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.
