Clinical feature: 

Definition: This disease is a thrombotic microangiopathy. It is characterized by the presence of neurological signs not attributable to uremic encephalopathy. Other organs including the kidneys may also be affected.

History: Moschcowitz, E. was the first to describe this disorder in 1924.

Pathogenesis: Impaired function of ADAMTS13 protease can cause TTP. Mutations in ADAMTS13 gene are responsible for hereditary TTP. Aquired forms are due to inactivating antibodies. The molecular mechanism is described on genetic test page.

Diagnostics: 

Strategy: In addition to the common laboratory analysis required for thrombotic microangiopathies measurenment of ADAMTS (metalloproteinase) activity may be considered. In cases with reduced activity or evidence of inheritance molecular diagnostic should be considered.

Literature: 

Moschcowitz, E E (2003) Hyaline thrombosis of the terminal arterioles and capillaries: a hitherto undescribed disease.
Raife TJ et al. (2003) Pathogenesis of thrombotic thrombocytopenic purpura.
Tsai HM et al. (2003) Advances in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura.