The role of the initial bone marrow aspirate in the diagnosis of hemophagocytic lymphohistiocytosis

Gupta, Abha; Tyrrell, Pascal N.; Valani, Rahim; Benseler, Susanne M.; Weitzman, Sheila; Abdelhaleem, Mohamed

doi:10.1002/pbc.21564

Cited by 119 publications

(87 citation statements)

References 14 publications

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“…The demonstration of macrophage hemophagocytosis in the bone marrow aspirate is required only in doubtful cases. As noted in patients with HLH 18 and in several instances of MAS, 17 the bone marrow aspirate does not always show hemophagocytosis, and, furthermore, hemophagocytosis is not always demonstrable in the initial stages of the disease. Repeat bone marrow aspirate over time may eventually demonstrate hemophagocytosis.…”

Section: Introductionmentioning

confidence: 88%

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment

et al. 2012

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Macrophage activation syndrome (MAS) is a severe, frequently fatal complication of systemic juvenile idiopathic arthritis (sJIA) with features of hemophagocytosis leading to coagulopathy, pancytopenia, and liver and central nervous system dysfunction. MAS is overt in 10% of children with sJIA but occurs subclinically in another 30 --40%. It is difficult to distinguish sJIA disease flare from MAS. Development of criteria for establishing MAS as part of sJIA are under way and will hopefully prove sensitive and specific. Mutations in cytolytic pathway genes are increasingly being recognized in children who develop MAS as part of sJIA. Identification of these mutations may someday assist in MAS diagnosis. Defects in cytolytic genes have provided murine models of MAS to study pathophysiology and treatment. Recently, the first mouse model of MAS not requiring infection but rather dependent on repeated stimulation through Toll-like receptors was reported. This provides a model of MAS that may more accurately reflect MAS pathology in the setting of autoinflammation or autoimmunity. This model confirms the importance of a balance between pro-and anti-inflammatory cytokines. There has been remarkable progress in the use of anti-pro-inflammatory cytokine therapy, particularly against interleukin-1, in the treatment of secondary forms of MAS, such as in sJIA.

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Section: Introductionmentioning

confidence: 88%

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment

et al. 2012

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“…Hemophagocytosis may be found in many illnesses, including infections and bone marrow disorders. The challenge of assigning a diagnosis of HLH to a patient with hemophagocytosis detected on a tissue biopsy is that there is no consensus on the differentiation between pathologic and physiologic hemophagocytosis [6]. Moreover, hemophagocytic activity might not be present in the initial stages of HLH.…”

Section: Discussionmentioning

confidence: 99%

“…However, hemophagocytosis is not essential to establish the diagnosis of HLH. In addition, hemophagocytosis is often not detected at initial bone marrow aspirate, and serial bone marrow testing may be required to document hemophagocytosis [5,6].…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis

2015

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Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical syndrome characterized by the activation of the mononuclear phagocytic system. The diagnosis of HLH in adults is challenging not only because the majority of the reported data are from pediatric patients, but also because HLH occurs in many disease entities. This study reports the clinical and laboratory findings and prognostic factors of adult HLH in a large cohort managed at a single medical center from 2003 to 2014. Seventy-three patients met the HLH-2004 diagnostic criteria. The median age was 51 years (range, 18-82 years); 41 (56.2%) were male. Patients manifested fever, cytopenias, and elevated ferritin in >85% of cases. Likely causes of HLH were as follows: 30 (41.1%) infections, 21 (28.8%) malignancies, 5 (6.8%) attributed to autoimmune disorders, 1 (1.4%) primary immunodeficiency, 2 (2.7%) post solid organ transplantation, and 13 (17.8%) idiopathic. The median overall survival was 7.67 months. Patients with malignancy-associated HLH had a markedly worse survival compared with patients with non-malignancy-associated HLH (median overall survival 1.13 vs. 46.53 months, respectively; P < 0.0001). In a multivariable analysis, malignancy (hazard ratio 5 12.22; 95% CI: 2.53-59.02; P 5 0.002) correlated with poor survival. Ferritin >50,000 mg/L correlated with 30-day mortality. Survival after a diagnosis of HLH is dismal, especially among those with malignancy-associated HLH. The development of a registry for adults with HLH would improve our understanding of this syndrome, validate diagnostic criteria, and help develop effective treatment strategies.

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“…However, frank haemophagocytosis may not be observed early in the course of the disease, and serial marrow aspirates may be helpful. 58,59 Haemophagocytosis might be found in the first bone marrow aspiration of a FHLH patient but the absence of it will not rule out this diagnosis. As a result, if the bone marrow is not conclusive, material should be obtained from other organs e.g.…”

Section: Discussionmentioning

confidence: 99%

“…; liver, spleen, and lymph nodes 60,56 and occasionally the central nervous system , 61, 62 skin 63 and serial aspirates over time may also be helpful . 58,59 In our case, the bone marrow aspiration was performed and it revealed haemophagocytosis. Activated macrophages may engulf erythrocytes, leukocytes, and platelets, their precursors, and cellular fragments.…”

Section: Discussionmentioning

confidence: 99%

Haemophagocytic lymphohistiocytosis in Adult- A Case Report and Literature Review

Hossain

Qureshi

Mahmud

et al. 2016

J. Bangladesh Coll. Phys.

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The role of the initial bone marrow aspirate in the diagnosis of hemophagocytic lymphohistiocytosis

Abstract: The number of HPC at initial BMA is often low and variable, confirming that a BMA lacking HPC does not rule out the diagnosis of HLH, and a negative initial BMA should not delay therapy. We recommend that the BMA report should document negative as well as any positive findings of HPC.

Cited by 119 publications

References 14 publications

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment

Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis in Adult- A Case Report and Literature Review

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