Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry
oleh: 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
| Format: | Article |
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| Diterbitkan: | Ferrata Storti Foundation 2024-02-01 |
Deskripsi
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