American woman who developed HLH in the setting of systemic lupus erythematosus with collapsing lupus podocytopathy superimposed on mesangial proliferative lupus nephritis class II. Genotyping for APOL1 risk alleles revealed the presence of double (G1/G2) risk alleles. Our patient achieved a complete renal recovery and resolution of HLH within 1 month of treatment with steroids and mycophenolate mofetil, highlighting the importance of prompt, aggressive therapy.

Keywords: acute renal failure; haematology (INCL blood transfusion); proteinurea; renal system; systemic lupus erythematosus.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • African Americans / ethnology
  • Aftercare
  • Alleles
  • Apolipoprotein L1 / genetics*
  • Autoimmune Diseases
  • Diagnosis, Differential
  • Enzyme Inhibitors / therapeutic use
  • Female
  • Humans
  • Lupus Erythematosus, Systemic / complications*
  • Lupus Nephritis / classification
  • Lupus Nephritis / complications*
  • Lupus Nephritis / pathology
  • Lymphohistiocytosis, Hemophagocytic / diagnosis
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Mycophenolic Acid / administration & dosage
  • Mycophenolic Acid / therapeutic use
  • Rare Diseases
  • Steroids / administration & dosage
  • Steroids / therapeutic use
  • Treatment Outcome


  • APOL1 protein, human
  • Apolipoprotein L1
  • Enzyme Inhibitors
  • Steroids
  • Mycophenolic Acid