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

TL;DR

A young Chinese woman with a rare blood disorder caused by specific gene mutations experienced repeated strokes and severe nervous system issues.

Contribution

The paper reports a novel case of hereditary TTP with compound ADAMTS13 mutations linked to neurological complications.

Findings

Compound heterozygous ADAMTS13 mutations were identified in a patient with hereditary TTP.

Patients with these mutations are prone to recurrent strokes and prominent neurological symptoms.

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.

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 case findings suggest that patients with these mutations are prone to recurrent strokes and exhibit prominent neurological symptoms.