Clinical features and correct diagnosis of macrophage activation syndrome

References

• Grom AA, Mellins ED. Macrophage activation syndrome: advances towards understanding pathogenesis. Curr Opin Rheumatol 2010;22(5):561-6
   PubMed Web of Science ®Google Scholar
• Ravelli A, Grom AA, Behrens EM, Cron RQ. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment. Genes Immun 2012;13(4):289-98
   PubMed Web of Science ®Google Scholar
• Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48(2):124-31
   PubMed Web of Science ®Google Scholar
• Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med 2012;63:233-46
   PubMed Web of Science ®Google Scholar
• Jenkins MR, Rudd-Schmidt JA, Lopez JA, et al. Failed CTL/NK cell killing and cytokine hypersecretion are directly linked through prolonged synapse time. J Exp Med 2015;212(3):307-17
   PubMed Web of Science ®Google Scholar
• Zhang K, Jordan MB, Marsh RA, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood 2011;118(22):5794-8
   PubMed Web of Science ®Google Scholar
• Zhang M, Behrens EM, Atkinson TP, et al. Genetic defects in cytolysis in macrophage activation syndrome. Curr Rheumatol Rep 2014;16(9):439-46
   PubMedGoogle Scholar
• Saltzman RW, Monaco-Shawver L, Zhang K, et al. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity. J Allergy Clin Immunol 2012;129(6):1666-8
   PubMed Web of Science ®Google Scholar
• Spessott WA, Sanmillan ML, McCormick ME, et al. Hemophagocytic lymphohistiocytosis caused by dominant negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood 2015;125(10):1566-77
   PubMed Web of Science ®Google Scholar
• Behrens EM, Canna SW, Slade K, et al. Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice. J Clin Invest 2011;121(6):2264-77
   PubMed Web of Science ®Google Scholar
• Caiello I, Minnone G, Holzinger D, et al. IL-6 amplifies TLR mediated cytokine and chemokine production: implications for the pathogenesis of rheumatic inflammatory diseases. Plos One 2014;9(10):e107886
   Google Scholar
• Sullivan KE, Delaat CA, Douglas SD, Filipovich AH. Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives. Pediatr Res 1998;44(4):465-8
   PubMed Web of Science ®Google Scholar
• Villanueva J, Lee S, Giannini EH, et al. Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome. Arthritis Res Ther 2005;7(1):R30-7
   PubMed Web of Science ®Google Scholar
• Maude SL, Frey N, Shaw PA, et al. Chimeric antigen receptor T cells for sustained remissions in leukemia. N Engl J Med 2014;371(16):1507-17
   PubMed Web of Science ®Google Scholar
• Schulert GS, Grom AA. Macrophage activation syndrome and cytokine-directed therapies. Best Pract Res Clin Rheumatol 2014;28(2):277-92
   PubMed Web of Science ®Google Scholar
• Weaver LK, Behrens EM. Hyperinflammation, rather than hemophagocytosis, is the common link between macrophage activation syndrome and hemophagocytic lymphohistiocytosis. Curr Opin Rheumatol 2014;26(5):562-9
   PubMed Web of Science ®Google Scholar
• Zhang L, Zhou J, Sokol L. Hereditary and acquired hemophagocytic lymphohistiocytosis. Cancer Contr 2014;21(4):301-12
   PubMedGoogle Scholar
• Ahmed A, Alvi AH, Butt A, et al. Assessment of dengue Fever severity through liver function tests. J Coll Physicians Surg Pak 2014;24(9):640-4
   PubMed Web of Science ®Google Scholar
• Bakir M, Ugurlu M, Dokuzoguz B, et al. Crimean-Congo haemorrhagic fever outbreak in Middle Anatolia: a multicentre study of clinical features and outcome measures. J Med Microbiol 2005;54(Pt 4):385-9
   PubMed Web of Science ®Google Scholar
• Bicakci Z, Tavil B, Tezer H, Olcay L. Hemophagocytosis in a case with Crimean-Congo hemorrhagic fever and an overview of possible pathogenesis with current evidence. Turk J Pediatr 2013;55(3):344-8
   PubMed Web of Science ®Google Scholar
• Homchampa P, Sarasombath S, Suvatte V, Vongskul M. Natural killer cells in dengue hemorrhagic fever/dengue shock syndrome. Asian Pac J Allergy Immunol 1988;6(2):95-102
   PubMed Web of Science ®Google Scholar
• Behrens EM, Beukelman T, Paessler M, Cron RQ. Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J Rheumatol 2007;34(5):1-8
   PubMedGoogle Scholar
• Bleesing J, Prada A, Siegel DM, et al. The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis. Arthritis Rheum 2007;56(3):965-71
   PubMed Web of Science ®Google Scholar
• Davi S, Lattanzi B, Demirkaya E, et al. Toward the development of new diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis. Ann Pediatr Rheumatol 2012;1:1-7
   Google Scholar
• Minoia F, Davi S, Horne A, et al. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol 2014;66(11):3160-9
   PubMed Web of Science ®Google Scholar
• Atteritano M, David A, Bagnato G, et al. Haemophagocytic syndrome in rheumatic patients. A systematic review. Eur Rev Med Pharmacol Sci 2012;16(10):1414-24
   PubMed Web of Science ®Google Scholar
• Parodi A, Davi S, Pringe AB, et al. Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients. Arthritis Rheum 2009;60(11):3388-99
   PubMed Web of Science ®Google Scholar
• Latino GA, Manlhiot C, Yeung RS, et al. Macrophage activation syndrome in the acute phase of Kawasaki disease. J Pediatr Hematol Oncol 2010;32(7):527-31
   PubMed Web of Science ®Google Scholar
• Daniels LB, Gordon JB, Burns JC. Kawasaki disease: late cardiovascular sequelae. Curr Opin Cardiol 2012;27(6):572-7
   PubMed Web of Science ®Google Scholar
• Dinarello CA. A clinical perspective of IL-1beta as the gatekeeper of inflammation. Eur J Immunol 2011;41(5):1203-17
   PubMed Web of Science ®Google Scholar
• Lee Y, Schulte DJ, Shimada K, et al. Interleukin-1beta is crucial for the induction of coronary artery inflammation in a mouse model of Kawasaki disease. Circulation 2012;125(12):1542-50
   PubMed Web of Science ®Google Scholar
• Shafferman A, Birmingham JD, Cron RQ. High dose anakinra for treatment of severe neonatal Kawasaki disease: a case report. Pediatr Rheumatol Online J 2014;12:26
   PubMedGoogle Scholar
• Miettunen PM, Narendran A, Jayanthan A, et al. Successful treatment of severe paediatric rheumatic disease-associated macrophage activation syndrome with interleukin-1 inhibition following conventional immunosuppressive therapy: case series with 12 patients. Rheumatology (Oxford) 2011;50(2):417-19
   PubMed Web of Science ®Google Scholar
• Nigrovic PA, Mannion M, Prince FH, et al. Anakinra as first-line disease-modifying therapy in systemic juvenile idiopathic arthritis: report of forty-six patients from an international multicenter series. Arthritis Rheum 2011;63(2):545-55
   PubMed Web of Science ®Google Scholar
• Efthimiou P, Kadavath S, Mehta B. Life-threatening complications of adult-onset Still’s disease. Clin Rheumatol 2014;33(3):305-14
   PubMed Web of Science ®Google Scholar
• Castillo L, Carcillo J. Secondary hemophagocytic lymphohistiocytosis and severe sepsis/systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of inflammation. Pediatr Crit Care Med 2009;10(3):387-92
   PubMed Web of Science ®Google Scholar
• Tothova Z, Berliner N. Hemophagocytic syndrome and critical illness: new insights into diagnosis and management. J Intensive Care Med 2014. [Epub ahead of print]
   PubMedGoogle Scholar
• Rogers JT, Andriotakis JL, Lacroix L, et al. Translational enhancement of H-ferritin mRNA by interleukin-1 beta acts through 5’ leader sequences distinct from the iron responsive element. Nucleic Acids Res 1994;22(13):2678-86
   PubMed Web of Science ®Google Scholar
• Allen CE, Yu X, Kozinetz CA, McClain KL. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2008;50(6):1227-35
   PubMed Web of Science ®Google Scholar
• Gorelik M, Fall N, Altaye M, et al. Follistatin-like protein 1 and the ferritin/erythrocyte sedimentation rate ratio are potential biomarkers for dysregulated gene expression and macrophage activation syndrome in systemic juvenile idiopathic arthritis. J Rheumatol 2013;40(7):1191-9
   PubMed Web of Science ®Google Scholar
• Gorelik M, Torok KS, Kietz DA, Hirsch R. Hypocomplementemia associated with macrophage activation syndrome in systemic juvenile idiopathic arthritis and adult onset still’s disease: 3 cases. J Rheumatol 2011;38(2):396-7
   PubMed Web of Science ®Google Scholar
• Wang W, Gong F, Zhu W, et al. Macrophage activation syndrome in Kawasaki disease: more common than we thought? Semin Arthritis Rheum 2015;44(4):405-10
   PubMed Web of Science ®Google Scholar
• Otrock ZK, Eby CS. Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis. Am J Hematol 2014
   Web of Science ®Google Scholar
• Parikh SA, Kapoor P, Letendre L, et al. Prognostic factors and outcomes of adults with hemophagocytic lymphohistiocytosis. Mayo Clin Proc 2014;89(4):484-92
   PubMed Web of Science ®Google Scholar
• Ravelli A, Magni-Manzoni S, Pistorio A, et al. Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Pediatr 2005;146(5):598-604
   PubMed Web of Science ®Google Scholar
• Kelly A, Ramanan AV. Recognition and management of macrophage activation syndrome in juvenile arthritis. Curr Opin Rheumatol 2007;19:477-81
   PubMed Web of Science ®Google Scholar
• Pelkonen P, Swanljung K, Siimes MA. Ferritinemia as an indicator of systemic disease activity in children with systemic juvenile rheumatoid arthritis. Acta Paediatr Scand 1986;75(1):64-8
   PubMed Web of Science ®Google Scholar
• Davi S, Minoia F, Pistorio A, et al. Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. Arthritis Rheumatol 2014;66:2871-80
   PubMed Web of Science ®Google Scholar
• Davi S, Consolaro A, Guseinova D, et al. An international consensus survey of diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis. J Rheumatol 2011;38(4):764-8
   PubMed Web of Science ®Google Scholar
• Minoia F, Davi S, Horne A, et al. Dissecting the heterogeneity of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. J Rheumatol 2015; In press
   PubMed Web of Science ®Google Scholar
• Pringe A, Trail L, Ruperto N, et al. Macrophage activation syndrome in juvenile systemic lupus erythematosus: an under-recognized complication? Lupus 2007;16(8):587-92
   PubMed Web of Science ®Google Scholar
• Fardet L, Galicier L, Lambotte O, et al. Development and validation of a score for the diagnosis of reactive hemophagocytic syndrome (HScore). Arthritis Rheumatol 2014;66(9):2613-20
   PubMed Web of Science ®Google Scholar
• Hejblum G, Lambotte O, Galicier L, et al. A web-based delphi study for eliciting helpful criteria in the positive diagnosis of hemophagocytic syndrome in adult patients. Plos One 2014;7:e94024
   Google Scholar
• De Benedetti F, Brunner HI, Ruperto N, et al. Randomized trial of tocilizumab in systemic juvenile idiopathic arthritis. N Engl J Med 2012;367:2385-95
   PubMed Web of Science ®Google Scholar
• Ruperto N, Brunner HI, Quartier P, et al. Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med 2012;367(25):2396-406
   PubMed Web of Science ®Google Scholar
• Jordan MB, Allen CE, Weitzman S, et al. How I treat hemophagocytic lymphohistiocytosis. Blood 2011;118(15):4041-52
   PubMed Web of Science ®Google Scholar
• Hadchouel M, Prieur AM, Griscelli C. Acute hemorrhagic, hepatic, and neurologic manifestations in juvenile rheumatoid arthritis: possible relationship to drugs or infection. J Pediatr 1985;106(4):561-6
   PubMed Web of Science ®Google Scholar
• Stephan JL, Kone-Paut I, Galambrun C, et al. Reactive haemophagocytic syndrome in children with inflammatory disorders. A retrospective study of 24 patients. Rheumatology (Oxford) 2001;40(11):1285-92
   PubMed Web of Science ®Google Scholar
• Chen RL, Lin KH, Lin DT, et al. Immunomodulation treatment for childhood virus-associated haemophagocytic lymphohistiocytosis. Br J Haematol 1995;89(2):282-90
   PubMed Web of Science ®Google Scholar
• Mahlaoui N, Ouachee-Chardin M, de Saint Basile G, et al. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics 2007;120(3):e622-8
   Google Scholar
• Chellapandian D, Das R, Zelley K, et al. Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens. Br J Haematol 2013;162(3):376-82
   PubMed Web of Science ®Google Scholar
• Henzan T, Nagafuji K, Tsukamoto H, et al. Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis. Am J Hematol 2006;81(1):59-61
   PubMed Web of Science ®Google Scholar
• Prahalad S, Bove KE, Dickens D, et al. Etanercept in the treatment of macrophage activation syndrome. J Rheumatol 2001;28(9):2120-4
   PubMed Web of Science ®Google Scholar
• Ramanan AV, Schneider R. Macrophage activation syndrome following initiation of etanercept in a child with systemic onset juvenile rheumatoid arthritis. J Rheumatol 2003;30(2):401-3
   PubMed Web of Science ®Google Scholar
• Sterba G, Sterba Y, Stempel C, et al. Macrophage activation syndrome induced by etanercept in a patient with systemic sclerosis. Isr Med Assoc J 2010;12(7):443-5
   PubMed Web of Science ®Google Scholar
• Rajasekaran S, Kruse K, Kovey K, et al. Therapeutic role of anakinra, an interleukin-1 receptor antagonist, in the management of secondary hemophagocytic lymphohistiocytosis/sepsis/multiple organ dysfunction/macrophage activating syndrome in critically ill children. Pediatr Crit Care Med 2014;15(5):401-8
   PubMed Web of Science ®Google Scholar
• Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood 2004;104(3):735-43
   PubMed Web of Science ®Google Scholar