{"orpha":692271,"name":"Cerebral proliferative angiopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPA","Diffuse nidus arteriovenous malformation","Holohemispheric giant cerebral arteriovenous malformation","Proliferative angiopathy"],"definition":"A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-692271/","orphanet_url":"https://www.orpha.net/en/disease/detail/692271","names":{"fr":{"name":"Angiopathie proliférative cérébrale","synonyms":["APC"],"definition":"Malformation artérioveineuse rare caractérisée par des convulsions, des céphalées invalidantes et des symptômes de type accident vasculaire cérébral avec déficits neurologiques progressifs dus à une réponse proliférative à une ischémie parenchymateuse chronique. Le parenchyme cérébral normal est entrecoupé de malformations vasculaires. Les manifestations hémorragiques sont rares, cependant, lorsqu'elles sont présentes, le risque de récidive est plus élevé chez ces patients par rapport aux patients atteints d'une malformation artérioveineuse cérébrale classique."},"de":{"name":"Zerebrale proliferative Angiopathie","synonyms":["CPA","Diffuse arteriovenöse Fehlbildung des Nidus","Holohemisphärische zerebrale arteriovenöse Fehlbildung","Proliferative Angiopathie"],"definition":"Eine seltene arteriovenöse Fehlbildung, die durch Krampfanfälle, beeinträchtigende Kopfschmerzen und schlaganfallähnliche Symptome mit fortschreitenden neurologischen Ausfällen aufgrund einer proliferativen Reaktion auf chronische Parenchymischämie gekennzeichnet ist. Normales Hirnparenchym findet sich überall in der vaskulären Fehlbildung verstreut. Hämorrhagische Manifestationen sind selten; wenn sie jedoch auftreten, ist das Risiko eines Rezidivs bei diesen Patienten höher als bei Patienten mit klassischer zerebraler arteriovenöser Fehlbildung."},"es":{"name":"Angiopatía proliferativa cerebral","synonyms":["APC","Angiopatía proliferativa","Malformación arteriovenosa cerebral holohemisférica gigante","Malformación arteriovenosa del nido difuso"],"definition":"Es una malformación arteriovenosa poco frecuente caracterizada por crisis epilépticas, cefaleas incapacitantes y síntomas similares a un ictus, con déficits neurológicos progresivos debido a una respuesta proliferativa a la isquemia parenquimatosa crónica. El parénquima cerebral normal se encuentra disperso por toda la malformación vascular. Las presentaciones hemorrágicas son poco frecuentes; sin embargo, cuando se presentan, el riesgo de recurrencia es mayor que en pacientes con malformación arteriovenosa cerebral clásica."},"it":{"name":"Angiopatia proliferativa cerebrale","synonyms":["Malformazione arterovenosa cerebrale gigante oloemisferica","Angiopatia proliferativa","CPA","Malformazione arterovenosa diffusa a nido"]},"nl":{"name":"Cerebrale proliferatieve angiopathie","synonyms":["Arterioveneuze malformatie met diffuse nidus","CPA","Holohemisferische grote cerebrale arterioveneuze malformatie","Proliferatieve angiopathie"],"definition":"Een zeldzame arterioveneuze malformatie, gekenmerkt door insulten, invaliderende hoofdpijn, en beroerte-achtige symptomen met progressieve neurologische functiestoornissen door een proliferatieve respons op chronische parenchymale ischemie. Normaal hersenparenchym is verspreid doorheen de vasculaire malformatie. Een ziektebeeld met hemorragie komt niet vaak voor; indien wel aanwezig is het herhalingsrisico voor de patiënten hoger dan bij diegenen met klassieke cerebrale arterioveneuze malformatie."},"pt":{"name":"Angiopatia cerebral proliferativa","synonyms":["Angiopatia proliferativa","CPA","Malformação arteriovenosa cerebral gigante holohemisférica","Malformação arteriovenosa nidus difuso"]},"pl":{"name":"Angiopatia proliferacyjna mózgu","synonyms":["CPA","Diffuse nidus arteriovenous malformation","Holohemispheric giant cerebral arteriovenous malformation","Proliferative angiopathy"]},"cs":{"name":"Cerebrální proliferativní angiopatie","synonyms":["CPA","Diffuse nidus arteriovenous malformation","Holohemispheric giant cerebral arteriovenous malformation","Proliferative angiopathy"]}},"xrefs":[{"source":"ICD-10","code":"Q28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.40","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166487,"name":"Cerebral diseases of vascular origin with epilepsy","classifications":[181]},{"orpha":715750,"name":"Intracranial fast-flow vascular malformation","classifications":[147,181,198]},{"orpha":98022,"name":"Rare headache","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Worldwide","status":"Validated","source":"11571210[PMID]_ORPHANET"}],"phenotypes":null}