{"title":"止血的进展(第一部分):遗传性血小板疾病的改进管理:现实还是幻想?","authors":"Werner Streif","doi":"10.1055/a-2031-7790","DOIUrl":null,"url":null,"abstract":"<p><p>Platelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as \"syndromic.\" The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection of many \"new\" platelet disorders. However, still many patients with a well-described platelet dysfunction remain undetected until severe bleeding occurs.</p>","PeriodicalId":55074,"journal":{"name":"Hamostaseologie","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Progress in Hemostasis (Part 1): Improved Management of Inherited Platelet Disorders: Reality or Illusion?\",\"authors\":\"Werner Streif\",\"doi\":\"10.1055/a-2031-7790\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Platelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as \\\"syndromic.\\\" The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection of many \\\"new\\\" platelet disorders. However, still many patients with a well-described platelet dysfunction remain undetected until severe bleeding occurs.</p>\",\"PeriodicalId\":55074,\"journal\":{\"name\":\"Hamostaseologie\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2023-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hamostaseologie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2031-7790\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hamostaseologie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2031-7790","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Progress in Hemostasis (Part 1): Improved Management of Inherited Platelet Disorders: Reality or Illusion?
Platelets are key drivers of hemostasis. Low platelet counts, dysfunction in platelet adhesion, and aggregation lead to increased bleeding tendency. Inherited platelet disorders (IPDs) form a highly heterogeneous group of rare diseases with variable bleeding tendency. IPDs may be associated with other signs and symptoms often referred to as "syndromic." The underlying genetic defect may prone patients to develop hematopoietic diseases such as leukemia. Over the last decade, accumulating knowledge in genetics has led to the detection of many "new" platelet disorders. However, still many patients with a well-described platelet dysfunction remain undetected until severe bleeding occurs.
期刊介绍:
Hämostaseologie is an interdisciplinary specialist journal on the complex topics of haemorrhages and thromboembolism and is aimed not only at haematologists, but also at a wide range of specialists from clinic and practice. The readership consequently includes both specialists for internal medicine as well as for surgical diseases.