The discovery of activated Protein C resistance lead invsetigators to discover that there was a specific Factor V allele that produced the resistance during laboratory testing and was a risk factor for thrombosis.
During the past 10 years many clinical studies have defined the importance of this allele as a risk factor for thrombosis alone and in combination with other diseases as well as other alleles linked to thrombosis.
Activated protein C formed when thrombin binds to thrombomodulin on the endothelial surface fuctions to inactivate Factor Va and VIIIa and slow the formation of blood clots at the site of vascular injury.
The Factor V Leiden allele is resistant to protease cleavage and inactivation thereby escaping an important regulatory step in preventing thrombosis.
The Factor V allele both in the heterozygote and homozygote patient has a major impact on the risk of thrombosis in a wide variety of settings.
Even Factor V Leiden genotype of the donor liver can alter the clinical risk of thrombosis in the recipient.
A 23 yo wm presented with Budd-Chiari syndrome and has a history of obesity and diabetes mellitus. There is no family history of thrombosis and his physician wants him considered for liver transplantation. You were asked to evaluate for hypercoaguable state. Multiple assays were performed and he was discovered to be aPC resistant. Favtor V Leiden revealed he was homozygous for the allele.
The questions that the GI service asks you include :
Where is Factor V ynthesized and by what cells ?
What would happen to plama and platelet Factor V if he would get a normal Favtor V genotype liver ?
Should donor liver be screened ?
Do recipients need to know their liver's genotype ?
Would treatment in the post transplant state change ?
Please read the references below to answer these questions.
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| Last updated 2015/07/12 13:28:10 EDT | Hits 617 |
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