Pulmonary Embolism Support Group

By far the most common form of pulmonary embolism is a thromboembolism, which occurs when a blood clot, generally a venous thrombus, becomes dislodged from its site of formation and embolizes to the arterial blood supply of one of the lungs. Symptoms may include difficulty breathing, pain during breathing, and more rarely circulatory instability and death.

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Prothrombin mutation factor II?

kerenza
kerenza
I was diagnosed with this, my parents went to be tested today and my mum said she was told that it didn't have to have come from one of my parents. She couldn't remember exactly what they said but basically I could have developed the mutation myself, does anyone know if this is true?

Karen xx
More2be
More2be
Not quite sure I understand what she was told and how she was told it. Most cases of 20210 mutation involve only one copy carrying the mutation for a heterozygote, so one parent would be with and one without it. Homozygousity, in which both parents carry at least one bad copy, is rare for 20210.

The chances of spontaneous mutation matching one with a known prevalence in the general population is a matter outside my expertise. Maybe you can seek advisement from a genetic counselor http://apnews.myway.com//article/20090901/D9AEFDC80.html.

Meanwhile, your more pressing priority is doing the things you need to accommodate living with the situation.

Some representative links:
http://www.aruplab.com/guides/ug/tests/0056060.jsp
http://circ.ahajournals.org/cgi/content/full/110/3/e15
http://www.stoptheclot.org/natt_publications/CongenitalThrombophiliaLifeblood.pdf