{"orpha":528663,"name":"Acquired angioedema with C1Inh deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired angioneurotic edema with C1 inhibitor deficiency","Acquired angioneurotic edema with C1Inh deficiency"],"definition":"A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528663/","orphanet_url":"https://www.orpha.net/en/disease/detail/528663","names":{"fr":{"name":"Angio-oedème acquis avec déficit en C1Inh","synonyms":["Angio-oedème acquis avec déficit en inhibiteur de C1","Angio-oedème bradykinique acquis avec déficit en C1Inh","Angio-oedème bradykinique acquis avec déficit en inhibiteur de C1","Oedème angioneurotique acquis avec déficit en C1Inh","Oedème angioneurotique acquis avec déficit en inhibiteur de C1"],"definition":"Angio-oedème rare caractérisé par des épisodes, pouvant engager le pronostic vital, d'oedèmes des tissus sous-cutanés et/ou muqueux sans urticaire, dû à une hyperconsommation de C1-INH (inhibiteur de C1-estérase) dans un contexte de maladie lymphoproliférative ou auto-immune. La maladie se manifeste généralement au cours de la 4<sup>e</sup> décennie de vie ou bien plus tard, sans antécédents familiaux d'angio-oedèmes. Parmi les manifestations cliniques figurent des oedèmes cutanés ne prenant pas le godet et affectant le visage, mais également les membres ou les parties génitales, des douleurs abdominales dues à l'atteinte de la muqueuse gastro-intestinale et de graves oedèmes des voies respiratoires supérieures et de la muqueuse buccale. Les examens biologiques mettent en évidence la faible activité fonctionnelle de C1-INH, ainsi que de faibles taux de C3, C4 et C1q. Les auto-anticorps anti-C1-INH sont fréquemment détectés."},"de":{"name":"Erworbenes Angioödem mit C1Inh-Mangel","synonyms":["Erworbenes angioneurotisches Ödem mit C1-Inhibitor-Mangel","Erworbenes angioneurotisches Ödem mit C1Inh-Mangel"],"definition":"Eine seltene Form eines nicht histaminvermittelten Angioödems, die gekennzeichnet ist durch lebensbedrohliche Episoden subkutaner und/oder mukosaler Ödeme ohne Urtikaria und durch eine übermäßige Einnahme von C1-Esterase-Inhibitoren (C1-INH) im Zusammenhang mit lymphoproliferativen oder Autoimmunerkrankungen verursacht wird. Die Betroffenen präsentieren sich typischerweise im vierten Lebensjahrzehnt oder später und haben keine familiäre Vorgeschichte von Angioödemen. Die klinische Manifestation umfasst nicht-litische Ödeme der Haut, hauptsächlich im Gesicht, aber auch an Extremitäten oder Genitalien, Bauchschmerzen aufgrund einer Beteiligung der gastrointestinalen Schleimhaut und schwere Ödeme der oberen Atemwege und der Mundschleimhaut. Die Laboruntersuchung zeigt eine niedrige C1-INH-Aktivität und niedrige C3-, C4- und C1q-Werte. Häufig sind Autoantikörper gegen C1-INH nachweisbar."},"es":{"name":"Angioedema adquirido con deficiencia de C1Inh","synonyms":["Edema angioneurótico adquirido con deficiencia de C1Inh","Edema angioneurótico adquirido con deficiencia de inhibidor C1"],"definition":"Es un angioedema no histamínico poco frecuente,caracterizado por episodios potencialmente mortales de edema de los tejidos subcutáneos y/o de las mucosas sin urticaria, causados por un consumo excesivo del inhibidor de la esterasa C1 (C1-INH) en el contexto de enfermedades linfoproliferativas o autoinmunes. Los pacientes suelen presentarse en la cuarta década de la vida o posteriormente sin antecedentes familiares de angioedema. Las manifestaciones clínicas incluyen edema sin fóvea de la piel que afecta predominantemente a la cara, pero también a las extremidades o los genitales, así como dolor abdominal debido a la afectación de la mucosa gastrointestinal y edema grave de las vías respiratorias superiores y de la mucosa oral. Las pruebas de laboratorio muestran una baja actividad de C1-INH y un descenso de los niveles de C3, C4 y C1q. Con frecuencia se detectan autoanticuerpos contra la C1-INH."},"it":{"name":"Angioedema acquisito con deficit di C1Inh","synonyms":["Edema angioneurotico acquisito con deficit di C1 inibitore","Edema angioneurotico acquisito con deficit di C1Inh"],"definition":"Si tratta di un angioedema non istaminico raro, caratterizzato da episodi potenzialmente letali di edema dei tessuti sottocutanei e/o delle mucose senza orticaria, causato dall'assunzione eccessiva dell'inibitore della C1 esterasi (C1-INH) nel contesto delle malattie linfoproliferative o autoimmuni. Di solito la malattia esordisce nella quarta decade di vita, o successivamente, in assenza di un'anamnesi familiare positiva per l'angioedema. I segni clinici comprendono l'edema della cute senza formazione di fossette che interessa prevalentemente il viso, ma anche gli arti o i genitali, il dolore addominale secondario al coinvolgimento della mucosa gastrointestinale, e l'edema grave delle vie aeree superiori e della mucosa orale. Gli esami di laboratorio evidenziano una ridotta attività di C1-INH e livelli bassi di C3, C4 e C1q. Spesso sono presenti autoanticorpi diretti contro C1-INH."},"nl":{"name":"Verworven angio-oedeem met C1Inh-deficiëntie","synonyms":["Verworven angioneurotisch oedeem met C1-inhibitor-deficiëntie","Verworven angioneurotisch oedeem met C1Inh-deficiëntie"],"definition":"Een zeldzaam niet-histamine-geïnduceerd angio-oedeem, gekenmerkt door potentieel levensbedreigende episodes van oedeem van subcutane en/of mucosale weefsels zonder urticaria, veroorzaakt door overmatige consumptie van C1-esteraseremmer (C1-INH) in de context van lymfoproliferatieve aandoeningen of auto-immuunziekten. Patiënten presenteren zich doorgaans in het vierde levensdecennium of later, en zonder een familiegeschiedenis van angio-oedeem. Klinische manifestaties zijn onder meer wegdrukbaar oedeem van huid, vooral van het gelaat, maar ook van ledematen of geslachtsorganen, alsook abdominale pijn door betrokkenheid van gastro-intestinale mucosa, en ernstig oedeem van bovenste luchtwegen en mondslijmvlies. Laboratoriumonderzoek toont lage activiteit van C1-INH en lage gehaltes van C3, C4, en C1q. Vaak kunnen auto-antilichamen tegen C1-INH gedetecteerd worden."},"pt":{"name":"Angioedema adquirido com deficiência C1Inh"},"pl":{"name":"Nabyty obrzęk naczynioruchowy z niedoborem C1Inh","synonyms":["Nabyty obrzęk angioneurotyczny z niedoborem C1Inh","Nabyty obrzęk angioneurotyczny z niedoborem inhibitora C1"]},"cs":{"name":"Získaný angioedém s deficitem C1Inh","synonyms":["Získaný angioneurotický edém s deficitem C1Inh","Získaný angioneurotický edém s deficitem inhibitoru C1"]},"uk":{"name":"Набутий ангіоневротичний набряк з дефіцитом C1Inh","synonyms":["Набутий ангіоневротичний набряк з дефіцитом С1-інгібітора","Набутий ангіоневротичний набряк з дефіцитом C1Inh"],"definition":"A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable."},"zh":{"name":"获得性血管水肿伴C1Inh缺乏","synonyms":["获得性血管神经性水肿伴C1抑制剂缺乏"]},"tr":{"name":"C1Inh eksikliği ile seyreden edinsel anjiyoödem","synonyms":["C1Inh eksikliği ile seyreden edinsel anjiyonörotik ödem","C1 inhibitör eksikliği ile seyreden edinsel anjiyonörotik ödem"]}},"xrefs":[{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.15","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1078767412"},{"source":"MONDO","code":"0033948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":91385,"name":"Acquired angioedema","classifications":[195]}],"children":[{"orpha":100056,"name":"Acquired angioedema type 1","type":"Clinical subtype"},{"orpha":100055,"name":"Acquired angioedema type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}