Advance in the diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura.
10.3760/cma.j.cn511374-20200804-00585
- Author:
Wanying LIU
1
;
Yi XIAO
Author Information
1. Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China. yixiao@tjh.tjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
ADAM Proteins/genetics*;
ADAMTS13 Protein/genetics*;
Homozygote;
Humans;
Purpura, Thrombotic Thrombocytopenic/therapy*;
von Willebrand Factor/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(4):442-446
- CountryChina
- Language:Chinese
-
Abstract:
Congenital thrombotic thrombocytopenic purpura, also known as Upshaw-Schulman syndrome, is a rare autosomal recessive genetic disorder. The main pathogenesis is homozygous or compound heterozygous variants of von Willebrand factor lyase (ADAMTS13) gene mapped to chromosome 9q34, which may result in severe lack of ADAMTS13 which cleaves von Willebrand factor (vWF) multimers in the plasma and increase the risk of microvascular thrombosis, leading to various complications. The advance of research on the pathogenesis of cTTP, recombinant human ADAMTS13 and gene therapy have made breakthroughs which may lead to cure of cTTP. This article has provided a review for the latest progress made in the diagnosis and treatment of cTTP.
