Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry
Francesco Pegoraro,
Aurora Chinnici,
Linda Beneforti,
Michele Tanturli,
Irene Trambusti,
Carmela De Fusco,
Concetta Micalizzi,
Veronica Barat,
Simone Cesaro,
Stefania Gaspari,
Fabiola Dell’Acqua,
Alessandra Todesco,
Fabio Timeus,
Maurizio Aricò,
Claudio Favre,
Annalisa Tondo,
Maria Luisa Coniglio,
Elena Sieni,
AIEOP Histiocytosis Working Group
Affiliations
Francesco Pegoraro
Department of Health Sciences, University of Florence, Florence, Italy; Pediatric Hematology Oncology, Meyer Children’s Hospital IRCCS, Florence
Aurora Chinnici
Pediatric Hematology Oncology, Meyer Children’s Hospital IRCCS, Florence, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence
Linda Beneforti
Pediatric Hematology Oncology, Meyer Children’s Hospital IRCCS, Florence, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence
Michele Tanturli
Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence
Irene Trambusti
Pediatric Hematology Oncology, Meyer Children’s Hospital IRCCS, Florence, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa
Pediatric Hematology Oncology, Stem Cell Transplantation and Cell Therapy Division, A.O. Città della Salute e della Scienza-Ospedale Infantile Regina Margherita, Turin
Simone Cesaro
Paediatric Haematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata, Verona
Primary hemophagocytic lymphohistiocytosis (pHLH) is a severe, life-threatening hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway. Here we investigated the clinical presentation and outcome in a large cohort of 143 patients with pHLH diagnosed in the last 15 years and enrolled in the Italian registry. The median age at diagnosis was 12 months (IQR 2-81), and ninety-two patients (64%) fulfilled the HLH-2004 criteria. Out of 111 patients who received first-line combined therapy (HLH-94, HLH-2004, Euro-HIT protocols), 65 (59%) achieved complete response (CR) and 21 (19%) partial response (PR). Thereafter, 33 patients (30%) reactivated, and 92 (64%) received HSCT, 78 of whom (85%) survived and were alive at a median follow-up from diagnosis of 67 months. Thirty-six patients (25%) died before HSCT and 14 (10%) after. Overall, 93 patients (65%) were alive after a median follow-up of 30 months. Unadjusted predictors of non-response were age
