{"orpha":330012,"name":"High altitude pulmonary edema","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HAPE"],"definition":"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330012/","orphanet_url":"https://www.orpha.net/en/disease/detail/330012","names":{"fr":{"name":"Oedème pulmonaire de haute altitude","definition":"Maladie pulmonaire rare caractérisée par un oedème pulmonaire non cardiogénique survenant chez des personnes par ailleurs en bonne santé dans les jours suivant une ascension à plus de 2500 - 3000 m d'altitude. Les premiers symptômes, à savoir, une dyspnée d'effort, une toux non productive, une oppression thoracique et une baisse de performance à l'effort, sont suivis d'une dyspnée de repos et éventuellement d'une orthopnée, et, dans les cas avancés, d'un gargouillement dans la poitrine et d'expectorations mousseuses rosées. Les signes cliniques sont une cyanose, une tachypnée, une tachycardie, des crépitements ou une respiration sifflante, et une hausse de la température corporelle (ne dépassant généralement pas 38,5 °C). On peut également observer des signes d'oedème cérébral de haute altitude concomitant. Les radiographies du thorax montrent typiquement des opacités parcellaires prédominant dans le lobe moyen du poumon droit."},"de":{"name":"Höhenlungenödem","synonyms":["HAPE"],"definition":"Eine seltene Lungenerkrankung, die durch ein nicht kardiogenes Lungenödem gekennzeichnet ist, das bei ansonsten gesunden Personen innerhalb weniger Tage nach einem Aufstieg über 2500-3000 m auftritt. Zu den frühen Symptomen gehören Dyspnoe bei Anstrengung, unproduktiver Husten, Engegefühl in der Brust und verminderte körperliche Leistungsfähigkeit, gefolgt von Dyspnoe in Ruhe und möglicherweise Orthopnoe sowie Gurgeln in der Brust und rosafarbener schaumiger Auswurf in fortgeschrittenen Fällen. Klinische Anzeichen sind Zyanose, Tachypnoe, Tachykardie, Knistern oder Keuchen und erhöhte Körpertemperatur (im Allgemeinen nicht über 38,5 °C). Anzeichen eines begleitenden Höhenhirnödems können ebenfalls beobachtet werden. Röntgenaufnahmen des Brustkorbs zeigen typischerweise fleckige Trübungen, vorwiegend im rechten Mittellappen."},"es":{"name":"Edema pulmonar de gran altitud","synonyms":["EPGA"],"definition":"Es una enfermedad pulmonar poco frecuente caracterizada por edema pulmonar no cardiogénico que se produce en personas por lo demás sanas a los pocos días de un ascenso superior a 2.500-3.000 m de altitud. Los primeros síntomas son disnea de esfuerzo, tos no productiva, opresión torácica y disminución del rendimiento en el ejercicio, seguidos de disnea en reposo y posiblemente ortopnea, así como gorgoteo torácico y esputo espumoso de color rosado en los casos avanzados. Los signos clínicos son cianosis, taquipnea, taquicardia, crepitaciones o sibilancias y temperatura corporal elevada (generalmente no superior a 38,5°C). También pueden observarse signos concomitantes de edema cerebral de gran altura. Las radiografías torácicas suelen mostrar opacidades parcheadas predominantemente en el hemitórax central derecho."},"it":{"name":"Edema polmonare da elevata altitudine","synonyms":["HAPE"],"definition":"Si tratta di una pneumopatia rara, caratterizzata da edema polmonare non cardiogeno che si verifica in soggetti sani entro alcuni giorni da un'ascesa ad un'altitudine superiore ai 2500-3000 m. I sintomi d'esordio comprendono la dispnea da sforzo, la tosse non produttiva, l'oppressione toracica e la riduzione delle prestazioni sotto sforzo, seguiti da dispnea a riposo e ortopnea, gorgoglio toracico e, negli stadi più avanzati, espettorato rosa e schiumoso. I segni clinici comprendono la cianosi, la tachipnea, la tachicardia, i crepitii o l'affanno, e la temperatura corporea elevata (che in genere non supera i 38,5°C). Può associarsi all'edema cerebrale da elevata altitudine. Di solito le radiografie del torace evidenziano opacità a chiazze, per lo più a livello del lobo medio destro."},"nl":{"name":"Hoogtelongoedeem","synonyms":["HAPE","Longoedeem door hoogteziekte"],"definition":"Een zeldzame aandoening van long, gekarakteriseerd door niet-cardiogeen longoedeem dat optreedt bij voor het overige gezonde individuen binnen enkele dagen na een beklimming boven 2500-3000 meter. Vroege symptomen zijn onder meer inspanningsdyspneu, niet-productieve hoest, drukkend gevoel op de borst, en verminderde fysieke prestaties, gevolgd door dyspneu in rust en mogelijk orthopneu, alsook gorgelende geluiden in de borstkas en roze schuimig sputum in gevorderde gevallen. Klinische verschijnselen zijn cyanose, tachypneu, tachycardie, ademgeruis of piepende ademhaling, en verhoogde lichaamstemperatuur (doorgaans niet hoger dan 38,5 graden Celsius). Verschijnselen van gelijktijdig cerebraal oedeem door grote hoogte worden mogelijk ook waargenomen. Röntgenopnames van thorax tonen doorgaans fragmentarische opaciteiten, hoofdzakelijk in de rechter middelste longkwab."},"pt":{"name":"Edema pulmonar de grande altitude","synonyms":["HAPE"]},"pl":{"name":"Obrzęk płuc na dużej wysokości","synonyms":["Wysokościowy obrzęk płuc"]},"cs":{"name":"Výškový plicní edém","synonyms":["HAPE"]},"uk":{"name":"Високий набряк легенів","synonyms":["HAPE"],"definition":"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe."},"zh":{"name":"高原性肺水肿"},"tr":{"name":"Yüksek irtifa akciğer ödemi"}},"xrefs":[{"source":"ICD-10","code":"J81","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0031257","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340100","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2013[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-06","source":"15183846[PMID]_31005280[PMID]_35611432[PMID]_34106165[PMID]_36562650[PMID]_35384735[PMID]","terms":[{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030830","label":"Crackles","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031457","label":"Pulmonary opacity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032016","label":"Abnormal sputum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very rare (<4-1%)","criteria":null}]}}