{"orpha":449400,"name":"IgG4-related aortitis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449400/","orphanet_url":"https://www.orpha.net/en/disease/detail/449400","names":{"fr":{"name":"Aortite associée à IgG4","definition":"Maladie systémique auto-immune caractérisée par des infiltrats de plasmocytes et de lymphocytes IgG4-positifs dans l'adventice de l'aorte, entraînant un épaississement du tissu périvasculaire ou la formation de masses de tissus mous entourant l'aorte et ses principales branches (pouvant se compliquer par un anévrisme aortique inflammatoire), associés à des taux sériques élevés d'IgG4. La localisation de prédilection est la partie sous-rénale de l'aorte abdominale. La maladie affecte des vaisseaux sanguins de taille moyenne, et peut se manifester en même temps qu'une maladie liée aux IgG4 affectant d'autres parties de l'organisme. Les signes cliniques sont peu spécifiques, à savoir, des douleurs thoraciques ou dorsales et de la fièvre."},"de":{"name":"IgG4-assoziierte Aortitis","definition":"Eine seltene systemische Autoimmunerkrankung, die durch Infiltrate von IgG4-positiven Plasmazellen und Lymphozyten in der Adventitia der Aorta gekennzeichnet ist und zu einer Verdickung des perivaskulären Gewebes oder zur Bildung von Weichteilgewebeverdichtungen führt, die die Aorta und ihre Hauptäste umgeben (möglicherweise kompliziert durch ein entzündliches Aortenaneurysma), verbunden mit erhöhten IgG4-Serumspiegeln. Bevorzugter Ort ist der infra-renale Teil der Bauchaorta. Darüber hinaus können auch mittelgroße Blutgefäße betroffen sein, und die Erkrankung kann zusammen mit IgG4-assoziierten Erkrankungen in anderen Teilen des Körpers auftreten. Die klinischen Symptome sind unspezifisch und umfassen Brust- oder Rückenschmerzen und Fieber."},"es":{"name":"Aortitis asociada a IgG4","definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por infiltrados de células plasmáticas positivas para IgG4 y linfocitos en la capa adventicia de la aorta, lo que ocasiona un engrosamiento del tejido perivascular o en la formación de masas de partes blandas que rodean a la aorta y sus ramas principales (potencialmente complicadas por aneurisma aórtico inflamatorio), asociado con niveles elevados de IgG4 en suero. La principal localización es la porción infrarrenal de la aorta abdominal, aunque también puede afectar a los vasos sanguíneos de mediano calibre. La entidad puede estar asociada a una enfermedad relacionada con IgG4 en otras localizaciones anatómicas. Los síntomas clínicos son inespecíficos e incluyen dolor en el área pectoral o dorsal y fiebre."},"it":{"name":"Aortite correlata alle IgG4","synonyms":["Periaortite IgG4-correlata"],"definition":"Si tratta di una malattia autoimmune sistemica rara, caratterizzata da infiltrati di plasmacellule e linfociti IgG4-positivi nell'avventizia dell'aorta, con il conseguente ispessimento del tessuto perivascolare o la formazione di masse di tessuto molle attorno all'aorta e ai suoi rami principali (che può associarsi all'aneurisma infiammatorio dell'aorta), in presenza di livelli elevati di IgG4 nel siero. Si localizza per lo più nella porzione infrarenale dell'aorta addominale, ma può interessare anche i vasi ematici di medie dimensioni. La malattia può manifestarsi in concomitanza con una malattia correlata alle IgG4 in altre aree del corpo. I segni clinici sono aspecifici e comprendono il dolore al torace e alla schiena, e la febbre."},"nl":{"name":"IgG4-gerelateerde aortitis","synonyms":["IgG4-gerelateerde aortaontsteking"],"definition":"Een zeldzame systemische auto-immuunziekte, gekarakteriseerd door infiltraten van IgG4-positieve plasmacellen en lymfocyten in adventitia van aorta, wat resulteert in verdikking van perivasculair weefsel of vorming van massa's van weke delen rond aorta en grote takken ervan (potentieel gecompliceerd door inflammatoir aorta-aneurysma), geassocieerd met verhoogde IgG4-gehaltes in serum. De preferentiële locatie is het infrarenale deel van abdominale aorta. Daarnaast kunnen middelgrote bloedvaten betrokken zijn, en de aandoening kan samen voorkomen met IgG4-gerelateerde ziekte in andere delen van het lichaam. Klinische symptomen zijn aspecifiek en omvatten onder meer pijn op borst of rugpijn, en koorts."},"pt":{"name":"Aortite IgG4-relacionada"},"pl":{"name":"Zapalenie aorty związane z IgG4","synonyms":["Zapalenie okołoaortalne związane z IgG4"]},"cs":{"name":"IgG4 asociovaná aortitida","synonyms":["IgG4 asociovaná periaortitida"]},"uk":{"name":"Аортит, повязаний з IgG4","definition":"A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever."},"zh":{"name":"IgG4相关主动脉炎","definition":"一种罕见的全身性自身免疫性疾病，特征在于主动脉外膜中IgG4阳性浆细胞和淋巴细胞浸润，导致血管周围组织增厚或主动脉及其主要分支周围的软组织肿块形成（可能并发炎性主动脉瘤） ，与血清IgG4水平升高有关。发病位置主要是腹主动脉的肾下部分。此外，可能会涉及中等大小的血管，该疾病可能与身体其他部位的IgG4相关疾病一起发生。临床症状没有特异性，包括胸部或背部疼痛，发烧。"},"tr":{"name":"IgG4-ilişkili aortit"}},"xrefs":[{"source":"ICD-10","code":"I77.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"593151236"},{"source":"MONDO","code":"0018672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":165711,"name":"Rare abdominal surgical disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":165711,"name":"Rare abdominal surgical disease","classifications":[182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21124083[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-19","source":"32234379[PMID]_29682110[PMID]_32710295[PMID]_33121641[PMID]","terms":[{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032061","label":"Hypereosinophilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012727","label":"Thoracic aortic aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430021","label":"Abnormal common carotid artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032230","label":"Cytoplasmic antineutrophil antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031252","label":"Dilated left subclavian artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null}]}}