{"orpha":158061,"name":"Macrophage activation syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158061/","orphanet_url":"https://www.orpha.net/en/disease/detail/158061","names":{"fr":{"name":"Syndrome d'activation macrophagique","definition":"Syndrome hémophagocytaire rare caractérisé par une activation et une prolifération excessive des macrophages et des lymphocytes T, survenant dans le contexte de diverses maladies, notamment des infections, des néoplasmes, des troubles rhumatismaux, et entraînant l'apparition soudaine d'une fièvre persistante, d'une lymphadénopathie et d'une hépatosplénomégalie. Les complications sont une diminution sévère d'une ou plusieurs lignées de cellules sanguines avec coagulopathie et pancytopénie, et une altération des fonctions hépatique et rénale. L'examen de la moelle osseuse révèle de nombreux macrophages bien différenciés phagocytant activement les éléments hématopoïétiques."},"de":{"name":"Makrophagen-Aktivierungssyndrom","definition":"Ein seltenes hämophagozytisches Syndrom, das durch eine übermäßige Aktivierung und Proliferation von Makrophagen und T-Zellen gekennzeichnet ist, die im Zusammenhang mit einer Vielzahl von Krankheiten, einschließlich Infektionen, Neoplasien und rheumatischen Erkrankungen, auftreten und zu einem plötzlichen Auftreten von anhaltendem Fieber, Lymphadenopathie und Hepatosplenomegalie führen. Zu den Komplikationen gehören eine tiefgreifende Beeinträchtigung einer oder mehrerer Blutzelllinien mit Koagulopathie und Panzytopenie sowie eine eingeschränkte Leber- und Nierenfunktion. Die Untersuchung des Knochenmarks zeigt zahlreiche gut differenzierte Makrophagen, die aktiv hämatopoetische Elemente phagozytieren."},"es":{"name":"Síndrome de activación macrofágica","definition":"Es un síndrome hemofagocítico poco frecuente caracterizado por una excesiva activación y proliferación de macrófagos y células T que se produce en el contexto de una variedad de enfermedades, incluyendo infecciones, neoplasias o trastornos autoinmunes y que ocasiona la aparición de fiebre persistente, linfadenopatía y hepatoesplenomegalia. Las complicaciones incluyen disminución marcada de una o más líneas de células sanguíneas con coagulopatía y pancitopenia y alteración de la función hepatorrenal. El examen de la médula ósea revela numerosos macrófagos bien diferenciados con una intensa actividad fagocítica de elementos hematopoyéticos."},"it":{"name":"Sindrome da attivazione dei macrofagi","definition":"Si tratta di una sindrome emofagocitica rara, caratterizzata dall'iperattivazione e dall'iperproliferazione dei macrofagi e dei linfociti T che si verifica nel quadro di diverse malattie (infezioni, neoplasie e malattie reumatiche) e si associa all'insorgenza improvvisa di febbre persistente, linfoadenopatia ed epatosplenomegalia. Le complicanze comprendono la grave riduzione di una o più linee cellulari del sangue associata a coagulopatia e pancitopenia, e la compromissione della funzione epatica e renale. L'esame del midollo osseo evidenzia numerosi macrofagi ben differenziati che fagocitano attivamente gli elementi ematopoietici."},"nl":{"name":"Macrofaagactivatiesyndroom","definition":"Een zeldzaam hemofagocytair syndroom, gekarakteriseerd door excessieve activatie en proliferatie van macrofagen en T-cellen in de context van verschillende ziekten, waaronder infecties, neoplasmata en reumatische aandoeningen, met plotse aanvang van persisterende koorts, lymfadenopathie en hepatosplenomegalie tot gevolg. Complicaties zijn onder meer zeer ernstige reductie van een of meer bloedcellijnen met coagulopathie en pancytopenie, en verstoorde lever- en nierfunctie. Onderzoek van beenmerg toont talrijke goed gedifferentieerde macrofagen die actief hematopoëtische elementen fagocyteren."},"pt":{"name":"Síndrome de activação macrofágica"},"pl":{"name":"Zespół aktywacji makrofagów"},"cs":{"name":"Syndrom aktivovaných makrofágů"},"uk":{"name":"Синдром активації макрофагів","definition":"A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements."},"zh":{"name":"吞噬细胞激活综合征","definition":"一种罕见的噬血细胞综合征，其特征是发生在多种疾病情况下(包括感染、肿瘤和风湿病)的巨噬细胞和T细胞过度活化和增生，并导致持续发热、淋巴结病和肝脾肿大的突然发作。并发症包括一种或多种血细胞严重抑制，且伴有凝血病和全血细胞减少，以及肝功能和肾功能受损。骨髓检查显示大量分化良好的巨噬细胞活跃地吞噬造血因子。"},"tr":{"name":"Makrofaj aktivasyon sendromu"}},"xrefs":[{"source":"ICD-10","code":"D76.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015545","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096155","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053867","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]},{"orpha":158041,"name":"Secondary hemophagocytic lymphohistiocytosis","classifications":[195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-25","source":"31732958[PMID]_30774631[PMID]_28409239[PMID]","terms":[{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040089","label":"Abnormal natural killer cell count","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011118","label":"Abnormality of tumor necrosis factor secretion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030783","label":"Increased circulating interleukin 6 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030356","label":"Increased serum interferon-gamma level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005681","label":"Juvenile rheumatoid arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null}]}}