Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology
Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology
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DOI：
10.1053/beha.2001.0139
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发表时间：
2001-06-01
影响因子：
2.1
通讯作者：
Eikenboom, JCJ
中科院分区：
文献类型：
--
作者：
Eikenboom, JCJ
3 型冯维勒布兰德病是这种疾病最严重的形式。患者有中度至重度出血倾向。这些患者的血浆血管性血友病因子水平非常低或检测不到。尽管罕见，但 3 型冯·维勒布兰德病因其严重的临床表现、需要替代治疗以及输注浓缩血浆后出现同种抗体的风险而引起人们的广泛关注。 3型疾病的遗传通常是常染色体隐性遗传。父母通常是近亲结婚，但也存在复合杂合遗传。最近对 3 型冯维勒布兰德病的分子基础进行了详细研究，发现了一些分子缺陷。本章将重点介绍 3 型冯维勒布兰德病的临床和分子方面。
von Willebrand disease type 3 is the most severe form of this condition. Patients present with a moderate-to-severe bleeding tendency. The plasma von Willebrand factor level in these patients is very low or undetectable. Although rare, von Willebrand disease type 3 is of major interest because of its severe clinical presentation, the need for replacement therapy and the risk of occurrence of alloantibodies after the infusion of plasma concentrates. The inheritance of type 3 disease is typically autosomal recessive. The parents are often consanguineous, although compound heterozygous inheritance does occur. The molecular basis of von Willebrand disease type 3 has recently been studied in detail, several molecular defects being identified. This chapter will focus on the clinical and molecular aspects of type 3 von Willebrand disease.