Hemophagocytic syndromes hemophagocytic lymphohistiocytosis, hlh represent a severe. Pdf hemophagocytic syndromes an update researchgate. Access to society journal content varies across our titles. Hemophagocytic syndromes hpss including hemophagocytic lymphohistiocytosis hlh in adults. Hemophagocytic lymphohistiocytosis hlh is a disorder charecterised by immune dysregulation. Hereditary and acquired hemophagocytic lymphohistiocytosis. If you have problems viewing pdf files, download the latest version of adobe reader. The hlh disorders may be primary inheritedfamilial or secondary such as in response to specific types of infections infectionassociated hemophagocytic syndrome. Ppt hemophagocytic powerpoint presentation free to. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. Infection and malignancyassociated hemophagocytic syndromes. It is a lifethreatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated. 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. Hlh2004 diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.
Characterized by benign proliferation of the mature histiocyte. Hemophagocytic lymphohistiocytosis is a lifethreatening disorder characterized by unbridled activation of. Ppt hemophagocytic syndromes powerpoint presentation. Hemophagocytic syndromes, also called hemophagocytic lymphohistiocytosis hlh have experienced a steadily growing attention over the past 10 years. Hemophagocytic syndromes and infection, beth israel deaconess medical center, boston, massachusetts, usa. Hemophagocytic lymphohistiocytosis linkedin slideshare. In 10 patients the diagnosis was fhlh, in 3 patients gs and in 5 patients chs. Clinical features clinical criteria for the diagnosis of hlh, proposed by the histiocyte society 2, include clinical, laboratory, and histopathologic features table. Between 1984 and 2006, we transplanted 18 consecutive patients with primary hemophagocytic syndromes. 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 lymphohistiocytosis hlh is a potentially fatal hyperinflammatory condition caused by a highly stimulated but ineffective immune response. Arceci, in lanzkowskys manual of pediatric hematology and oncology sixth edition, 2016. Patients with early relapse of primary hemophagocytic. Hemophagocytosis is achieved mostly by monocytes, macrophages, and nitroblue.
Hemophagocytic lymphohistiocytosis hlh, or haemophagocytic syndrome is a lifethreatening disease with a reported mortality of over 50% 3, belonging. 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. 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. The genetic forms include familial disease and hemophagocytosis related to immune deficiencies, such as xlinked. Infectionand malignancyassociated hemophagocytic syndromes.
Hlh occurs both in children and adults, and can be triggered by various inherited as well as acquired factors. Unlike other iraes, hlh triggered by immune checkpoint blockade is not well described. Hemophagocytic lymphohistiocytosis hlh has become more widely recognized in adults, with all ages affected. Hemophagocytic lymphohistiocytosis associated with. Pdf hemophagocytic lymphohistiocytosis hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the.
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. Hemophagocytic lymphohistiocytosis hlh is a lifethreatening hyperinflammatory syndrome and not an independent disease. Familial hlh is inherited in an autosomal recessive manner. Hemophagocytic syndromes hpss are rare, lifethreatening conditions characterized by. Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis hlh, is a heterogenic syndrome, which leads to an acute, lifethreatening inflammatory reaction.
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. Prompt initiation of treatment for hlh is essential for the survival of affected patients. This means that to be affected, a person must have a change mutation in both copies of the responsible gene in each cell. Hemophagocytic lymphohistiocytosis hlh is an overwhelming clinical syndrome associated with extreme immune activation. Hemophagocytic syndromes are found in all age groups. Hemophagocytic syndrome hps, also known as hemophagocytic lymphohistiocytosis hlh, is a potentially lifethreatening immune system. Hemophagocytic lymphohistiocytosis with immunotherapy. There is uncontrolled phagocytosis of the platelet, erythrocytes, lymphocytes and their hematopoietic precursors in the bm giving rise to cytopenias. 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. 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.
Hemophagocytic syndromes and infection volume 6, number. Hemophagocytic syndromes in adult intensive care units. 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. In general, hlh is a syndrome of pathologic immune activation with clinical manifestations of extreme inflammation. 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. Pathophysiology and epidemiology of hemophagocytic. Familial hemophagocytic lymphohistiocytosis genetic and. Discussion hemophagocytic syndromehemophagocytic lymphohistiocytosishlh it is a rare ds. Depending on the etiology, hlh can be divided into genetic i. Hemophagocytic lymphohistiocytosis hemophagocytic syndromes hemophagocytic lymphohistiocytosis hlh falls into two categories.
Clinical characteristics and prognostic factors of adult. 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 a lifethreatening syndrome that occurs as a complication in many clinical settings. Hemophagocytic syndromes hpss including hemophagocytic. Hlh appears to affect all ages, although the hereditary and sporadic cases are reported primarily in children. Patients often suffer from recurrent fever, cytopenia, liver dysfunction, and a sepsislike syndrome that may rapidly progress to terminal multiple organ failure. For language access assistance, contact the ncats public information officer. 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 severe hyperinflammatory syndrome induced by aberrantly activated macrophages and cytotoxic t cells.
Hayden a1, park s1, giustini d2, lee ay1, chen ly3. Hemophagocytic syndrome in children and adults springerlink. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. 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. Hemophagocytic lympohhistiocytosis and other hemophagocytic disorders. When t cells and macrophages do not talk the hemophagocytic syndromes. Familial hlh is caused by autosomalrecessive inheritance of gene mutations that cripple lymphocyte cytotoxicity. Hemophagocytic lymphohistiocytosis hlh is a potentially fatal hyperin. Hemophagocytic lymphohistiocytosis hlh is a rare but life threatening hyperinflammatory hypercytokinemia syndrome. Malignancyassociated hlh develops in patients with hematopoietic. Analysis of the genetic and molecular pathophysiology of these syndromes have improved the.
Pdf hemophagocytic syndromes and infection researchgate. 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 hlh is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis phagocytosis by macrophages of. Hlh may be diagnosed in association with malignant, genetic, or autoimmune. The treatment and prognosis of patients with hlh and the macrophage activation syndrome mas, a form of hlh in patients with. Biochemical markers include elevated ferritin and triglycerides, and low fibrinogen. Hemophagocytic lymphohistiocytosis is an imperfect name for this syndrome or group of syndromes as hemophagocytosis is often absent and lymphohistiocytosis lacks precision. Hemophagocytic lymphohistiocytosis hlh is a hyperinflammatory syndrome with high mortality even with appropriate treatment. Hemophagocytic lymphohistiocytosis hlh is a rapidly progressive, lifethreatening syndrome of excessive immune activation. Phagocytosis of blood cells and their precursors is a hallmark of hemophagocytic syndromes. Hemophagocytic lymphohistiocytosis hlh, a rare but potentially fatal syndrome of immune hyperactivation, may be an underrecognized immunerelated adverse event irae. A free powerpoint ppt presentation displayed as a flash slide show on.