{"orpha":244242,"name":"HELLP syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hemolysis, elevated liver enzymes, low platelets in pregnancy","Hemolysis-elevated liver enzymes-low platelets syndrome"],"definition":"A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-244242/","orphanet_url":"https://www.orpha.net/en/disease/detail/244242","names":{"fr":{"name":"Syndrome HELLP","synonyms":["Hémolyse, enzymes hépatiques élevées, thrombocytopénie pendant la grossesse"],"definition":"Maladie hémorragique rare par anomalie acquise des plaquettes caractérisée par une hémolyse, des taux élevés d'enzymes hépatiques et une thrombocytopénie chez la femme enceinte ou en période de post-partum, fréquemment associée à une pré-éclampsie sévère. Les symptômes sont variables mais comprennent généralement des douleurs abdominales au niveau de l'épigastre ou du quadrant supérieur droit, des nausées, des vomissements, une prise de poids excessive, un oedème généralisé, une hypertension, un malaise général, des douleurs à l'épaule droite, un mal de dos et/ou des céphalées. Une rupture ou une hémorragie hépatique, une insuffisance rénale et un oedème pulmonaire peuvent entraîner le décès de la mère et/ou du foetus."},"de":{"name":"HELLP-Syndrom","synonyms":["Hämolysis mit erhöhten Leberwerten und niedrigen Thrombozytenzahlen in der Schwangerschaft","Hämolysis-erhöhte Leberwerte-niedrige Thrombozytenzahlen-Syndrom"],"definition":"Das Hellp-Syndrom ist eine seltene hämorrhagische Erkrankung aufgrund einer erworbenen Thrombozyten-Anomalie. Sie betrifft schwangere oder postpartale Frauen und ist gekennzeichnet durch Hämolyse, erhöhte Leberenzyme und Thrombozytopenie. Häufig ist sie mit einer schweren Präeklampsie verbunden. Die Symptome sind unterschiedlich und umfassen typischerweise Schmerzen im rechten oberen Quadranten oder im epigastrischen Bauchbereich, Übelkeit, Erbrechen, übermäßige Gewichtszunahme, generalisiertes Ödem, Bluthochdruck, allgemeines Unwohlsein, Schmerzen in der rechten Schulter, Rückenschmerzen und/oder Kopfschmerzen. Hepatische Blutungen und Risse, Nierenversagen und Lungenödeme können zum Tod der Mutter und/oder des Föten führen."},"es":{"name":"Síndrome HELLP","synonyms":["Hemólisis, enzimas hepáticas elevadas, disminución de las plaquetas en el embarazo","Síndrome de hemólisis-enzimas hepáticas elevadas-disminución de plaquetas"],"definition":"Es un trastorno hemorrágico poco frecuente debido a una anomalía plaquetaria adquirida caracterizado por hemólisis, enzimas hepáticas elevadas y trombocitopenia que afecta a mujeres durante el perido de gestación o el posparto, y que se asocia frecuentemente a grave preeclampsia. Los síntomas son variables e incluyen típicamente dolor en el cuadrante superior derecho o dolor abdominal epigástrico, náuseas, vómitos, excesiva ganancia de peso, edema generalizado, hipertensión, malestar general, dolor en el hombro derecho, dolor de espalda y/o cefalea. La hemorragia y ruptura hepática, la insuficiencia renal y el edema pulmonar pueden provocar la muerte materna y/o fetal."},"it":{"name":"Sindrome HELLP","synonyms":["Emolisi, aumento degli enzimi epatici, diminuzione delle piastrine durante la gravidanza","Sindrome emolisi-aumento degli enzimi epatici-diminuzione delle piastrine"],"definition":"Si tratta di una malattia emorragica rara, causata da un'anomalia acquisita delle piastrine. È caratterizzata da emolisi, livelli elevati degli enzimi epatici e trombocitopenia. La malattia colpisce le femmine durante la gravidanza o nel post-partum e spesso si associa a preeclampsia grave. I sintomi sono variabili, e di solito comprendono il dolore addominale localizzato nel quadrante superiore destro o nella regione epigastrica, la nausea, il vomito, un eccessivo aumento ponderale, l'edema diffuso, l'ipertensione, il malessere generalizzato, il dolore alla spalla destra, il mal di schiena e/o la cefalea. L'emorragia e la rottura del fegato, l'insufficienza renale e l'edema polmonare possono causare la morte della madre e/o del feto."},"nl":{"name":"HELLP-syndroom","synonyms":["Hemolyse, verhoogde leverenzymen, laag gehalte aan bloedplaatjes gedurende zwangerschap","Hemolyse - verhoogde leverenzymen - laag gehalte aan bloedplaatjes-syndroom"],"definition":"Een zeldzame hemorragische stoornis die veroorzaakt wordt door een verworven anomalie van de bloedplaatjes, die gekarakteriseerd wordt door hemolyse, verhoogde leverenzymen en trombocytopenie, die vrouwen treft tijdens de zwangerschap of na de bevalling, en die vaak geassocieerd is met ernstige pre-eclampsie. De symptomen variëren, en omvatten doorgaans buikpijn in het rechter bovenste kwadrant of epigastrische buikpijn, misselijkheid, braken, excessieve gewichtstoename, gegeneraliseerd oedeem, hypertensie, algemene malaise, pijn aan de rechterschouder, rugpijn, en/of hoofdpijn. Hemorragie en ruptuur van de lever, nierfalen, en longoedeem kunnen leiden tot maternaal en/of foetaal overlijden."},"pt":{"name":"Síndrome HELLP"},"pl":{"name":"Zespół HELLP","synonyms":["Hemoliza, podniesiony poziom enzymów wątrobowych, niski poziom płytek krwi w ciąży","Zespół hemoliza-podniesiony poziom enzymów wątrobowych-niski poziom płytek krwi"]},"cs":{"name":"HELLP syndrom","synonyms":["Hemolysis-elevated liver enzymes-low platelets syndrome","Hemolysis, elevated liver enzymes, low platelets in pregnancy","Syndrom zahrnující hemolýzu, zvýšené jaterní enzymy a nízké krevní destičky","Hemolýza, zvýšené jaterní enzymy, nízká hladina krevních destiček v těhotenství"]},"uk":{"name":"HELLP-синдром","synonyms":["Гемоліз, підвищення рівня печінкових ферментів, низький рівень тромбоцитів під час вагітності","Синдром гемолізу - підвищення рівня печінкових ферментів - низького рівня тромбоцитів"],"definition":"A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death."},"zh":{"name":"HELLP综合征","synonyms":["妊娠期溶血、肝酶升高、血小板减少"],"definition":"一种罕见的出血性疾病，由获得性血小板异常引起，其特征是溶血、肝酶升高和血小板减少，影响孕妇或产后妇女，常伴有严重的子痫前期。症状多变，通常包括右上腹部或上腹部疼痛、恶心、呕吐、体重增加过多、全身水肿、高血压、全身不适、右肩疼痛、背痛和/或头痛。肝出血和破裂、肾功能衰竭和肺水肿可导致母体和/或胎儿死亡。"},"tr":{"name":"HELLP sendromu","synonyms":["Hemoliz-yükselmiş karaciğer enzimleri-düşük trombosit sendromu","Hemoliz, yüksek karaciğer enzimleri, gebelikte düşük trombosit"]}},"xrefs":[{"source":"ICD-10","code":"O14.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"JA24.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1748922908"},{"source":"MONDO","code":"0008585","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8528","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"orpha":248347,"name":"Rare hemorrhagic disorder due to an acquired platelet anomaly","classifications":[194]},{"orpha":57146,"name":"Rare hepatic disease","classifications":[183]}],"children":[],"genes":[{"symbol":"CD46","name":"CD46 molecule","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17914026[PMID]","hgnc":"6953","ensembl":"ENSG00000117335","omim":"120920","loci":["1q32.2"]},{"symbol":"CFH","name":"complement factor H","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18658028[PMID]_22594569[PMID]","hgnc":"4883","ensembl":"ENSG00000000971","omim":"134370","loci":["1q31.3"]},{"symbol":"CFI","name":"complement factor I","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"18658028[PMID]_22594569[PMID]","hgnc":"5394","ensembl":"ENSG00000205403","omim":"217030","loci":["4q25"]},{"symbol":"HELLPAR","name":"HELLP associated long non-coding RNA","gene_type":"Non-coding RNA","association":"Major susceptibility factor in","status":"Assessed","source":"23093777[PMID]","hgnc":"43984","ensembl":"ENSG00000281344","omim":"614985","loci":["12q23.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-08","source":"30801473[PMID]_27181089[PMID]_10925900[PMID]","terms":[{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008071","label":"Maternal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025547","label":"Decreased mean corpuscular hemoglobin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100601","label":"Eclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003641","label":"Hemoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011419","label":"Placental abruption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}