Recognizing Hereditary TTP in Infants and Children

• Published in: Blood 2020-11, Vol.136 (Supplement 1), p.6-7
• Main Authors: Siddiqui, Anam, Borogovac, Azra, George, James N., Journeycake, Janna M.
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2020-133918

Recognition of hereditary disorders in newborn infants and early childhood is critical for anticipating and preventing adverse outcomes. Hereditary thrombotic thrombocytopenic purpura (HTTP) is caused by biallelicADAMTS13mutations. Absence of ADAMTS13 results in circulation of ultra-large von Willebrand factor multimers which increase risk for microvascular thrombosis, causing severe thrombocytopenia and microangiopathic hemolytic anemia. Extreme hemolysis with hyperbilirubinemia occurs in 42-45% of newborn infants (New Engl J Med2019;381:3653). Stroke occurs in 25-31% of patients with HTTP; the median age is 19 years; 22% of strokes occur before age 10 years (Blood Advances2019;3:3973). When HTTP is recognized, treatment with plasma infusion is simple and effective. Methods. To document the [1] relative frequency of initial symptoms, [2] age of initial symptoms and [3] age of diagnosis, we systematically searched for all case reports of patients with hereditary TTP whose diagnosis was confirmed by ADAMTS13 activity