{"orpha":457077,"name":"TAFRO syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome"],"definition":"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457077/","orphanet_url":"https://www.orpha.net/en/disease/detail/457077","names":{"fr":{"name":"Syndrome de TAFRO","synonyms":["Syndrome de thrombocytopenie-anasarque-fièvre-insuffisance rénale-organomégalie"],"definition":"Maladie systémique rare caractérisée par l'apparition d'une thrombocytopénie aiguë ou subaiguë, d'une anasarque (oedème, épanchement pleural, ascite) et d'une inflammation systémique (fièvre et/ou élévation de la protéine C-réactive). Les critères diagnostiques mineurs sont les signes de la maladie de Castleman sur la biopsie des ganglions lymphatiques, une myélofibrose réticulée et/ou augmentation du nombre de mégacaryocytes dans la moelle osseuse, une insuffisance rénale progressive et une organomégalie légère avec notamment une hépatosplénomégalie et une lymphadénopathie. La plupart des patients montrent des taux élevés de phosphatase alcaline sérique, tandis qu'une hypergammapathie polyclonale marquée est rare."},"de":{"name":"TAFRO-Syndrom","synonyms":["Thrombozytopenie-Anasarka-Fieber-Nebenniereninsuffizienz-Organomegalie-Syndrom"],"definition":"Eine seltene Systemerkrankung, die durch akute oder subakute Thrombozytopenie, Anasarka (Ödeme, Pleuraerguss, Aszites) und systemische Entzündung (Fieber und/oder erhöhtes C-reaktives Protein) gekennzeichnet ist. Weniger wichtige diagnostische Kategorien sind Castleman-ähnliche Merkmale in der Lymphknotenbiopsie, retikuläre Myelofibrose und/oder erhöhte Megakaryozytenzahl im Knochenmark, progressive Niereninsuffizienz und milde Organmegalie einschließlich Hepatosplenomegalie und Lymphadenopathie. Die meisten Patienten haben erhöhte Werte der alkalischen Phosphatase im Serum, während eine ausgeprägte polyklonale Hypergammopathie selten ist."},"es":{"name":"Síndrome TAFRO","synonyms":["Síndrome de trombocitopenia-anasarca-fiebre-insuficiencia renal-organomegalia"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por un inicio agudo o subagudo de trombocitopenia, anasarca (edema, derrame pleural, ascitis) e inflamación sistémica (fiebre y/o elevación de la proteína C reactiva). Las categorías diagnósticas menores son los rasgos similares a la enfermedad de Castleman en la biopsia de ganglio linfático, mielofibrosis de reticulina y/o aumento del número de megacariocitos en la médula ósea, insuficiencia renal progresiva y ligera organomegalia que incluye hepatoesplenomegalia y linfadenopatía. La mayoría de los pacientes muestra niveles elevados de fosfatasa alcalina sérica y, más raramente, una hipergammaglobulinemia policlonal."},"it":{"name":"Sindrome TAFRO","definition":"Si tratta di una malattia sistemica rara, caratterizzata da trombocitopenia ad esordio acuto o subacuto, anasarca (edema, versamento pleurico, ascite) e infiammazione sistemica (febbre e/o livelli elevati della proteina C-reattiva). I criteri diagnostici minori comprendono i segni clinici simili alla malattia di Castleman sulle biopsie dei linfonodi, la mielofibrosi del reticolo e/o l'aumento del numero dei megacariociti nel midollo osseo, l'insufficienza renale progressiva e una lieve organomegalia (epatosplenomegalia e linfoadenopatia). La maggior parte dei pazienti presenta livelli elevati di fosfatasi alcalina nel siero. Raramente i pazienti presentano una marcata ipergammopatia policlonale."},"nl":{"name":"TAFRO-syndroom","synonyms":["Trombocytopenie - anasarca - koorts - nierinsufficiëntie - organomegalie-syndroom"],"definition":"Een zeldzame systemische aandoening, gekarakteriseerd door acute of subacute aanvang van trombocytopenie, anasarca (oedeem, pleurale effusie, ascites), en systemische inflammatie (koorts en/of toename van C-reactief proteïne). Bijkomstige diagnostische categorieën van gering belang zijn op ziekte van Castleman gelijkende kenmerken bij biopsie van lymfeklieren, reticuline myelofibrose en/of verhoogd aantal megakaryocyten in beenmerg, progressieve nierinsufficiëntie, en milde organomegalie waaronder hepatosplenomegalie en lymfadenopathie. De meeste patiënten vertonen verhoogde gehaltes van alkalische fosfatase in serum, terwijl uitgesproken polyklonale hypergammopathie maar zelden voorkomt."},"pt":{"name":"Síndrome TAFRO","synonyms":["Síndrome de trombocitopenia-anasarca-febre-insuficiência renal-organomegalia"]},"pl":{"name":"Zespół TAFRO","synonyms":["Zespół małopłytkowości, uogólnionego obrzęku skóry i tkanki podskórnej, gorączki, niewydolności nerek i organomegalii"]},"cs":{"name":"TARFO syndrom","synonyms":["Syndrom zahrnující trombocytopenii, anasarku, horečku, renální insuficienci a organomegalii"]},"uk":{"name":"Синдром TAFRO","synonyms":["Синдром тромбоцитопенії - анасарки - гарячки - ниркової недостатності - органомегалії"],"definition":"A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare."},"zh":{"name":"TAFRO综合征","synonyms":["血小板减少症-全身水肿-发热-肾功能不全-器官肿大综合征"],"definition":"一种罕见的全身性疾病，其特点是急性或亚急性血小板减少症、全身水肿（水肿、胸腔积液、腹水）和全身炎症（发热和/或C反应蛋白升高）。轻微的诊断类别是淋巴结活检中的Castleman病样特征、网状骨髓纤维化和/或骨髓中巨核细胞数量增加、进行性肾功能不全、轻度器官肿大包括肝脾肿大和淋巴结病。多数患者表现为血清碱性磷酸酶水平升高，很少伴有明显的多克隆性高丙种球蛋白。"},"tr":{"name":"TAFRO sendromu","synonyms":["Trombositopeni-anasarca-ateş-böbrek yetmezliği-organomegali sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1505841618"},{"source":"MONDO","code":"0018702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":248347,"name":"Rare hemorrhagic disorder due to an acquired platelet anomaly","classifications":[194]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"27084250[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27084250[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-11-21","source":"27084250[PMID]_36148768[PMID]","terms":[{"hpo":"HP:0012050","label":"Anasarca","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031052","label":"Elevated vascular endothelial growth factor level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030783","label":"Increased circulating interleukin 6 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005513","label":"Increased megakaryocyte count","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011974","label":"Myelofibrosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045041","label":"Reduced circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032288","label":"Polyclonal elevation of circulating IgG","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032262","label":"Pulmonary tuberculosis","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031691","label":"Severe viral infection","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}