{"orpha":464343,"name":"Catastrophic antiphospholipid syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAPS","Catastrophic APS"],"definition":"A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464343/","orphanet_url":"https://www.orpha.net/en/disease/detail/464343","names":{"fr":{"name":"Syndrome catastrophique des antiphospholipides","synonyms":["CAPS"],"definition":"Maladie systémique auto-immune rare caractérisée par une thrombose d'apparition subite, simultanée ou intervenant en l'espace de moins d'une semaine, engageant potentiellement le pronostic vital, affectant au moins trois organes différents, en présence d'anticorps sériques antiphospholipides (anticoagulant circulant de type lupique, anticorps anticardiolipine et anticorps anti-bêta2-glycoprotéine 1), et d'une occlusion des petits vaisseaux dans au moins un organe touché, confirmée par histopathologie. La maladie touche un petit sous-groupe de patients atteints du syndrome des antiphospholipides, souvent déclenché par une infection, un traumatisme ou une intervention chirurgicale."},"de":{"name":"Katastrophales Antiphospholipidsyndrom","synonyms":["CAPS","Katastrophales APS"],"definition":"Eine seltene systemische Autoimmunerkrankung, die durch das akute Auftreten von lebensbedrohlichen Thrombosen in drei oder mehr Organen entweder gleichzeitig oder innerhalb von weniger als einer Woche gekennzeichnet ist, bei Vorliegen von Antiphospholipid-Antikörpern im Serum (z. B. Lupus-Antikoagulanzien, Anticardiolipin-Antikörper und Anti-Beta2-Glykoprotein-1-Antikörper) und mit histopathologischer Bestätigung eines Verschlusses kleiner Gefäße in mindestens einem betroffenen Organ. Die Erkrankung wird häufig durch Infektionen, Traumata oder Operationen ausgelöst."},"es":{"name":"Síndrome antifosfolipídico catastrófico","synonyms":["SAF catastrófico","SAFC"],"definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por la aparición aguda de trombosis potencialmente mortal en tres o más órganos, ya sea simultáneamente o en menos de una semana, en presencia de anticuerpos séricos antifosfolipídicos (como el anticoagulante lúpico, anticuerpos anticardiolipina y anticuerpos anti-beta2-glicoproteína 1), y con confirmación histopatológica de oclusión de pequeños vasos en al menos un órgano afectado. Con frecuencia, la afección es desencadenada por una infección, un traumatismo o una intervención quirúrgica."},"it":{"name":"Sindrome catastrofica da antifosfolipidi","definition":"Si tratta di una malattia autoimmune sistemica rara, caratterizzata da trombosi potenzialmente letali ad esordio acuto che interessano tre o più organi simultaneamente o in meno di una settimana, in presenza di anticorpi antifosfolipidi nel siero (lupus anticoagulante, anticorpi anticardiolipina e anti-beta2-glicoproteina 1), e la conferma istopatologica dell'occlusione dei piccoli vasi in almeno uno degli organi coinvolti. La malattia colpisce un ristretto sottogruppo di pazienti affetti dalla sindrome da antifosfolipidi, ed è spesso scatenata dalle infezioni, dai traumi o dagli interventi chirurgici."},"nl":{"name":"Catastrofaal antifosfolipidensyndroom","synonyms":["CAPS","Catastrofaal APS"],"definition":"Een zeldzame systemische auto-immuunziekte, gekenmerkt door acute aanvang van levensbedreigende trombose in drie of meer organen, hetzij simultaan of binnen een week, in aanwezigheid van antifosfolipide-antilichamen in serum (zoals lupus anticoagulans, anticardiolipine-antilichamen, en anti-bèta2-glycoproteïne 1-antilichamen), en met histopathologische bevestiging van occlusie van kleine bloedvaten in minstens één aangetast orgaan. De aandoening wordt vaak verergerd door infectie, trauma of chirurgie."},"pt":{"name":"Síndrome antifosfolípido catastrófico","definition":"Doença autoimune sistémica rara caracterizada por início agudo de tromboses potencialmente fatais em três ou mais órgãos, simultaneamente ou em menos de uma semana, na presença de anticorpos antifosfolipídicos séricos (como anticoagulante lúpico, anticorpos anticardiolipina e anticorpos anti&#8208;beta&#8208;glicoproteína 1) e com confirmação histopatológica de oclusão de pequenos vasos em pelo menos um órgão afetado. A situação geralmente é precipitada por infeção, trauma ou cirurgia."},"pl":{"name":"Katastrofalny zespół antyfosfolipidowy","synonyms":["CAPS","Katasrofalny APS"]},"cs":{"name":"Katastrofický antifosfolipidový syndrom","synonyms":["CAPS","Catastrophic APS","Katastrofický APS"]},"uk":{"name":"Катастрофічний антифосфоліпідний синдром","synonyms":["CAPS","Катастрофічний APS"],"definition":"A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition is often precipitated by infection, trauma, or surgery."},"zh":{"name":"灾难相关抗磷脂综合征","synonyms":["灾难相关APS"]},"tr":{"name":"Katastrofik antifosfolipid sendromu","synonyms":["CAPS","Katastropik APS"]}},"xrefs":[{"source":"ICD-10","code":"D68.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A45","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3662487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9820","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":248365,"name":"Rare thrombotic disorder due to an acquired coagulation factors defect","classifications":[194]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27375916[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-27","source":"28262233[PMID]_30205764[PMID]_28488841[PMID]","terms":[{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011112","label":"Abnormality of serum cytokine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032376","label":"Anti-beta 2 glycoprotein I antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020136","label":"Anticardiolipin IgG antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004844","label":"Coombs-positive hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002641","label":"Peripheral thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031653","label":"Abnormal heart valve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034101","label":"Anti-annexin-V antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034097","label":"Anti-phosphatidyl choline antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034084","label":"Anti-phosphatidyl ethanolamine antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034098","label":"Anti-phosphatidyl glycerol antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034099","label":"Anti-phosphatidyl inositol antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034100","label":"Anti-phosphatidyl serine antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020137","label":"Anticardiolipin IgM antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025324","label":"Arterial occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025343","label":"Lupus anticoagulant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002638","label":"Superficial thrombophlebitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000042","label":"Abnormal jugular vein morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006846","label":"Acute encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100601","label":"Eclampsia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025326","label":"Retinal arterial occlusion","frequency":"Very rare (<4-1%)","criteria":null}]}}