looking for information about the APCR genetic disease

Pam Snyder snyder.9 at osu.edu
Sun Jul 14 13:33:05 EST 1996


In article <31EBA253.C83 at resulb.ulb.ac.be>, Stephane Corteel
<scorteel at resulb.ulb.ac.be> wrote:

> A few weeks ago, we were informed that my wife (28 years old) is
affected by a 
> genetic disease called APCR.
> 
> The only information we have about this disease are :
> 
> - it is a genetic disease apparently due to the mutation of gene
> 
> - it has been recently discovered (2 or 3 years ago)
> 
> - it is related to blood coagulation
> 
> - The effects are increased if the patient eats food containing a high 
>   concentration in vitamin K
> 
> - Due to this disease, my wife has alrealy made 2 pulmonary embolisms 
>   in 1 year.
> 
> Can someon provide us with more information about this problem, references 
> in scientific litterature, known treatments, aso...
> 
> Thank you for all your answers.
> Stephane Corteel, scorteel at resulb.ulb.ac.be

I think you are referring to activated Protein C resistance, which is
caused by a mutation in the gene encoding for the factor V molecule. 

 This molecule greatly increases the rate of clot formation and is
regulated by another protein (activated protein C). APC regulates factor V
by cleaving it to reduce the rate of clot formation. If Factor V cannot be
appropriately cleaved, clot formation can result.  The Mutant Factor V is
called Factor V Leiden. 

The theory is it takes more than just one copy of Factor V Leiden to cause
problems (since 5% of the Factor V Leiden heterozygotes do not have
clotting problems).  The second "hit" could be genetic (as in another
clotting factor) or environmental.  (Oral contraceptives are a risk
factor, as is any kind of trauma).

There is a direct molecular test available for this mutation.  I assume
your wife has been diagnosed molecularly.

The following paper defined the mutation,

Nature 369:64-7 (1994)

There are hundreds of papers out there on the subject right now.  A
medline search yields, I believe, greater than 300. Search for Factor V,
Mutation

This newsgroup is subcribed by several labs who test for the assay as
well, including the one I work in at the Ohio State University Hospitals.



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