Goran G B Banjac, Boban B B Banjac, Lidija L B Banjac
{"title":"隐性遗传蛋白C缺乏症姐妹二例:脑出血和凝血病并发症。","authors":"Goran G B Banjac, Boban B B Banjac, Lidija L B Banjac","doi":"10.1097/MBC.0000000000001365","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Protein C (PROC) deficiency is a rare hematological disorder caused by mutations in the PROC gene, leading to severe coagulopathy in homozygous cases. This report highlights the hematological challenges in managing homozygous protein C deficiency, particularly its association with intracerebral hemorrhage and thrombosis.</p><p><strong>Case report: </strong>We describe two sisters with a homozygous PROC gene mutation (c.797A>G, p.Tyr266Cys), presenting with protein C activity <10%. The older sister (born 2020) developed neonatal intracerebral hemorrhage, followed by recurrent hemorrhage and deep vein thrombosis by 2025, managed with heparin, warfarin, and rivaroxaban. The younger sister (born 2022) also experienced neonatal hemorrhage and required anticoagulant therapy with heparin and warfarin. Both developed neurological complications, including epilepsy.</p><p><strong>Conclusion: </strong>Homozygous protein C deficiency can lead to severe neonatal coagulopathy, necessitating early diagnosis and aggressive anticoagulant therapy. This case underscores the importance of multidisciplinary management and genetic screening in affected families.</p>","PeriodicalId":8992,"journal":{"name":"Blood Coagulation & Fibrinolysis","volume":" ","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Recessively inherited protein C deficiency in two sisters: intracerebral hemorrhage and coagulopathy complications.\",\"authors\":\"Goran G B Banjac, Boban B B Banjac, Lidija L B Banjac\",\"doi\":\"10.1097/MBC.0000000000001365\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Protein C (PROC) deficiency is a rare hematological disorder caused by mutations in the PROC gene, leading to severe coagulopathy in homozygous cases. This report highlights the hematological challenges in managing homozygous protein C deficiency, particularly its association with intracerebral hemorrhage and thrombosis.</p><p><strong>Case report: </strong>We describe two sisters with a homozygous PROC gene mutation (c.797A>G, p.Tyr266Cys), presenting with protein C activity <10%. The older sister (born 2020) developed neonatal intracerebral hemorrhage, followed by recurrent hemorrhage and deep vein thrombosis by 2025, managed with heparin, warfarin, and rivaroxaban. The younger sister (born 2022) also experienced neonatal hemorrhage and required anticoagulant therapy with heparin and warfarin. Both developed neurological complications, including epilepsy.</p><p><strong>Conclusion: </strong>Homozygous protein C deficiency can lead to severe neonatal coagulopathy, necessitating early diagnosis and aggressive anticoagulant therapy. This case underscores the importance of multidisciplinary management and genetic screening in affected families.</p>\",\"PeriodicalId\":8992,\"journal\":{\"name\":\"Blood Coagulation & Fibrinolysis\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Blood Coagulation & Fibrinolysis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MBC.0000000000001365\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Blood Coagulation & Fibrinolysis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MBC.0000000000001365","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Recessively inherited protein C deficiency in two sisters: intracerebral hemorrhage and coagulopathy complications.
Background: Protein C (PROC) deficiency is a rare hematological disorder caused by mutations in the PROC gene, leading to severe coagulopathy in homozygous cases. This report highlights the hematological challenges in managing homozygous protein C deficiency, particularly its association with intracerebral hemorrhage and thrombosis.
Case report: We describe two sisters with a homozygous PROC gene mutation (c.797A>G, p.Tyr266Cys), presenting with protein C activity <10%. The older sister (born 2020) developed neonatal intracerebral hemorrhage, followed by recurrent hemorrhage and deep vein thrombosis by 2025, managed with heparin, warfarin, and rivaroxaban. The younger sister (born 2022) also experienced neonatal hemorrhage and required anticoagulant therapy with heparin and warfarin. Both developed neurological complications, including epilepsy.
Conclusion: Homozygous protein C deficiency can lead to severe neonatal coagulopathy, necessitating early diagnosis and aggressive anticoagulant therapy. This case underscores the importance of multidisciplinary management and genetic screening in affected families.
期刊介绍:
Blood Coagulation & Fibrinolysis is an international fully refereed journal that features review and original research articles on all clinical, laboratory and experimental aspects of haemostasis and thrombosis. The journal is devoted to publishing significant developments worldwide in the field of blood coagulation, fibrinolysis, thrombosis, platelets and the kininogen-kinin system, as well as dealing with those aspects of blood rheology relevant to haemostasis and the effects of drugs on haemostatic components