{"orpha":158032,"name":"Hemophagocytic syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["HLH","Hemophagocytic lymphohistiocytosis"],"definition":"Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158032/","orphanet_url":"https://www.orpha.net/en/disease/detail/158032","names":{"fr":{"name":"Syndrome hémophagocytaire","synonyms":["HLH","Lymphohistiocytose hémophagocytaire","Lymphohistiocytose hémophagocytique"],"definition":"Maladie immunologique rare et potentiellement létale caractérisée par une tempête cytokinique et une inflammation excessive entraînant fièvre, hépatosplénomégalie, cytopénie, hypertriglycéridémie, hyperferritinémie et hémophagocytose dans la moelle osseuse, le foie, la rate ou les ganglions lymphatiques. Elle peut être due à une anomalie génétique (lymphohistiocytose hémophagocytaire primaire) ou secondaire à des tumeurs malignes, à des infections, le plus souvent par des virus tels que le virus d'Epstein-Barr ou le cytomégalovirus, au virus de l'immunodéficience humaine ou à des maladies auto-immunes telles que le lupus érythémateux disséminé ou la maladie de Still de l'adulte (lymphohistiocytose hémophagocytaire secondaire)."},"de":{"name":"Hämophagozytose-Syndrom","synonyms":["HLH","Lymphohistiozytose, hämophagozytische"]},"es":{"name":"Síndrome hemofagocítico","synonyms":["HLH","Linfohistiocitosis hemofagocítica"],"definition":"Es una enfermedad inmunológica poco frecuente y un trastorno potencialmente mortal caracterizado por la \"tormenta de citocinas\" e inflamación abrumadora que causa fiebre, hepatoesplenomegalia, citopenia, hipertrigliceridemia, hiperferritinemia y hemofagocitosis en la médula ósea, el hígado, el bazo o ganglios linfáticos. Puede ser primaria debido a un defecto genético (linfohistiocitosis hemofagocítica primaria) o secundaria a tumores malignos, a infecciones, más comúnmente víricas, como por el virus de Epstein-Barr o citomegalovirus, el virus de la inmunodeficiencia humana, o a trastornos autoinmunitarios, como lupus eritematoso sistémico o la enfermedad de Still del adulto (linfohistiocitosis hemofagocítica secundaria)."},"it":{"name":"Sindrome emofagocitica","synonyms":["HLH","Linfoistiocitosi emofagocitica"]},"nl":{"name":"Hemofagocytair syndroom","synonyms":["HLH","Hemofagocytaire lymfohistiocytose"],"definition":"Hemofagocytair syndroom (HPS) is een zeldzame immuunziekte (zie deze term) en een potentieel levensbedreigende aandoening die wordt gekarakteriseerd door een cytokinestorm en overweldigende ontsteking die leidt tot koorts, hepatosplenomegalie, cytopenie, hypertriglyceridemie, hyperferritinemie, en hemofagocytose in beenmerg, lever, milt en lymfeklieren. Het kan veroorzaakt worden door een genetisch defect (primaire hemofagocytaire lymfohistiocytose; zie deze term), of secundair zijn aan andere aandoeningen, aan infecties, doorgaans met virussen zoals Epstein-Barrvirus, cytomegalovirus en humaan immunodeficiëntievirus, of aan auto-immuunziekten zoals systemische lupus erythematosus of de ziekte van Still met aanvang op volwassen leeftijd (secundaire hemofagocytaire lymfohistiocytose; zie deze termen)."},"pt":{"name":"Síndrome hemofagocítico"},"pl":{"name":"Zespół hemofagocytarny","synonyms":["HLH","Limfohistiocytoza hemofagocytarna"]},"cs":{"name":"Hemofagocytický syndrom","synonyms":["HLH","Hemofagocytická lymfohistiocytóza"]},"uk":{"name":"Гемофагоцитарний синдром","synonyms":["Гемофагоцитарний лімфогістіоцитоз","HLH"],"definition":"Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes)."},"zh":{"name":"噬血细胞综合征","synonyms":["噬血细胞性淋巴组织细胞增多症"],"definition":"噬血细胞综合征(HPS)是一种罕见的免疫性疾病（见该词条）也是一种潜在危及生命的疾病，其特征是细胞因子风暴和无法抵抗的炎症，引起发热、肝脾肿大、血细胞减少、高甘油三酯血症、高铁蛋白血症以及骨髓、肝脏、脾脏或淋巴结中的嗜血细胞现象。它可能是由遗传缺陷引起的原发性(原发性噬血细胞性淋巴组织细胞增生症；见该词条)，也可能继发于恶性肿瘤，感染(最常见的病毒感染如Epstein-Barr病毒，巨细胞病毒，或人类免疫缺陷病毒感染)和自身免疫性疾病，如系统性红斑狼疮或成人起病的斯蒂尔病(继发性嗜血细胞性淋巴组织细胞增多症)(见该类词条)。"},"tr":{"name":"Hemofagositik sendrom","synonyms":["HLH","Hemofagositik lenfohistiyositoz"]}},"xrefs":[{"source":"ICD-11","code":"4A01.23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1523519942"},{"source":"MONDO","code":"0015540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":98004,"name":"Rare immune disease","classifications":[195]}],"children":[{"orpha":158038,"name":"Primary hemophagocytic lymphohistiocytosis","type":"Clinical group"},{"orpha":158041,"name":"Secondary hemophagocytic lymphohistiocytosis","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":0.198,"area":"United Kingdom","status":"Validated","source":"34875131[PMID]"}],"phenotypes":null}