{"orpha":70591,"name":"Chronic thromboembolic pulmonary hypertension","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CTEPH"],"definition":"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 &#181;m. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70591/","orphanet_url":"https://www.orpha.net/en/disease/detail/70591","names":{"fr":{"name":"Hypertension pulmonaire thromboembolique chronique","synonyms":["HPTC"],"definition":"Complication rare de l'embolie pulmonaire aiguë, symptomatique ou non, caractérisée par une occlusion des artères pulmonaires par du tissu fibreux intravasculaire, associée à une microvasculopathie secondaire des vaisseaux de moins de 500 µm à l'origine d'une augmentation de la résistance vasculaire pulmonaire (RVP) et une insuffisance cardiaque droite progressive."},"de":{"name":"Chronische thromboembolische pulmonale Hypertonie","synonyms":["CTEPH","Hypertension, chronische thromboembolische pulmonale"],"definition":"Eine seltene Komplikation der akuten Lungenembolie (PE), ob symptomatisch oder nicht, die durch einen Verschluss der Lungenarterien durch fibrotisches intravaskuläres Material in Kombination mit einer sekundären Mikrovaskulopathie der Gefäße unter 500 &#181;m gekennzeichnet ist. Die Folge ist ein Anstieg des pulmonalen Gefäßwiderstands (PVR) und eine fortschreitende Rechtsherzinsuffizienz."},"es":{"name":"Hipertensión pulmonar tromboembólica crónica","definition":"Es una complicación poco frecuente de la embolia pulmonar (EP) aguda, sintomática o no, caracterizada por la oclusión de las arterias pulmonares con material intravascular fibrótico en combinación con una microvasculopatía secundaria de los vasos de menos de 500 &#181;m. La consecuencia es un incremento de la resistencia vascular pulmonar (RVP) y una insuficiencia cardíaca derecha progresiva."},"it":{"name":"Ipertensione polmonare tromboembolica cronica","definition":"L'ipertensione polmonare tromboembolica cronica (CTEPH) è una complicanza rara dell'embolia polmonare (EP) acuta, sintomatica o asintomatica, caratterizzata dall'occlusione delle arterie polmonari da parte di materiale fibrotico intravascolare, associata a microvasculopatia secondaria dei vasi di diametro inferiore a 500 µm. Ciò causa l'aumento della resistenza vascolare polmonare (RVP) e l'insufficienza progressiva della parte destra del cuore."},"nl":{"name":"Chronische trombo-embolische pulmonale hypertensie","synonyms":["CTEPH"],"definition":"Een zeldzame complicatie van acute longembolie (PE), al dan niet symptomatisch, gekenmerkt door occlusie van longslagaders door fibrotisch intravasculair materiaal in combinatie met een secundaire microvasculopathie van bloedvaten kleiner dan 500 micrometer. Het gevolg is een toename van pulmonale vasculaire resistentie (PVR) en progressief rechterhartfalen."},"pt":{"name":"Hipertensão pulmonar tromboembólica crónica","definition":"Complicação rara da embolia pulmonar (EP) aguda, sintomática ou não, caracterizada por oclusão das artérias pulmonares por material intravascular fibrótico em combinação com microvasculopatia secundária de vasos menores que 500 &#181;m. A consequência é um aumento da resistência vascular pulmonar (RVP) e insuficiência cardíaca direita progressiva."},"pl":{"name":"Przewlekłe zakrzepowo-zatorowe nadciśnienie płucne","synonyms":["CTEPH"]},"cs":{"name":"Chronická tromboembolická plicní hypertenze","synonyms":["CTEPH"]},"uk":{"name":"Хронічна тромбоемболічна легенева гіпертензія","synonyms":["CTEPH"],"definition":"A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 &#181;m. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure."},"zh":{"name":"慢性血栓栓塞性肺动脉高压","synonyms":["CTEPH"]},"tr":{"name":"Kronik tromboembolik pulmoner hipertansiyon","synonyms":["KTEPH"]}},"xrefs":[{"source":"OMIM","code":"612862","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I27.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BB01.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1567490107"},{"source":"MONDO","code":"0013024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2363973","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068739","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":71198,"name":"Rare pulmonary hypertension","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"EXPERT"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Europe","status":"Validated","source":"28356407[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"United States","status":"Validated","source":"28356407[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Japan","status":"Validated","source":"28356407[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-04","source":"30576568[PMID]_30768356[PMID]_31084984[PMID]_31023842[PMID]_19165231[PMID]","terms":[{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030877","label":"Reduced FEV1/FVC ratio","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012146","label":"Abnormality of von Willebrand factor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001693","label":"Cardiac shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011901","label":"Dysfibrinogenemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012417","label":"Hypocapnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012184","label":"Increased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030977","label":"Increased factor VIII activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025343","label":"Lupus anticoagulant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004831","label":"Recurrent thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null}]}}