Thrombotic thrombocytopenic purpura pathophysiology: Difference between revisions
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== Genetics == | == Genetics == | ||
Genes involved in the pathogenesis of TTP include:<ref name="pmid28678087">{{cite journal |vauthors=Conboy E, Partain PI, Warad D, Kluge ML, Arndt C, Chen D, Rodriguez V |title=A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant |journal=J. Pediatr. Hematol. Oncol. |volume=40 |issue=1 |pages=60–62 |date=January 2018 |pmid=28678087 |doi=10.1097/MPH.0000000000000895 |url=}}</ref> | |||
mutations in the ADAMTS13 gene. | |||
The development of TTP is the result of inherited ADAMTS13 deficiency but mild phenotype with increased von Willebrand factor level. Upshaw–Schulman syndrome is hereditary of TTP. | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Saeedeh Kowsarnia M.D.[2]
Overview
Pathophysiology
- The exact pathogenesis of TTP is not completely understood.
- It is understood that TTP is caused by either deficiency of a plasma metalloprotease, ADAMTS13.
The von Willebrand factor (VWF) is produced by the endothelial cells as an ultra-high-molecular-weight multimers. Normally, VWF is sliced by a plasma metalloproteinase called ADAMTS13 into smaller multimers. When the activity or the amount of the protease is not enough, the ultra-high-molecular-weight multimers of VWF commence platelet aggregation and thrombosis in small vessels.[1]
- VWF and platelets are decumbneted
Genetics
Genes involved in the pathogenesis of TTP include:[2]
mutations in the ADAMTS13 gene.
The development of TTP is the result of inherited ADAMTS13 deficiency but mild phenotype with increased von Willebrand factor level. Upshaw–Schulman syndrome is hereditary of TTP.
References
- ↑ Tsai HM (January 2010). "Pathophysiology of thrombotic thrombocytopenic purpura". Int. J. Hematol. 91 (1): 1–19. doi:10.1007/s12185-009-0476-1. PMC 3159000. PMID 20058209.
- ↑ Conboy E, Partain PI, Warad D, Kluge ML, Arndt C, Chen D, Rodriguez V (January 2018). "A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant". J. Pediatr. Hematol. Oncol. 40 (1): 60–62. doi:10.1097/MPH.0000000000000895. PMID 28678087.