A rare case of hereditary thrombotic thrombocytopenic purpura in a toddler

Abstract

Hereditary thrombotic thrombocytopenic purpura (hTTP) is a thrombotic microangiopathy caused by pathogenic variants in the ADAMTS13 gene resulting in highly reduced activity of von Willebrand factor-cleaving metalloprotease. hTTP is characterized by systemic for-mation of platelet-rich thrombi in microvasculature resulting in organ ischemia, throm-bocytopenia, and microangiopathic hemolytic anemia.

Keywords

• ADAMTS13 protease, pediatrics, thrombotic thrombocytopenic purpura