{"orpha":90062,"name":"Acute liver failure","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acute hepatic failure","Fulminant hepatic failure"],"definition":"A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90062/","orphanet_url":"https://www.orpha.net/en/disease/detail/90062","names":{"fr":{"name":"Insuffisance hépatique aiguë","definition":"Maladie hépatique rare caractérisée par l'apparition aiguë d'un dysfonctionnement hépatique grave en l'absence d'une maladie hépatique chronique sous-jacente. Les patients manifestent des symptômes non spécifiques, tels que la jaunisse, des douleurs dans la partie supérieure droite de l'abdomen, des nausées, des vomissements, du prurit, de la fatigue et de la fièvre. La maladie peut rapidement évoluer vers une encéphalopathie hépatique, une coagulopathie et une défaillance multi-organique potentiellement létale. La biopsie du foie révèle généralement une nécrose hépatique massive."},"de":{"name":"Leberversagen, akutes","synonyms":["Leberversagen, fulminantes"],"definition":"Eine seltene Lebererkrankung, die durch eine akut einsetzende schwere Leberfunktionsstörung ohne Anzeichen einer zugrunde liegenden chronischen Lebererkrankung gekennzeichnet ist. Die Patienten präsentieren sich mit unspezifischen Symptomen wie Gelbsucht, Schmerzen im rechten Oberbauch, Übelkeit, Erbrechen, Juckreiz, Müdigkeit und Fieber. Die Erkrankung kann rasch zu hepatischer Enzephalopathie, Koagulopathie und lebensbedrohlichem Multiorganversagen fortschreiten. Die Leberbiopsie zeigt in der Regel eine massive Lebernekrose."},"es":{"name":"Insuficiencia hepática aguda","synonyms":["Fallo hepático agudo","Fallo hepático fulminante","Insuficiencia hepática fulminante"],"definition":"Es una enfermedad hepática poco frecuente, caracterizada por un inicio agudo de disfunción hepática grave sin evidencia de una enfermedad hepática crónica subyacente. Los pacientes se presentan con síntomas inespecíficos tales como ictericia, dolor abdominal superior derecho, náuseas, vómitos, prurito, cansancio y fiebre. La afección puede progresar rápidamente a encefalopatía hepática, coagulopatía y fallo multiorgánico potencialmente mortal. Por lo general, la biopsia hepática muestra una necrosis hepática masiva."},"it":{"name":"Insufficienza epatica acuta","definition":"Si tratta di un'epatopatia rara, caratterizzata da una grave disfunzione epatica ad esordio acuto, in assenza di una malattia epatica cronica preesistente. I pazienti presentano sintomi aspecifici (ittero, dolore nella parte superiore destra dell'addome, nausea, vomito, prurito, affaticamento e febbre). La malattia può progredire rapidamente verso l'encefalopatia epatica, la coagulopatia e l'insufficienza multiorgano potenzialmente letale. Di solito la biopsia del fegato evidenzia una necrosi epatica massiva."},"nl":{"name":"Acuut leverfalen","synonyms":["Acuut hepatisch falen","Fulminant hepatisch falen"],"definition":"Een zeldzame aandoening van lever, gekarakteriseerd door acute aanvang van ernstige disfunctie van lever zonder bewijs van onderliggende chronische leverziekte. Patiënten presenteren zich met aspecifieke symptomen als geelzucht, pijn in rechter bovenbuik, misselijkheid, braken, pruritus, vermoeidheid, en koorts. De aandoening kan snel evolueren naar hepatische encefalopathie, coagulopathie, en levensbedreigend multiorgaanfalen. Biopsie van lever toont doorgaans massale necrose van lever."},"pt":{"name":"Insuficiência hepática aguda"},"pl":{"name":"Ostra niewydolność wątroby","synonyms":["Piorunująca niewydolność wątroby"]},"cs":{"name":"Akutní selhání jater","synonyms":["Akutní jaterní selhání"]},"uk":{"name":"Гостра печінкова недостатність","synonyms":["Гостра печінкова недостатність","Фульмінантна печінкова недостатність"],"definition":"A rare hepatic disease characterized by acute onset of severe liver dysfunction without evidence of underlying chronic liver disease. Patients present with nonspecific symptoms like jaundice, upper right abdominal pain, nausea, vomiting, pruritus, fatigue, and fever. The condition may rapidly progress to hepatic encephalopathy, coagulopathy, and life-threatening multiorgan failure. Liver biopsy typically shows massive hepatic necrosis."},"zh":{"name":"急性肝功能衰竭","synonyms":["暴发性性肝功能衰竭"]},"tr":{"name":"Akut karaciğer yetmezliği","synonyms":["Akut karaciğer yetmezliği","Fulminan karaciğer yetmezliği"]}},"xrefs":[{"source":"ICD-10","code":"K72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB91.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019542","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":57146,"name":"Rare hepatic disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-12","source":"30266162[PMID]_30485882[PMID]_27058243[PMID]","terms":[{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001404","label":"Hepatocellular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002605","label":"Hepatic necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002614","label":"Hepatic periportal necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030977","label":"Increased factor VIII activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003225","label":"Reduced coagulation factor V activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008169","label":"Reduced factor VII activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008321","label":"Reduced factor X activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001948","label":"Alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031844","label":"Euphoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012417","label":"Hypocapnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031273","label":"Shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null}]}}