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. This means that to be affected, a person must have a change mutation in both copies of the responsible gene in each cell. The primary genetic form, caused by mutations affecting lymphocyte cytotoxicity and immune regulation, is most common in children, whereas the secondary acquired form is most frequent in adults. Hlh appears to affect all ages, although the hereditary and sporadic cases are reported primarily in children. 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. Depending on the etiology, hlh can be divided into genetic i. 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. Hemophagocytic lymphohistiocytosis hlh is a disorder charecterised by immune dysregulation. Hemophagocytic lymphohistiocytosis associated with. Hemophagocytic lymphohistiocytosis hlh is a lifethreatening hyperinflammatory syndrome and not an independent disease.
Hemophagocytic lymphohistiocytosis hemophagocytic syndromes hemophagocytic lymphohistiocytosis hlh falls into two categories. If you have problems viewing pdf files, download the latest version of adobe reader. Hemophagocytic syndromes hpss are rare, lifethreatening conditions characterized by. A free powerpoint ppt presentation displayed as a flash slide show on. Hemophagocytic lymphohistiocytosis with immunotherapy. Hemophagocytic lymphohistiocytosis hlh is a hyperinflammatory syndrome with high mortality even with appropriate treatment. Pdf hemophagocytic syndromes an update researchgate. Ppt hemophagocytic powerpoint presentation free to. The hlh disorders may be primary inheritedfamilial or secondary such as in response to specific types of infections infectionassociated hemophagocytic syndrome. Prompt initiation of treatment for hlh is essential for the survival of affected patients.
Hlh may be diagnosed in association with malignant, genetic, or autoimmune. Familial hlh is inherited in an autosomal recessive manner. Hemophagocytic syndromes and infection volume 6, number. Hemophagocytic lymphohistiocytosis hlh is a rare but life threatening hyperinflammatory hypercytokinemia syndrome. For language access assistance, contact the ncats public information officer. Malignancyassociated hlh develops in patients with hematopoietic. Hemophagocytic lymphohistiocytosis is a lifethreatening disorder characterized by unbridled activation of.
Familial hlh is caused by autosomalrecessive inheritance of gene mutations that cripple lymphocyte cytotoxicity. Ppt hemophagocytic syndromes powerpoint presentation. Clinical features clinical criteria for the diagnosis of hlh, proposed by the histiocyte society 2, include clinical, laboratory, and histopathologic features table. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. In 10 patients the diagnosis was fhlh, in 3 patients gs and in 5 patients chs. When t cells and macrophages do not talk the hemophagocytic syndromes. Arceci, in lanzkowskys manual of pediatric hematology and oncology sixth edition, 2016. Hemophagocytic syndromes are found in all age groups. Hlh occurs both in children and adults, and can be triggered by various inherited as well as acquired factors. Hemophagocytic syndromes hemophagocytic lymphohistiocytosis, hlh represent a severe. It is a lifethreatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated.
Infection and malignancyassociated hemophagocytic syndromes. It is sometimes difficult to establish the diagnosis of hemophagocytic lymphohistiocytosis hlh, and the combination of the physical symptoms and certain laboratory tests is required. Hemophagocytic syndromes hemophagocytic lymphohistiocytosis, hlh represent a severe hyperinflammatory condition with the cardinal symptoms prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Recommendations for the management of hemophagocytic. Hemophagocytic lymphohistiocytosis hlh has become more widely recognized in adults, with all ages affected. Although ebv is the most common cause of infectionassociated hlh, recognition that at least some of the deaths associated with avian. Unlike other iraes, hlh triggered by immune checkpoint blockade is not well described. In general, hlh is a syndrome of pathologic immune activation with clinical manifestations of extreme inflammation. Hlh2004 diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Hemophagocytic syndromes hpss including hemophagocytic lymphohistiocytosis hlh in adults. Patients often suffer from recurrent fever, cytopenia, liver dysfunction, and a sepsislike syndrome that may rapidly progress to terminal multiple organ failure.
Analysis of the genetic and molecular pathophysiology of these syndromes have improved the. Analysis of the genetic and molecular pathophysiology of these syndromes have improved the understanding of the crosstalk. Hemophagocytic lymphohistiocytosis hlh is a disorder characterized by systemic inflammation. Hemophagocytic syndromes maggie davis hovda morning report 10302009 simple schematic showing that when nk and ctls can t effect their functions, the target. Patients with early relapse of primary hemophagocytic. Hemophagocytic syndrome an overview sciencedirect topics. Hemophagocytic syndromes in adult intensive care units. Haemophagocytic syndromes haemophagocytic lymphohistiocytosis have a wide range of causes, symptoms, and outcomes, but all lead to a hyperinflammatory response and organ damagemainly reported in paediatric patients, but reports of adult presentation are increasing. Hemophagocytic lymphohistiocytosis is an imperfect name for this syndrome or group of syndromes as hemophagocytosis is often absent and lymphohistiocytosis lacks precision.
Pathophysiology and epidemiology of hemophagocytic. Hemophagocytic lymphohistiocytosis hlh is a rapidly progressive, lifethreatening syndrome of excessive immune activation. Hemophagocytic lymphohistiocytosis hlh is an overwhelming clinical syndrome associated with extreme immune activation. Hereditary and acquired hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis hlh is a lifethreatening syndrome that occurs as a complication in many clinical settings.
Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis hlh, is a heterogenic syndrome, which leads to an acute, lifethreatening inflammatory reaction. Hemophagocytic lymphohistiocytosis hlh, or haemophagocytic syndrome is a lifethreatening disease with a reported mortality of over 50% 3, belonging. Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis hlh, is a heterogenic syndrome, which leads to an acute. Hemophagocytic lymphohistiocytosis hlh, a rare but potentially fatal syndrome of immune hyperactivation, may be an underrecognized immunerelated adverse event irae. Pdf hemophagocytic syndromes and infection researchgate. This condition, which shares features with sepsis and systemic inflammatory response syndrome sirs, has received increasing attention in recent years such that 85% of the 1500 or so publications on hlh have appeared in the last decade. Hemophagocytic syndromes are characterized by impaired or absent function of natural killer nk cells and cytotoxic t cells and are generally divided into two categories. The genetic forms include familial disease and hemophagocytosis related to immune deficiencies, such as xlinked. 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 syndromes associated with other infectious illnesses, including sepsis, typhoid fever, tuberculosis, and leishmaniasis, may resolve with treatment of the underlying infection, and. Discussion hemophagocytic syndromehemophagocytic lymphohistiocytosishlh it is a rare ds. Pdf hemophagocytic lymphohistiocytosis hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the. Familial hemophagocytic lymphohistiocytosis genetic and.
The treatment and prognosis of patients with hlh and the macrophage activation syndrome mas, a form of hlh in patients with. Hemophagocytic syndromes and infection, beth israel deaconess medical center, boston, massachusetts, usa. Clinical characteristics and prognostic factors of adult. Biochemical markers include elevated ferritin and triglycerides, and low fibrinogen. Hemophagocytic lympohhistiocytosis and other hemophagocytic disorders. A set of diagnostic criteria was recommended by the histiocyte society for use in the hlh2004 research protocol, and this was revised in 2007. Hemophagocytic syndrome in children and adults springerlink. If you have access to a journal via a society or association membership, please browse to your society journal, select an article to view, and follow the instructions in this box.
Access to society journal content varies across our titles. Hemophagocytic lymphohistiocytosis hlh is a severe hyperinflammatory syndrome induced by aberrantly activated macrophages and cytotoxic t cells. Hemophagocytosis is achieved mostly by monocytes, macrophages, and nitroblue. The parents of an affected person usually each carry one mutated copy of the. Between 1984 and 2006, we transplanted 18 consecutive patients with primary hemophagocytic syndromes. Hlh represents the extreme end of a severe uncontrolled hyperinflammatory reaction that can occur in many underlying conditions. Phagocytosis of blood cells and their precursors is a hallmark of hemophagocytic syndromes.
Infectionand malignancyassociated hemophagocytic syndromes. Hemophagocytic lymphohistiocytosis linkedin slideshare. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperinflammatory condition caused by a highly stimulated but ineffective immune response. 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 syndrome hps, also known as hemophagocytic lymphohistiocytosis hlh, is a potentially lifethreatening immune system. Hemophagocytic lymphohistiocytosis hlh, or haemophagocytic syndrome is a lifethreatening disease with a reported mortality of over 50% 3, belonging to the socalled cytokine storm syndromes. More than 1500 publications on this topic have appeared since 2004. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperin. Hemophagocytic syndromes, also called hemophagocytic lymphohistiocytosis hlh have experienced a steadily growing attention over the past 10 years. Characterized by benign proliferation of the mature histiocyte.
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