Hereditary Thrombotic Thrombocytopenic Purpura Associated With Recurrent Strokes and Prominent Nervous System...

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.