{"orpha":90064,"name":"Acute peripheral arterial occlusion","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90064/","orphanet_url":"https://www.orpha.net/en/disease/detail/90064","names":{"fr":{"name":"Occlusion artérielle périphérique aiguë","definition":"Maladie vasculaire rare caractérisée par l'obstruction soudaine par un caillot sanguin d'une artère irriguant les membres, provoquant une ischémie aiguë des membres. Le tableau clinique est variable et dépend du temps écoulé depuis l'occlusion du vaisseau, de la présence d'une maladie vasculaire sous-jacente et du recrutement des collatérales. Les symptômes qui comprennent généralement une douleur au niveau du membre, une pâleur, une absence de pouls, une poïkilothermie, une paresthésie et une paralysie du membre peuvent apparaître en quelques heures ou en quelques jours. La maladie peut rapidement évoluer vers un infarctus et la perte du membre."},"de":{"name":"Akuter peripherer Arterienverschluss","definition":"Eine seltene Gefäßerkrankung, die durch den plötzlichen Verschluss einer Arterie, die die Gliedmaßen mit Blut versorgt, durch ein Blutgerinnsel gekennzeichnet ist und eine akute Ischämie der Gliedmaßen verursacht. Das klinische Erscheinungsbild ist variabel und hängt vom zeitlichen Verlauf des Gefäßverschlusses, dem Vorhandensein einer zugrunde liegenden Gefäßerkrankung und der Rekrutierung der Kollateralkreisläufe ab. Die Symptome können sich über einen Zeitraum von Stunden bis Tagen entwickeln und umfassen typischerweise Gliederschmerzen, Blässe, fehlenden Puls, Poikilothermie, Parästhesie und Gliederlähmung. Der Zustand kann schnell zu einem Infarkt und dem Verlust der Gliedmaßen führen."},"es":{"name":"Oclusión arterial periférica aguda","definition":"Es una afección vascular poco frecuente caracterizada por el bloqueo repentino de una arteria que suministra sangre a las extremidades por un coágulo de sangre, lo que causa isquemia aguda de las extremidades. La presentación clínica es variable y depende del curso temporal de la oclusión del vaso, de la presencia de una enfermedad vascular subyacente y del desarrollo de la circulación colateral. Los síntomas pueden manifestarse durante un período de horas a días y típicamente incluyen dolor en las extremidades, palidez, ausencia de pulso, poiquilotermia, parestesia y parálisis de las extremidades. La afección puede progresar rápidamente hasta provocar una isquemia crítica y la pérdida de la extremidad."},"it":{"name":"Occlusione arteriosa periferica acuta"},"nl":{"name":"Acute perifere arteriële occlusie","definition":"Een zeldzame vasculaire aandoening, gekenmerkt door plotse obstructie door een bloedstolsel van een arterie die de ledematen van bloed voorziet, wat leidt tot acute ischemie van ledematen. Het klinische beeld is variabel, en hangt af van het tijdsverloop van de occlusie van het bloedvat, de aanwezigheid van een onderliggende vasculaire ziekte, en de ontwikkeling van collaterale circulatie. Symptomen kunnen ontwikkelen over een periode van uren tot dagen, en bestaan doorgaans uit pijn aan ledematen, bleekheid, afwezige pulsaties, poikilothermie, paresthesie, en paralyse van ledematen. De aandoening kan snel evolueren naar infarct en verlies van ledematen."},"pt":{"name":"Oclusão arterial periférica aguda","definition":"Patologia vascular rara caracterizada pelo bloqueio súbito de uma artéria que fornece sangue aos membros por um coágulo sanguíneo, causando isquemia aguda dos membros. A apresentação clínica é variável e depende do tempo de oclusão do vaso, da presença de doença vascular subjacente e do recrutamento de circulação colateral. Os sintomas podem desenvolver-se ao longo de horas ou dias e geralmente incluem dor nos membros, palidez, pulso ausente, poiquilotermia, parestesia e paralisia dos membros. A situação pode progredir rapidamente para enfarte e perda do membro."},"pl":{"name":"Ostra obwodowa okluzja tętnicy"},"cs":{"name":"Akutní periferní arteriální okluze","synonyms":["Akutní periferní uzávěr arterie"]},"uk":{"name":"Гостра оклюзія периферичних артерій","definition":"A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb."},"zh":{"name":"急性外周动脉闭塞"},"tr":{"name":"Akut periferik arter tıkanıklığı"}},"xrefs":[{"source":"ICD-10","code":"I74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD30","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-13","source":"4593615[PMID]_26375664[PMID]_28722881[PMID]_28987435[PMID]","terms":[{"hpo":"HP:0025018","label":"Abnormal capillary physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030846","label":"Abnormality of venous physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031271","label":"Absent ankle pulse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006937","label":"Impaired distal tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null}]}}