Thrombotic Thrombocytopenic Purpura

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.

Historical Aspects

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

Test 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.

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.

Systematic

Thrombotic microangiopathies
	Hemolytic-Uremic Syndrome
	Poor response to Eculizumab
	Thrombotic Thrombocytopenic Purpura
		ADAMTS13

References:

1.	None (2003) Advances in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura.

2.	None (2003) Pathogenesis of thrombotic thrombocytopenic purpura.

3.	Orphanet article Orphanet ID 54057

4.	OMIM.ORG article Omim 274150

5.	Wikipedia article Wikipedia EN (Thrombotic_thrombocytopenic_purpura)