Hemophagocytic Lymphohistiocytosis

Kaçar, Ayşe Gonca; Çelkan, Tiraje

doi:10.4274/balkanmedj.galenos.2022.2022-4-83

Cited by 18 publications

(21 citation statements)

References 118 publications

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“…This analysis also reported shorter periods from onset of disease to admission and from admission to definitive diagnosis, demonstrating that great strides have been made in the timely identification and management of HLH 8 . Despite this, most experts recognize that the rare and nonspecific nature of the disease results in diagnostic delay, primarily due to its overlap with other inflammatory disorders, including sepsis, liver disease, and Kawasaki disease 9 . The high mortality rate associated with untreated HLH and the dramatically improved outcomes of patients who are treated early in their disease course underscore the importance of effective management of HLH, which includes a prompt diagnosis, treatment of event triggers, and rapid initiation of immunosuppression 10 …”

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confidence: 79%

“…Therefore, the initial workup for HLH should aim to promptly establish a diagnosis of HLH, and identify mimickers or potentially treatable underlying conditions that are known to trigger HLH 14 . The diagnosis of HLH, especially among the pediatric population, has a poor prognosis, and delayed diagnosis adversely affects clinical outcomes 9 . For example, the survival of patients with familial HLH is estimated to be ~2 months without therapy 15 .…”

Section: Discussionmentioning

confidence: 99%

“…8 Despite this, most experts recognize that the rare and nonspecific nature of the disease results in diagnostic delay, primarily due to its overlap with other inflammatory disorders, including sepsis, liver disease, and Kawasaki disease. 9 The high mortality rate associated with untreated HLH and the dramatically improved outcomes of patients who are treated early in their disease course underscore the importance of effective management of HLH, which includes a prompt diagnosis, treatment of event triggers, and rapid initiation of immunosuppression. 10 Because of the diagnostic complexity of HLH, a multidisciplinary approach to the diagnosis and management of patients presenting with clinical features consistent with HLH is necessary to improve prognosis and survival.…”

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confidence: 99%

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Implementing a Disease-specific Multidisciplinary Team and Order Set for Hemophagocytic Lymphohistiocytosis in a Pediatric Hospital

Rousset,

Orr,

Gartstein

et al. 2023

Journal of Pediatric Hematology/Oncology

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Objective: To improve outcomes of hemophagocytic lymphohistiocytosis (HLH), prompt recognition and treatment are necessary. A HLH multidisciplinary team was implemented at our institution, and we established an electronic order set to foster uniformity in the diagnostic approach. The goal of this study is to capture the impact of this diagnostic tool. Methods: This is a retrospective study analyzing the utilization of a HLH-specific order set since time of implementation in June 2019 through December 2022. The trends in the utilization of the order set by providers were analyzed to evaluate the awareness and effectiveness of this tool. Results: The order set was utilized 50 times, most commonly by hematology/oncology (50%) and infectious disease (26%). Utilization by providers on newly presenting patients included 4 times in the year 2019, 12 times in 2020, 16 times in 2021, and 18 times in 2022. Utilization was associated with the diagnosis of HLH in 9 patients (18%). Conclusion: Implementation of an HLH-specific order set facilitated a systematic method to approach patients with suspected HLH. The utilization of the order set displayed an upward trend over time, indicating support of this tool among these providers. This tool can increase awareness and early identification of HLH.

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confidence: 79%

Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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Implementing a Disease-specific Multidisciplinary Team and Order Set for Hemophagocytic Lymphohistiocytosis in a Pediatric Hospital

Rousset,

Orr,

Gartstein

et al. 2023

Journal of Pediatric Hematology/Oncology

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“…In addition, the (over)activation of the cytotoxic T lymphocytes, NK cells, and macrophages induces a cytokine storm in which large amounts of cytokines including IL-1β, IL-6, IL-18, IFN-γ, and TNF-α are produced and released ( 48 ). This cytokine storm is thought to cause multi-organ failure in HLH ( 49 ). Patients with HLH usually have poor prognosis ( 50, 51 ), with the current treatments, mortality rates among HLH in adults are around 60% ( 52 ).…”

Section: Discussionmentioning

confidence: 99%

Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?

Zhou

Swagemakers

Lourens

et al. 2022

Preprint

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Neanderthals were a species of archaic human that became extinct around 40,000 years ago. Modern humans have inherited 1-6% of Neanderthal DNA as a result of interbreeding with the Neanderthals. These inherited Neanderthal genes have paradoxical influences, while some can provide protection to viral infections, some others are associated with autoimmune/auto-inflammatory diseases. We hypothesized that genetic variants with strong detrimental effects on the function of the immune system could potentially contributed to the extinction of the Neanderthal population. In modern humans more than 450 genes are associated with inborn errors of immunity (IEI). We used the publically available genome information from a Neanderthal from the Altai mountains and filtered for potentially damaging variants that were present in genes associated with IEI, and checked whether these variants were present in the genomes of the Denisovan, Vindija and Chagyrskaya Neanderthals. We identified 24 homozygous variants and 15 heterozygous variants in IEI-related genes in the Altai Neanderthal. Interestingly, two homozygous variants in the UNC13D gene and one variant in the MOGS gene were present in all archaic genomes. Defects in the UNC13D gene are known to cause a severe and often fatal disease called hemophagocytic lymphohistiocystosis (HLH). One of these variants p.(Asn943Ser) has been reported in patients with HLH. Variants in MOGS are associated with glycosylation defects in the immune system affecting the susceptibility for infections. So, although we do not know exactly the functional impact yet, these three variants could have resulted in an increased susceptibility to severe diseases, and may have contributed to the extinction of Neanderthals after exposure to specific infections.

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“…HLH should be considered for children presenting with persistent fever, hepatosplenomegaly, and cytopenias, because initiation of a timely treatment to suppress the severe hyperinflammation is imperative to greatly increase chances of survival among these patients. 3 Formation of a dedicated workgroup to HLH within a hospital system may aid in improving the approach to the diagnosis of HLH and increase awareness among providers. We note a recent study by Taylor et al that addressed the challenge of managing macrophage activation syndrome and HLH within an academic hospital institution through implementation of evidence-based guidelines that were established by consensus across multiple pediatric subspecialties.…”

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confidence: 99%