Congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (cTTP), also known as Upshaw-Schulman syndrome, is an ultra-rare, life-threatening hereditary thrombotic microangiopathy caused by biallelic loss-of-function mutations in the *ADAMTS13* gene

Congenital thrombotic thrombocytopenic purpura (cTTP), also known as Upshaw-Schulman syndrome, is an ultra-rare, life-threatening hereditary thrombotic microangiopathy caused by biallelic loss-of-function mutations in the *ADAMTS13* gene

Congenital thrombotic thrombocytopenic purpura (cTTP), also known as Upshaw-Schulman syndrome, is an ultra-rare, life-threatening hereditary thrombotic microangiopathy caused by biallelic loss-of-function mutations in the *ADAMTS13* gene Inherited in an autosomal recessive pattern, it leads to a severe constitutional deficiency of the plasma metalloprotease responsible for cleaving ultra-large von Willebrand factor multimers This defect drives widespread platelet aggregation and microvascular th...

Inherited in an autosomal recessive pattern, it leads to a severe constitutional deficiency of the plasma metalloprotease responsible for cleaving ultra-large von Willebrand factor multimers

The disorder presents across pediatric and adult populations with recurrent episodes of microangiopathic hemolytic anemia, profound thrombocytopenia, and ischemic organ injury, particularly affecting the brain, heart, and kidneys

The disorder presents across pediatric and adult populations with recurrent episodes of microangiopathic hemolytic anemia, profound thrombocytopenia, and ischemic organ injury, particularly affecting the brain, heart, and kidneys