[Hemophagocytic lymphohistiocytosis : A diagnostic challenge on the ICU].
BACKGROUND
Hemophagocytic lymphohistiocytosis (HLH) has well been studied as a genetic disorder in children (primary HLH). Mutations in the regulatory complex of the cellular immune synapse lead to a loss of function of cytotoxic T‑cells and natural killer cells with excessive inflammation based on a cytokine storm. During the last decade, an increasing number of adult HLH patients without a family history of HLH (secondary or acquired HLH) have been reported. Various triggers - infections, malignancies or autoimmune diseases - result in an acquired loss of function of these cells and a sepsis-like disease. Missed or late diagnosis is believed to be a major cause of the high mortality.


OBJECTIVE
To describe the current knowledge on HLH and to raise awareness.


METHODS
Analysis of case reports, current studies, and expert recommendations.


RESULTS
Increased vigilance in identifying the adult form of HLH resulted in an increasing number of case reports over the past few years. HLH patients typically present with a clinical phenotype resembling severe sepsis or septic shock with fever, cytopenia, and organomegaly, which do not or insufficiently respond to anti-infective treatment. Early recognition of HLH distinction from sepsis, and prompt initiation of treatment - which is fundamentally different from sepsis - are crucial for improved outcome. A promising diagnostic parameter is ferritin, which has gained sufficient specificity, but only in the context of the triad of fever, cytopenia, and organomegaly. Treatment of adult HLH patients requires immunosuppression, with strict therapeutic guidance derived from the triggering disease.


CONCLUSIONS
Because of the similar clinical presentation to that of sepsis, HLH is often not recognized, resulting in a fatal outcome. In "sepsis" patients on the ICU with deterioration despite a standard of care, HLH needs to be considered by testing for ferritin when considering differential diagnoses. The complexity of the illness requires interdisciplinary patient care with specific integration of the hematologist in the diagnostic workup and therapeutic management, because of the frequent use of chemotherapy-based immunosuppression.
Klinik für Anästhesiologie mit Schwerpunkt operative Intensivmedizin, Campus Charité Mitte und Campus Virchow-Klinikum, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
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Lachmann
Klinik für Innere Medizin II, Abteilung Hämatologie und Internistische Onkologie, Universitätsklinikum Jena, 07743, Jena, Deutschland.
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La Rosée
Klinik für Innere Medizin II, Abteilung Hämatologie und Internistische Onkologie, Universitätsklinikum Jena, 07743, Jena, Deutschland.
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Schenk
Zentrum für klinische Studien, Universitätsklinikum Jena, 07743, Jena, Deutschland.
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Brunkhorst
Klinik für Anästhesiologie mit Schwerpunkt operative Intensivmedizin, Campus Charité Mitte und Campus Virchow-Klinikum, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland. claudia.spies@charite.de.
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Spies
D003422:Critical Care; D003937:Diagnosis, Differential; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D016896:Treatment Outcome
Diagnosis; Hemophagocytic lymphohistiocytosis (HLH); Intensive care; Sepsis; Therapy