Prognostic Factors and Long-term Outcomes in 41 Children With Primary Hemophagocytic Lymphohistiocytosis: Report of a Single-center Experience and Review of the Literature

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory syndrome with diverse clinical manifestations leading to major diagnostic and therapeutic difficulties. This study aimed to evaluate clinical manifestations, prognostic factors, and long-term outcomes in children with primary HLH. Forty-one patients diagnosed with primary HLH were retrospectively evaluated for patient characteristics, HLH gene mutations, clinical and laboratory manifestations, prognostic factors, and long-term outcomes. The median age of the patients at the time of diagnosis was 3 months (minimum to maximum: 1 to 144 mo). There were 23 patients who had HLH mutation analysis performed, 10 patients with PRF1 mutation, 6 with STX11 mutation, and 7 with UNC13D mutation. Thirteen patients (31.7%) had central nervous system involvement. No correlation was found between overall survival and central nervous system involvement. The estimated 5-year overall survival for the patient who had hematopoietic stem cell transplantation was 9.4 times better than the patients who did not receive hematopoietic stem cell transplantation (81.3% vs 16.7%; P = 0.001). Median serum sodium and blood urea nitrogen levels were significantly higher in deceased HLH patients compared with surviving HLH patients (P = 0.043, and P = 0.017, respectively). Primary HLH has a poor outcome with high mortality, which necessitates well-designed and international clinical trials to improve diagnosis, therapy, and long-term outcomes.

Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry

“…Not surprisingly, overall survival and early mortality rates did not differ from the study results, to which those patients largely contributed. Two more recent Turkish studies on pHLH reported higher mortality rates, of 63% 22 and 81%. 19 Compared to the HLH-94 and HLH-2004 studies, we found a lower rate of post-transplant mortality (15% vs. 34% and 30%, respectively), which probably partially reflects the improvement of transplant procedures and supportive care in more recent years.…”