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

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 erythemat...

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Veröffentlicht in:	BMJ case reports 2019-01, Vol.12 (1), p.bcr-2018-227860
Hauptverfasser:	Chokshi, Bhavin, D’Agati, Vivette, Bizzocchi, Lilian, Johnson, Beverly, Mendez, Barbara, Jim, Belinda
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult African Americans - ethnology Aftercare Alleles Apolipoprotein L1 - genetics Apolipoproteins Autoimmune Diseases Blood Case reports Cytomegalovirus Dehydrogenases Diagnosis, Differential Enzyme Inhibitors - therapeutic use Female Hepatitis Humans Kidney diseases Laboratories Lupus Lupus Erythematosus, Systemic - complications Lupus Nephritis - classification Lupus Nephritis - complications Lupus Nephritis - pathology Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - genetics Microscopy Mutation Mycophenolic Acid - administration & dosage Mycophenolic Acid - therapeutic use Nephrology Patients Proteins Rare Disease Rare Diseases Steroids - administration & dosage Steroids - therapeutic use Treatment Outcome Ultrasonic imaging Urinalysis Urine
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Zusammenfassung:	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.
ISSN:	1757-790X 1757-790X
DOI:	10.1136/bcr-2018-227860