Inherited TTP is Also Known As
Inherited thrombotic thrombocytopenic purpura is also known as Upshaw-Schulman syndrome (USS) or congenital TTP (cTTP). 1
Historical Nomenclature Evolution
The congenital form of TTP has undergone several name changes throughout its medical history:
Originally: Upshaw-Schulman syndrome (named after the physicians who first described it)
- Schulman identified the condition in 1960 in an 8-year-old girl
- Upshaw described it in 1978 in a 29-year-old woman 1
Subsequently: Chronic relapsing TTP 1
Currently: Most commonly referred to as congenital TTP (cTTP) in modern medical literature 1
Key Distinguishing Features
cTTP is caused by biallelic (homozygous or compound heterozygous) mutations in the ADAMTS13 gene, resulting in severe deficiency of ADAMTS13 activity (<10%) 1, 2, 3, 4. This distinguishes it from:
- Immune TTP (iTTP): Caused by autoantibodies against ADAMTS13 1
- Unknown cause TTP (uTTP): Severe ADAMTS13 deficiency without detectable autoantibodies or genetic mutations 1
The term "Upshaw-Schulman syndrome" remains in use, particularly in genetic and pediatric literature 2, 5, 3, 4, but cTTP is the preferred contemporary terminology in clinical practice and recent guidelines 1, 6.