{"orpha":36258,"name":"Buerger disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thromboangiitis obliterans"],"definition":"A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36258/","orphanet_url":"https://www.orpha.net/en/disease/detail/36258","names":{"fr":{"name":"Maladie de Buerger","synonyms":["Thromboangéite oblitérante"],"definition":"Maladie systémique rare caractérisée par une atteinte vasculaire occlusive inflammatoire, non nécrosante et non athérosclérotique avec thrombose et recanalisation, affectant les veines et les artères de petit et moyen calibre des extrémités supérieures et inférieures."},"de":{"name":"Buerger-Krankheit","synonyms":["Thrombangiitis obliterans"],"definition":"Eine seltene Systemerkrankung, die durch eine entzündliche, nicht-nekrotisierende, nicht-atherosklerotische, okklusive Gefäßerkrankung mit Thrombose und Rekanalisation gekennzeichnet ist, die kleine und mittelgroße Arterien und Venen der oberen und unteren Extremitäten betrifft."},"es":{"name":"Enfermedad de Buerger","synonyms":["Tromboangitis obliterante"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por enfermedad vascular oclusiva, inflamatoria, no necrosante, no aterosclerótica, con trombosis y recanalización que afecta a arterias y venas de pequeño y mediano tamaño de las extremidades superiores e inferiores."},"it":{"name":"Malattia di Buerger","synonyms":["Tromboangioite obliterante"],"definition":"La malattia di Buerger, nota anche come tromboangioite obliterante (TAO), è una malattia vascolare infiammatoria non necrotizzante rara, che colpisce le arterie di piccole e medie dimensioni e le vene degli arti superiori e inferiori. È caratterizzata da endoarterite e vaso-occlusione secondaria allo sviluppo di trombi occlusivi. L'insorgenza e la progressione della malattia sono associati in modo significativo all'esposizione al tabacco."},"nl":{"name":"Ziekte van Buerger","synonyms":["Thromboangiitis obliterans"],"definition":"Een zeldzame systemische aandoening, gekenmerkt door inflammatoire, niet-necrotiserende, niet-atherosclerotische, occlusieve vasculaire ziekte met trombose en rekanalisatie van kleine en middelgrote arteriën en venen van bovenste en onderste extremiteiten."},"pt":{"name":"Doença Buerger","definition":"Doença sistémica rara caracterizada por doença vascular inflamatória, não necrosante, não aterosclerótica e oclusiva, com trombose e recanalização, afetando artérias e veias de pequeno e médio calibre das extremidades superiores e inferiores."},"pl":{"name":"Choroba Buergera","synonyms":["Zakrzepowo-zatorowe zapalnie naczyń"],"definition":"Kryteria kliniczne opracowane przez Olina w 2000 r. to: wiek poniżej 45 lat; aktualna lub niedawna historia palenia tytoniu; obecność niedokrwienia dystalnego końca kończyny objawiającego się chromaniem przestankowym, bólem w spoczynku, owrzodzeniami niedokrwiennymi lub zgorzelą, udokumentowaną w nieinwazyjnym badaniu naczyń; wykluczenie chorób autoimmunologicznych, stanów nadkrzepliwości i cukrzycy; wykluczenie proksymalnego źródła zatorów za pomocą echokardiografii lub arteriografii; spójne wyniki arteriografii w klinicznie zajętych i niezajętych kończynach. USG Doppler naczyń jest użytecznym narzędziem pozwalającym na potwierdzenie zmian w tętnicach dystalnych (pod łokciem i kolanem). Tomografia komputerowa jest mniej przydatna, ponieważ zmiany naczyniowe są umiejscowione dystalnie. W przypadku zakrzepicy żył powierzchownych badanie USG Doppler pozwala wykluczyć niewydolność żylną, która jest głównym czynnikiem ryzyka zakrzepicy żył powierzchownych. Pulsoksymetria dynamiczna kończyn dolnych wykazuje niedotlenienie tkanek kontrastujące z pozornie dobrym stanem klinicznym. Biopsji naczyniowej nigdy się nie wykonuje, ponieważ jest to metoda inwazyjna, ale pozwala na wykazanie specyficznych wyników histologicznych: zapalenia naczyń krwionośnych ze świeżą bogatokomórkową skrzepliną, zawierającą liczne makrofagi i komórki wielojądrzaste."},"cs":{"name":"Buergerova choroba","synonyms":["Tromboangiitis obliterans"]},"uk":{"name":"Хвороба Бюргера","synonyms":["Облітеруючий тромбоангіїт"],"definition":"A rare systemic disease characterized by inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease with thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities."},"zh":{"name":"Buerger病","synonyms":["血栓闭塞性脉管炎"]},"tr":{"name":"Buerger hastalığı","synonyms":["Tromboangiitis obliterans"]}},"xrefs":[{"source":"OMIM","code":"211480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I73.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A44.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1000683110"},{"source":"MONDO","code":"0008889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040021","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5969","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156143,"name":"Predominantly medium-vessel vasculitis","classifications":[196,198]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-21","source":"28613608[PMID]","terms":[{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033402","label":"Digital ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004417","label":"Intermittent claudication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033505","label":"Livedo reticularis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002638","label":"Superficial thrombophlebitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025324","label":"Arterial occlusion","frequency":"Very rare (<4-1%)","criteria":null}]}}