Hemophagocytic syndrome with hyperferritinemia: A stormy immunological response

摘要

Hemophagocytic syndrome (also known as hemophagocytic lympho-histiocytosis or macrophagic activating syndrome) is an excessive immunologi-cal response leading to a cytokine storm. Clinically, HPS mimics other diseases such as sepsis and hence is often undetected if not sought. The clinical diagnosis is based on five of eight findings: fever, splenomegaly, cytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hyperferri-tinemia (above 500 ng/ml), low or absent natural killer cell activity, and elevated soluble interleukin-2 receptor alpha levels. Molecular mutations (PRF1, UNC, Muncl8-2, Rab27a, STX11, SH2D1A, BIRC4) or hemopagocytic cells within the bone marrow biopsy are diagnostic. Early treatment includes steroids and/or cyclo-sporine. HPS secondary to Epstein-Barr virus infection is treated successfully with etoposide. In one study, the median time from suspicion to diagnosis was 5 days (range 1-27 days).