Hlh may be indolent or progress to a selfperpetuating, hyperinflammatory cytokine storm and multiorgan failure. Whether this represents a true increase in the occurrence of the syndrome or a reflection of ascertainment bias remains uncertain. Adult hematologists and internists have observed that the incidence of hemophagocytic lymphohistiocytosis hlh in adult patients appears to be increasing. Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells lymphocytes called t cells, natural killer cells, b cells, and macrophages histiocytes. Primary hemophagocytic lymphohistiocytosis is either familial or sporadic and is an autosomal recessive, usually fatal, disorder of early infancy.
Open, download, or view adobe acrobat files as pdf or html files in your browser. Lamotrigine and hemophagocytic lymphohistiocytosis neurology. Hemophagocytic lymphohistiocytosis hlh is a rapidly progressive, lifethreatening syndrome of excessive immune activation. A cytokine storm ensues, and a severe systemic inflammatory response syndrome, multiorgan dysfunc.
It can be primary or secondary to neoplastic, infectious or autoimmune processes. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperin. According to a large populationbased study published in sweden, it was estimated to occur in 1. Medical definition of hemophagocytic lymphohistiocytosis. For language access assistance, contact the ncats public information officer. Read pdf files right in your browser the pdf download extension. Hemophagocytic lymphohistiocytosis hlh secondary to infectious.
Jul 21, 2015 hemophagocytic lymphohistiocytosis definition, etiology, pathophysiology, primary and secondary hlh, clinical findings, investigations, diagnostic criteria, slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Download fulltext pdf hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis associated with amlm5a 3. Filipovich, md h emophagocytic lymphohistiocytosis hlh is a potentially lifethreatening disorder characterized by immune dysregulation, overwhelming immune activation, and in. The rockefeller syndrome by ferdinand lundberg goodreads. Hereditary and acquired hemophagocytic lymphohistiocytosis ling zhang, md, jun zhou, md, and lubomir sokol, md, phd background. The risk of children developing treatmentrelated aml in the hlh 2004 and hlh 94 studies was 0. Hemophagocytic lymphohistiocytosis hlh, also known as haemophagocytic lymphohistiocytosis british spelling, and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. Hemophagocytic lymphohistiocytosis hlh is a rare lifethreatening disease of severe. Familial hlh is inherited in an autosomal recessive manner. Hemophagocytic lymphohistiocytosis hlh is an aggressive and lifethreatening syndrome of excessive immune activation. Hemophagocytic lymphohistiocytosis secondary to infections.
Hemophagocytic lymphohistiocytosis linkedin slideshare. Hemophagocytic lymphohistiocytosis hlh is a lifethreatening hyperinflammatory clinical syndrome. Abstracthemophagocytic lymphohistiocytosis hlh covers a wide array of related lifethreatening. Secondary hlh or hemophagocytic syndrome hps secondary to. Hlh has multifaceted clinical presentations with often nonspecific signs and symptoms that are often found in other clinical conditions. Ppt hemophagocytic lymphohistiocytosis hlh powerpoint. Haemophagocytic lymphohistiocytosis in adult critical care. Instructions for hemophagocytic lymphohistiocytosis prehct. Excessive amounts of immune system proteins called cytokines are also produced. Hlh most commonly affects infants and young children.
Hemophagocytic lymphohistiocytosis hlh is a rare disorder of the immune system primarily affecting young. Familial hemophagocytic lymphohistiocytosis genetics home. Hemophagocytic lymphohistiocytosis hlh is not one condition but descriptive of a lifethreatening, hyperinflammatory syndrome with multiorgan involvement with a variety of triggers, both genetic and environmental. This article is from journal of blood medicine, volume 5. Abstract hemophagocytic lymphohistiocytosis hlh is a hyperinflammatory syndrome caused by defective lytic capability of cytotoxic t lymphocytes and nk cells, which results in proliferation of benign hemophagocytic histiocytes. Review of haemophagocytic lymphohistiocytosis archives.
Fatal hemophagocytic lymphohistiocytosis associated with. Hemophagocytic lymphohistiocytosis histiocytosis association. They have similar symptoms and require genetic testing to diagnose accurately. In this video, we created simple steps how to how to download and install free pdf reader. Hemophagocytic lymphohistiocytosis hlh is a hyperinflammatory syndrome caused by defective lytic capability of cytotoxic t lymphocytes and nk cells, which results in proliferation of benign hemophagocytic histiocytes. Hemophagocytic lymphohistiocytosis hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. A rare, cancerlike disorder in which both certain types of immune system cells histiocytes and lymphocytes start to proliferate and damage body tissues or organs. Hemophagocytic lymphohistiocytosis prehct data form 2039 version 1. Hemophagocytic lymphohistiocytosis masquerading as sepsis. Hemophagocytic lymphohistiocytosis hlh is a rare but lifethreatening hyperinflammatory. Hemophagocytic lymphohistiocytosis hlh is a rare disorder of the immune system primarily affecting young infants and children, although it can develop for the first time at any age.
Pdf how i treat hemophagocytic lymphohistiocytosis in. This syndrome can be caused by genetic mutations affecting cytotoxic function familial hlh or be secondary to infectious, rheumatologic, malignant, or metabolic conditions acquired hlh. Advances in pathophysiology, diagnosis, and treatment shanmuganathan chandrakasan, md, and alexandra h. This immune dysregulatory disorder is prominently associated with cytopenias and a unique combination of clinical signs and symptoms of extreme. Hereditary and acquired hemophagocytic lymphohistiocytosis. Files are available under licenses specified on their description page.
The treatment and prognosis of patients with hlh and the macrophage activation syndrome mas, a form of hlh in patients with. Haemophagocytic lymphohistiocytosis hlh describes a clinical syndrome of hyperinflammation resulting in an uncontrolled and ineffective immune response. The incidence varies based on ethnicity, particularly in populations in which consanguinity is common. It is a lifethreatening condition that can be defined as either primary or secondary hlh. Prompt initiation of treatment for hlh is essential for the survival of affected patients. Secondary hemophagocytic lymphohistiocytosis has a high mortality rate among adults despite recent advances in treatment. Hemophagocytic lymphohistiocytosis hlh is a devastating disorder of uncontrolled immune activation characterized by clinical and laboratory evidence of extreme inflammation.
Background hemophagocytic lymphohistiocytosis hlh is a lifethreatening emergency and any delay in diagnosis andor treatment is associated with high mortality. Hemophagocytic lymphohistiocytosis hlh is extremely rare in the neonatal period. Sep 11, 2017 hemophagocytic lymphohistiocytosis hlh may be inherited or acquired due to nongenetic factors. Hemophagocytic lymphohistiocytosis hlh riley childrens. Hemophagocytic lymphohistiocytosis gene sequencing panel. The incidence of neonatal hlh is not confirmed and may range from 1 in 50,000 to 150,000. Based on genetics and family history, the disease is divided into primary and secondary hlh. Oct, 2011 hemophagocytic lymphohistiocytosis hlh is a syndrome of pathologic immune activation, occurring as either a familial disorder or a sporadic condition, in association with a variety of triggers. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperinflammatory syndrome that can be familial or acquired, and is characterized by persistent fever, pancytopenia, hepatosplenomegaly, and increased serum ferritin 2. It is described as primary hlh familial hlh and secondary hlh acquired following malignancy, rheumatologic disorders, primary immune deficiencies or infection alone. It most frequently affects infants from birth to 18 months of age, but the disease is also observed in children and adults of all ages. Download free adobe acrobat reader dc software for your windows, mac os and android devices to view, print, and comment on pdf documents. Hemophagocytic lymphohistiocytosis hlh hemophagocytic lymphohistiocytosis hlh is a rare but potentially fatal condition in which certain white blood cells histiocytes and lymphocytes build up in and damage organs, including the bone marrow, liver, and spleen, and destroy other blood cells.
Hemophagocytic lymphohistiocytosis danafarberboston. Hemophagocytic lymphohistiocytosis hlh or hemophagocytic syndrome is a potentially lethal disorder due to an uncontrolled immune response to a triggering agent. Hemophagocytic lymphohistiocytosis hlh is a frequently fatal and likely underdiagnosed disease involving a final common pathway of hypercytokinemia, which can result in endorgan damage and death. Allogenic sct based on hlh 94 protocol results in cure rate of 50. If you have problems viewing pdf files, download the latest version of adobe reader. Primary, or familial, hlh is when the condition is inherited.
The term secondary hlh is used when your doctor thinks the condition may have occurred for a variety of other noninherited reasons. Haemophagocytic lymphohistiocytosis hlh is a potentially lifethreatening syndrome characterised by dysregulation of immune cells, excessive production of cytokines, extreme inflammation and tissue damage. Familial hemophagocytic lymphohistiocytosis genetic and. Hemophagocytic lymphohistiocytosis hlh is an aggressive and lifethreatening problem with the immune system. Recommendations for the management of hemophagocytic. Hemophagocytic lymphohistiocytosis wikimedia commons. Hemophagocytic lymphohistiocytosis histiocytosis association, pitman, nj. Neonatal hemophagocytic lymphohistiocytosis american.
Here we listed some of the best pdf readers for windows, which can help you to view your pdf files. Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Fever, hepatosplenomegaly, pancytopenia, lymphadenopathy, and rash often comprise the initial presentation. Acquired hlh is most frequently associated with epstein barr. Lymphohistiocytosis hemophagocytic lymphohistiocytosis. Hemophagocytosis may be related to primary or secondary syndromes and is discussed in more detail in chapter 42. Primary hemophagocytic lymphohistiocytosis is a rare, fatal childhood disorder that may be familial or sporadic. Hemophagocytic lymphohistiocytosis hlh is a disorder of widespread accumulation of lymphocytes and mature macrophages, sometimes with hemophagocytosis, primarily involving the spleen, lymph nodes, bone marrow, liver, and cerebral spinal fluid. It may develop subsequent to a number of recognised genetic mutations or in association with infection, malignancy, autoinflammatory or metabolic conditions. Familial hlh familial hemophagocytic lymphohistiocytosis type 25, chediakhigashi syndrome, griscelli syndrome type 2, hermanskypudlak syndrome type 2 develops due to a defect in lytic granule exocytosis, impairment of signaling lymphocytic activation moleculeassociated protein, which plays a key role in ctl activity e. Apr 05, 2019 hemophagocytic lymphohistiocytosis hlh is a rare but potentially fatal disease of normal but overactive histiocytes and lymphocytes that commonly appears in infancy, although it has been seen in all age groups.
Hemophagocytic lymphohistiocytosis gene sequencing panel description. Disease presentation is due to hyperinflammation due to inherited or acquired immune defects. The macrophages contain numerous phagocytized erythroid precursors consistent with the patients secondary diagnosis of hemophagocytic lymphohistiocytosis hlh. All structured data from the file and property namespaces is available under the creative commons cc0 license. Hemophagocytic lymphohistiocytosis hlh is a rare lifethreatening syndrome of hyperinflammatory responses with aberrant activation of lymphocytes and macrophages resulting in hypercytokinemia a positive feedback loop between cytokines and immune cells, with highly elevated levels of various cytokines. Hemophagocytic lymphohistiocytosis hlh is a rare condition characterized by immune dysregulation, which generally manifests as an exaggerated immune response to a trigger such as infection. Even with the published diagnostic criteria it can be difficult to make the.
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