Hemophagocytic syndrome and critical Illness: New insights into diagnosis and management

Journal of Intensive Care Medicine

Volumn 30, Issue 7, 2015, Pages 401-412

  Tothova, Zuzana ^a,b   Berliner, Nancy ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

ferritin; hemophagocytic lymphohistiocytosis; hemophagocytic syndrome; HPS

Indexed keywords

ALEMTUZUMAB; CYCLOSPORIN; CYTOTOXIC AGENT; DEXAMETHASONE; ETOPOSIDE; GAMMA INTERFERON; IMMUNOSUPPRESSIVE AGENT; RITUXIMAB; STEROID; ANTINEOPLASTIC AGENT;

ACQUIRED HEMOPHAGOCYTIC SYNDROME; CLINICAL PROTOCOL; CRITICAL ILLNESS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; FAMILIAL DISEASE; FAMILIAL HEMOPHAGOCYTIC SYNDROME; HEMOPHAGOCYTIC SYNDROME; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; INCIDENCE; INTENSIVE CARE; MEDICAL HISTORY; NONHUMAN; PATHOPHYSIOLOGY; PATIENT CARE; PEDIATRICS; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; REVIEW; SALVAGE THERAPY; STEM CELL TRANSPLANTATION; CLASSIFICATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; INTENSIVE CARE UNIT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC;

ANTINEOPLASTIC AGENTS; CRITICAL CARE; DIAGNOSIS, DIFFERENTIAL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INTENSIVE CARE UNITS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; SALVAGE THERAPY;

EID: 84941208459     PISSN: 08850666     EISSN: 15251489     Source Type: Journal    
DOI: 10.1177/0885066613517076     Document Type: Review

References (84)

1. Farquhar JW, Claireaux AE,. Familial haemophagocytic reticulosis. Arch Dis Child. 1952; 27 (136): 519-525.
2. Janka GE,. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med. 2012; 63: 233-246.
3. Rosado FG, Kim AS,. Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. Am J Clin Pathol. 2013; 139 (6): 713-727.
4. Weitzman S,. Approach to hemophagocytic syndromes. Hematology Am Soc Hematol Educ Program. 2011; 2011: 178-183.
5. Henter JI, Elinder G, Soder O, Ost A,. Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis. Acta Paediatr Scand. 1991; 80 (4): 428-435.
6. Gurgey A, Gogus S, Ozyurek E,. Primary hemophagocytic lymphohistiocytosis in Turkish children. Pediatr Hematol Oncol. 2003; 20 (5): 367-371.
7. Niece JA, Rogers ZR, Ahmad N, Langevin AM, McClain KL,. Hemophagocytic lymphohistiocytosis in Texas: observations on ethnicity and race. Pediatr Blood Cancer. 2010; 54 (3): 424-428.
8. Allen CE, Yu X, Kozinetz CA, McClain KL,. Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008; 50 (6): 1227-1235.
9. Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL,. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011; 118 (15): 4041-452.
10. Feldmann J, Callebaut I, Raposo G,. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003; 115 (4): 461-473.
11. Ohadi M, Lalloz MR, Sham P,. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet. 1999; 64 (1): 165-171.
12. Stepp SE, Dufourcq-Lagelouse R, Le Deist F,. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999; 286 (5446): 1957-1959.
13. zur Stadt U, Schmidt S, Kasper B,. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005; 14 (6): 827-834.
14. Cote M, Menager MM, Burgess A,. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009; 119 (12): 3765-3773.
15. Arico M, Imashuku S, Clementi R,. Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood. 2001; 97 (4): 1131-1133.
16. Rubin CM, Burke BA, McKenna RW,. The accelerated phase of Chediak-Higashi syndrome. an expression of the virus-associated hemophagocytic syndrome? Cancer. 1985; 56 (3): 524-530.
17. Menasche G, Pastural E, Feldmann J,. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000; 25 (2): 173-176.
18. Enders A, Zieger B, Schwarz K,. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood. 2006; 108 (1): 81-87.
19. Rigaud S, Fondaneche MC, Lambert N,. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444 (7115): 110-114.
20. Grunebaum E, Zhang J, Dadi H, Roifman CM,. Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency. Br J Haematol. 2000; 108 (4): 834-837.
21. Huck K, Feyen O, Niehues T,. Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest. 2009; 119 (5): 1350-13858.
22. McClain K, Gehrz R, Grierson H, Purtilo D, Filipovich A,. Virus-associated histiocytic proliferations in children. frequent association with Epstein-Barr virus and congenital or acquired immunodeficiencies. Am J Pediatr Hematol Oncol. 1988; 10 (3): 196-205.
23. Chen TL, Wong WW, Chiou TJ,. Hemophagocytic syndrome: an unusual manifestation of acute human immunodeficiency virus infection. Int J Hematol. 2003; 78 (5): 450-452.
24. Fardet L, Blum L, Kerob D,. Human herpesvirus 8-associated hemophagocytic lymphohistiocytosis in human immunodeficiency virus-infected patients. Clin Infect Dis. 2003; 37 (2): 285-291.
25. Suzuki N, Morimoto A, Ohga S, Kudo K, Ishida Y, Ishii E,. Characteristics of hemophagocytic lymphohistiocytosis in neonates: a nationwide survey in Japan. J Pediatr. 2009; 155 (2): 235-8 e1.
26. Dutta U, Mittal S, Ratho RK, Das A,. Acute liver failure and severe hemophagocytosis secondary to parvovirus B19 infection. Indian J Gastroenterol. 2005; 24 (3): 118-119.
27. Imashuku S,. Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Crit Rev Oncol Hematol. 2002; 44 (3): 259-272.
28. Risdall RJ, Brunning RD, Hernandez JI, Gordon DH,. Bacteria-associated hemophagocytic syndrome. Cancer. 1984; 54 (12): 2968-2972.
29. Brastianos PK, Swanson JW, Torbenson M, Sperati J, Karakousis PC,. Tuberculosis-associated haemophagocytic syndrome. Lancet Infect Dis. 2006; 6 (7): 447-454.
30. Numata K, Tsutsumi H, Wakai S, Tachi N, Chiba S,. A child case of haemophagocytic syndrome associated with cryptococcal meningoencephalitis. J Infect. 1998; 36 (1): 118-119.
31. Rouphael NG, Talati NJ, Vaughan C, Cunningham K, Moreira R, Gould C,. Infections associated with haemophagocytic syndrome. Lancet Infect Dis. 2007; 7 (12): 814-822.
32. Falini B, Pileri S, De Solas I,. Peripheral T-cell lymphoma associated with hemophagocytic syndrome. Blood. 1990; 75 (2): 434-444.
33. Menard F, Besson C, Rince P,. Hodgkin lymphoma-associated hemophagocytic syndrome: a disorder strongly correlated with Epstein-Barr virus. Clin Infect Dis. 2008; 47 (4): 531-534.
34. Miyahara M, Sano M, Shibata K,. B-cell lymphoma-associated hemophagocytic syndrome: clinicopathological characteristics. Ann Hematol. 2000; 79 (7): 378-388.
35. O'Brien MM, Lee-Kim Y, George TI, McClain KL, Twist CJ, Jeng M,. Precursor B-cell acute lymphoblastic leukemia presenting with hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2008; 50 (2): 381-383.
36. Okuda T, Sakamoto S, Deguchi T,. Hemophagocytic syndrome associated with aggressive natural killer cell leukemia. Am J Hematol. 1991; 38 (4): 321-323.
37. Yamazaki S, Nakamura F, Nasu R, Nannya Y, Ichikawa M, Kurokawa M,. Haemophagocytic lymphohistiocytosis is a recurrent and specific complication of acute erythroid leukaemia. Br J Haematol. 2011; 153 (5): 669-672.
38. Shimizu Y, Tanae K, Takahashi N,. Primary cutaneous anaplastic large-cell lymphoma presenting with hemophagocytic syndrome: a case report and review of the literature. Leuk Res. 2010; 34 (2): 263-266.
39. Tatsuta H, Hoso T, Takagi T,. Small cell lung cancer presenting as hemophagocytic syndrome [in Japanese]. Nihon Naika Gakkai Zasshi. 2005; 94 (4): 756-758.
40. Koizumi K, Haseyama Y, Machino R, Sato Y, Sawada K, Koike T,. The hemophagocytic syndrome in prostate cancer revealed by disseminated carcinomatosis of the bone marrow. J Urol. 2002; 168 (3): 1101-1102.
41. Sakai T, Shiraki K, Deguchi M,. Hepatocellular carcinoma associated with hemophagocytic syndrome. Hepatogastroenterology. 2001; 48 (41): 1464-1466.
42. Takagi S, Masuoka K, Uchida N,. High incidence of haemophagocytic syndrome following umbilical cord blood transplantation for adults. Br J Haematol. 2009; 147 (4): 543-553.
43. Karras A, Thervet E, Legendre C,. Hemophagocytic syndrome in renal transplant recipients: report of 17 cases and review of literature. Transplantation. 2004; 77 (2): 238-243.
44. Atteritano M, David A, Bagnato G,. Haemophagocytic syndrome in rheumatic patients. A systematic review. Eur Rev Med Pharmacol Sci. 2012; 16 (10): 1414-1424.
45. Wong KF, Hui PK, Chan JK, Chan YW, Ha SY,. The acute lupus hemophagocytic syndrome. Ann Intern Med. 1991; 114 (5): 387-390.
46. Morris JA, Adamson AR, Holt PJ, Davson J,. Still's disease and the virus-associated haemophagocytic syndrome. Ann Rheum Dis. 1985; 44 (5): 349-353.
47. Benm'rad M, Leclerc-Mercier S, Blanche P,. Drug-induced hypersensitivity syndrome: clinical and biologic disease patterns in 24 patients. Medicine (Baltimore). 2009; 88 (3): 131-140.
48. Knutson MD, Vafa MR, Haile DJ, Wessling Resnick M,. Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages. Blood. 2003; 102 (12): 4191-4197.
49. Selleri C, Sato T, Anderson S, Young NS, Maciejewski JP,. Interferon-gamma and tumor necrosis factor-alpha suppress both early and late stages of hematopoiesis and induce programmed cell death. J Cell Physiol. 1995; 165 (3): 538-546.
50. 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): 735-743.
51. Nagafuji K, Nonami A, Kumano T,. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. Haematologica. 2007; 92 (7): 978-981.
52. Zhang K, Jordan MB, Marsh RA,. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011; 118 (22): 5794-5798.
53. Feldmann J, Le Deist F, Ouachee Chardin M,. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2002; 117 (4): 965-972.
54. Molleran Lee S, Villanueva J, Sumegi J,. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004; 41 (2): 137-144.
55. Horne A, Ramme KG, Rudd E,. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol. 2008; 143 (1): 75-83.
56. Chuang HC, Lay JD, Hsieh WC,. Epstein-Barr virus LMP1 inhibits the expression of SAP gene and upregulates Th1 cytokines in the pathogenesis of hemophagocytic syndrome. Blood. 2005; 106 (9): 3090-3096.
57. Henter JI, Elinder G, Ost A,. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL study group of the histiocyte society. Semin Oncol. 1991; 18 (1): 29-33.
58. Henter JI, Horne A, Arico M,. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007; 48 (2): 124-131.
59. Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S,. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). Pediatr Blood Cancer. 2006; 46 (4): 482-488.
60. Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH,. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood. 2002; 99 (1): 61-66.
61. Lin TF, Ferlic-Stark LL, Allen CE, Kozinetz CA, McClain KL,. Rate of decline of ferritin in patients with hemophagocytic lymphohistiocytosis as a prognostic variable for mortality. Pediatr Blood Cancer. 2011; 56 (1): 154-155.
62. Komp DM, McNamara J, Buckley P,. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blood. 1989; 73 (8): 2128-2132.
63. Imashuku S, Hibi S, Sako M,. Soluble interleukin-2 receptor: a useful prognostic factor for patients with hemophagocytic lymphohistiocytosis. Blood. 1995; 86 (12): 4706-4707.
64. Bleesing J, Prada A, Siegel DM,. 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): 965-971.
65. Goel S, Polski JM, Imran H,. Sensitivity and specificity of bone marrow hemophagocytosis in hemophagocytic lymphohistiocytosis. Ann Clin Lab Sci. 2012; 42 (1): 21-25.
66. Tang Y, Xu X, Song H,. Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome. Br J Haematol. 2008; 143 (1): 84-91.
67. Xu XJ, Tang YM, Song H,. Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children. J Pediatr. 2012; 160 (6): 984-90 e1.
68. Henter JI, Samuelsson Horne A, Arico M,. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002; 100 (7): 2367-2373.
69. Trottestam H, Horne A, Arico M,. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011; 118 (17): 4577-4784.
70. Rajagopala S, Singh N, Agarwal R, Gupta D, Das R,. Severe hemophagocytic lymphohistiocytosis in adults-experience from an intensive care unit from North India. Indian J Crit Care Med. 2012; 16 (4): 198-203.
71. Shabbir M, Lucas J, Lazarchick J, Shirai K,. Secondary hemophagocytic syndrome in adults: a case series of 18 patients in a single institution and a review of literature. Hematol Oncol. 2011; 29 (2): 100-106.
72. Park HS, Kim DY, Lee JH,. Clinical features of adult patients with secondary hemophagocytic lymphohistiocytosis from causes other than lymphoma: an analysis of treatment outcome and prognostic factors. Ann Hematol. 2012; 91 (6): 897-904.
73. Strout MP, Seropian S, Berliner N,. Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis. Nat Rev Clin Oncol. 2010; 7 (7): 415-420.
74. Marsh RA, Allen CE, McClain KL,. Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab. Pediatr Blood Cancer. 2013; 60 (1): 101-109.
75. Cooper N, Rao K, Gilmour K,. Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood. 2006; 107 (3): 1233-1236.
76. Horne A, Janka G, Maarten Egeler R,. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol. 2005; 129 (5): 622-630.
77. Ouachee-Chardin M, Elie C, de Saint Basile G,. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics. 2006; 117 (4): e743-e750.
78. Baker KS, Filipovich AH, Gross TG,. Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Bone Marrow Transplant. 2008; 42 (3): 175-180.
79. Cooper N, Rao K, Goulden N, Webb D, Amrolia P, Veys P,. The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis. Bone Marrow Transplant. 2008; 42 suppl 2: S47-S50.
80. Marsh RA, Vaughn G, Kim MO,. Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation. Blood. 2010; 116 (26): 5824-5831.
81. Marsh RA, Rao K, Satwani P,. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood. 2013; 121 (6): 877-883.
82. Buyse S, Teixeira L, Galicier L,. Critical care management of patients with hemophagocytic lymphohistiocytosis. Intensive Care Med. 2010; 36 (10): 1695-1702.
83. Imashuku S,. Treatment of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH); update 2010. J Pediatr Hematol Oncol. 2011; 33 (1): 35-39.
84. Imashuku S, Kuriyama K, Teramura T,. Requirement for etoposide in the treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. J Clin Oncol. 2001; 19 (10): 2665-2673.