Hemophagocytic syndromes hpss including hemophagocytic. Infectionand malignancyassociated hemophagocytic syndromes. Hemophagocytic syndromes and infection, beth israel deaconess medical center, boston, massachusetts, usa. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. Hemophagocytic syndromes associated with other infectious illnesses, including sepsis, typhoid fever, tuberculosis, and leishmaniasis, may resolve with treatment of the underlying infection, and. It is a lifethreatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated. Hemophagocytic syndrome in children and adults springerlink. Hemophagocytic lymphohistiocytosis hlh is a disorder characterized by systemic inflammation.
Hayden a1, park s1, giustini d2, lee ay1, chen ly3. Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis hlh, is a heterogenic syndrome, which leads to an acute, lifethreatening inflammatory reaction. Hemophagocytic lymphohistiocytosis hlh is a disorder charecterised by immune dysregulation. For language access assistance, contact the ncats public information officer. Hemophagocytic lymphohistiocytosis hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis phagocytosis by macrophages of. Depending on the etiology, hlh can be divided into genetic i. 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 lymphohistiocytosis hlh is an overwhelming clinical syndrome associated with extreme immune activation.
Clinical characteristics and prognostic factors of adult. Hemophagocytic lympohhistiocytosis and other hemophagocytic disorders. Pdf hemophagocytic lymphohistiocytosis hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the. Hemophagocytic lymphohistiocytosis with immunotherapy. Biochemical markers include elevated ferritin and triglycerides, and low fibrinogen. Hemophagocytic lymphohistiocytosis linkedin slideshare. Hemophagocytic syndromes in adult intensive care units. Hemophagocytic syndromes and infection volume 6, number. Hemophagocytic lymphohistiocytosis hemophagocytic syndromes hemophagocytic lymphohistiocytosis hlh falls into two categories. 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. Unlike other iraes, hlh triggered by immune checkpoint blockade is not well described. Hemophagocytic lymphohistiocytosis associated with.
There is uncontrolled phagocytosis of the platelet, erythrocytes, lymphocytes and their hematopoietic precursors in the bm giving rise to cytopenias. Hemophagocytic lymphohistiocytosis hlh is a rapidly progressive, lifethreatening syndrome of excessive immune activation. Ppt hemophagocytic powerpoint presentation free to. This means that to be affected, a person must have a change mutation in both copies of the responsible gene in each cell. Hemophagocytic syndrome an overview sciencedirect topics. Hereditary and acquired hemophagocytic lymphohistiocytosis. Arceci, in lanzkowskys manual of pediatric hematology and oncology sixth edition, 2016. 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. Familial hlh is caused by autosomalrecessive inheritance of gene mutations that cripple lymphocyte cytotoxicity. Prompt initiation of treatment for hlh is essential for the survival of affected patients. Phagocytosis of blood cells and their precursors is a hallmark of hemophagocytic syndromes. The hlh disorders may be primary inheritedfamilial or secondary such as in response to specific types of infections infectionassociated hemophagocytic syndrome. Hemophagocytic syndromes hpss including hemophagocytic lymphohistiocytosis hlh in adults.
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 lifethreatening syndrome that occurs as a complication in many clinical settings. Hemophagocytic lymphohistiocytosis hlh, a rare but potentially fatal syndrome of immune hyperactivation, may be an underrecognized immunerelated adverse event irae. Pathophysiology and epidemiology of hemophagocytic. Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis hlh, is a heterogenic syndrome, which leads to an acute. Hemophagocytic syndromes maggie davis hovda morning report 10302009 simple schematic showing that when nk and ctls can t effect their functions, the target. Hemophagocytic lymphohistiocytosis is a lifethreatening disorder characterized by unbridled activation of. Hlh represents the extreme end of a severe uncontrolled hyperinflammatory reaction that can occur in many underlying conditions. 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. Characterized by benign proliferation of the mature histiocyte. Pdf hemophagocytic syndromes an update researchgate.
A set of diagnostic criteria was recommended by the histiocyte society for use in the hlh2004 research protocol, and this was revised in 2007. Between 1984 and 2006, we transplanted 18 consecutive patients with primary hemophagocytic syndromes. Analysis of the genetic and molecular pathophysiology of these syndromes have improved the understanding of the crosstalk. 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. Recommendations for the management of hemophagocytic. 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.
Familial hemophagocytic lymphohistiocytosis genetic and. Hemophagocytic syndromes are found in all age groups. In general, hlh is a syndrome of pathologic immune activation with clinical manifestations of extreme inflammation. 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. Although ebv is the most common cause of infectionassociated hlh, recognition that at least some of the deaths associated with avian. Hemophagocytic syndrome hps, also known as hemophagocytic lymphohistiocytosis hlh, is a potentially lifethreatening immune system. Hemophagocytic lymphohistiocytosis hlh is a lifethreatening hyperinflammatory syndrome and not an independent disease.
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. 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. 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. If you have problems viewing pdf files, download the latest version of adobe reader. Hemophagocytic lymphohistiocytosis hlh may be inherited or acquired due to nongenetic factors. 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. More than 1500 publications on this topic have appeared since 2004. Hemophagocytic syndromes hpss are rare, lifethreatening conditions characterized by. Analysis of the genetic and molecular pathophysiology of these syndromes have improved the. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperinflammatory condition caused by a highly stimulated but ineffective immune response. Hemophagocytic syndromes hemophagocytic lymphohistiocytosis, hlh represent a severe. 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.
The parents of an affected person usually each carry one mutated copy of the. Access to society journal content varies across our titles. Discussion hemophagocytic syndromehemophagocytic lymphohistiocytosishlh it is a rare ds. Infection and malignancyassociated hemophagocytic syndromes. Patients often suffer from recurrent fever, cytopenia, liver dysfunction, and a sepsislike syndrome that may rapidly progress to terminal multiple organ failure. 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. Hemophagocytic syndromes, also called hemophagocytic lymphohistiocytosis hlh have experienced a steadily growing attention over the past 10 years. Clinical features clinical criteria for the diagnosis of hlh, proposed by the histiocyte society 2, include clinical, laboratory, and histopathologic features table. Hlh may be diagnosed in association with malignant, genetic, or autoimmune. The genetic forms include familial disease and hemophagocytosis related to immune deficiencies, such as xlinked. Hemophagocytosis is achieved mostly by monocytes, macrophages, and nitroblue.
Pdf hemophagocytic syndromes and infection researchgate. Ppt hemophagocytic syndromes powerpoint presentation. Hlh appears to affect all ages, although the hereditary and sporadic cases are reported primarily in children. Familial hlh is inherited in an autosomal recessive manner. Hemophagocytic lymphohistiocytosis hlh is a hyperinflammatory syndrome with high mortality even with appropriate treatment. Hemophagocytic lymphohistiocytosis hlh is a rare but life threatening hyperinflammatory hypercytokinemia syndrome. Hemophagocytic lymphohistiocytosis hlh, or haemophagocytic syndrome is a lifethreatening disease with a reported mortality of over 50% 3, belonging. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperin. The treatment and prognosis of patients with hlh and the macrophage activation syndrome mas, a form of hlh in patients with. Hemophagocytic lymphohistiocytosis is an imperfect name for this syndrome or group of syndromes as hemophagocytosis is often absent and lymphohistiocytosis lacks precision. Hlh2004 diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.
For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. Patients with early relapse of primary hemophagocytic. Hemophagocytic lymphohistiocytosis hlh is a severe hyperinflammatory syndrome induced by aberrantly activated macrophages and cytotoxic t cells. Hemophagocytic lymphohistiocytosis hlh has become more widely recognized in adults, with all ages affected. Malignancyassociated hlh develops in patients with hematopoietic. A free powerpoint ppt presentation displayed as a flash slide show on.
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