Hereditary Thrombotic Thrombocytopenic Purpura Associated With Recurrent Strokes and Prominent Nervous System Involvement in a Young Chinese Female

Clinical Case Reports 2026 Open access

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Authors: Wanying Liu, Jiaying Wu, Xi Ming, Qi Zhang, Delian Zhou, Rubing Zheng, Mi Zhou, Zhen Shang, Liting Chen, Xiaojian Zhu, Yi Xiao
DOI: 10.1002/ccr3.72102
Cited by: 0
References: 11

Abstract

ABSTRACT Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive inherited disease caused by an ADAMTS1 gene mutation, resulting in absence or severe deficiency of plasma ADAMTS13 activity. The common causes include infection, inflammation, or pregnancy. Here, we present a case involving a 30 year old female with hereditary TTP, identified as compound heterozygous mutations of ADAMTS13 c.1045C > T (p.Arg349Cys) and c.2411G > A (p.Cys804Tyr). Our findings suggest that patients with these mutations are prone to recurrent strokes and exhibit prominent neurological symptoms.

Fields of Study & Subjects

Complement system in diseases Blood Coagulation and Thrombosis Mechanisms Platelet Disorders and Treatments

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
3
Pages
e72102–e72102
Publication date
1 March 2026
Language
EN