Genetics

My sister is having surgery to remove a blood clot from her heart today. She has had multiple clots, both venous and arterial. She has a few in her lungs, the main one has completely blocked off the lower portion of her lung, and it has basically died. She also had an 8cm one in her brachial artery that had to be removed in January. She's had every clotting test done, and still no answers. I've also had two blood clots that had to be removed after injuries.

Maybe I'm grasping at straws, but I wonder if we have some kind of genetic condition. Not necessarily a clotting disorder, but maybe something that causes hypercoaguability and other issues. Does that make any sense?

6 Comments

Genetic predisposition to clotting

by AgentX86 - 2023-05-05 13:28:47

It seems there are a few genetic causes of this and more common than one might think:

– Factor V Leiden (V is the Roman numeral for number 5), which affects 3-7% of the population

– Prothrombin gene mutation G20210A, which affects 3-7% of the population

– Deficiency of protein C, protein S, and antithrombin, each affecting less than 1% of the population

<https://thrombosis.org/2019/01/genetic-risk-factors-blood-clots-role-genetic-testing/>

Yep

by Lavender - 2023-05-05 13:35:35

As AgentX86 said Factor V Leiden mutation, which occurs in 5% of people of European descent, can be a cause. My ex husband and his mom-both 100% Italians, had it. Both had a history of clotting. Both had to be on life long anticoagulants. 
 

A friend has it as well. She's half Italian. Ended up with a pulmonary clot around age 30. Is on coagulation too. 
 

How is Factor V Leiden Diagnosed? The presence of Factor V Leiden is easily diagnosed with a laboratory test. This test looks at an individual's DNA to see if they are making normal Factor V or the abnormal Factor V Leiden. It also identifies if a patient has one or two copies of the Factor V Leiden gene.

I hope you get answers soon

by Gemita - 2023-05-05 13:36:42

Mae, I am very sorry to hear about your sister’s difficulties and I hope the procedure goes well for her today.  I hope that both of you can be reassured that nothing is being missed and that you will be offered further investigations if appropriate, including genetic testing.  

As a matter of fact my sister in law was diagnosed with Antiphospholipid Syndrome, an autoimmune condition which causes abnormal blood clots to form.  She was diagnosed with this after she lost her child, a little boy whose tiny heart stopped beating days before she was due to give birth.  It was tragic.  She decided not to have a family.  Little Adam would have been 10 this year.

Please stay safe both of you and I hope you get some answers soon. 

Clotting

by Mae11 - 2023-05-05 13:54:45

They have tested her for just about every "clotting factor" issue, but still no answers. This clot was found while doing a bubble study to check for a septal defect because all of the tests were coming back negative. 

Mine were much less severe, but unusual. I fell down the stairs when I was young and developed a massive blood clot in my butt cheek ( funny story, but really who else would have that happen lol ). The second was after a very bad car accident. They believe the force of the airbag broke blood vessels and from the stagnant blood sitting in there caused a clot and a horrible infection.

Who knows, but it seems like too much of a coincidence to not have some connection.

Genetic?

by Gotrhythm - 2023-05-05 15:23:08

I don't claim to have any expertise on this subject, but it certainly sounds like there could be some sort of familial connection. Have others in your familiy had problematic blood clots? The trouble with many genetic conditions is that they won't find it, if they are not looking for it. The rarer the condition, the more true that is.

To find out if this is a specific genetic condition, especially a rare one, you might need to go to a geneticist, rather than a "blood-clot" doctor.

Just my 2 cents.

Family ties

by Mae11 - 2023-05-05 15:48:23

I agree completely! She has been going to a hematologist since her first PE last June and they don't seem to have the answers. Our Mom also had a large clot in her stomach, which ended up resulting in a total hysterectomy. 

I would love to be able to say AHA! This ties everything together. She thinks the same as I, that there is some kind of connection. Maybe in the future a geneticist would be the answer.

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