Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of the VWF (von Willebrand Factor) cleaving metalloprotease, ADAMTS13, resulting in the abnormal presence of ultralarge VWF multimers and the formation of circulating platelet rich microthrombi.

Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by autosomal recessive mutations in the ADAMTS13 gene.

The clinical presentation of cTTP ranges from life-threatening, acute, overt TTP events to milder TTP manifestations, including thrombocytopenia, haemolytic anaemia, abdominal pain, headaches and neurological symptoms.

The clinical presentation ranges from life-threatening, acute, overt TTP events to milder TTP manifestations, including thrombocytopenia, haemolytic anaemia, abdominal pain, headaches and neurological symptoms.

Patients with cTTP experience disease- and treatment-related complications and burdens that have a negative impact on their HRQoL.

Prophylaxis is a recommended approach for some patients with congenital thrombotic thrombocytopenic purpura (cTTP)