Anyone with Factor V Leiden mutation & MTHFR blood disorder?
Hi, I'm new here and just stumbled across this site on accident. I'm currently 39yrs old. I have Factor V Leiden and was diagnosed in 2013 (at 27 yrs old) after realizing from the 2nd hospitals Emergency department I went to found out I had pulmonary embolisms in both lungs and a nice not so nice lengthy stay in the ICU. (First hospitals ER Doctor on call for the ER was rude, racially profiling, and watched me black out and pass out off & on (from air way being blocked, i had multiple clots in both my lungs *Pulmonary Embolisms ) just to tell me "go home and try to get some rest if I can with having 3 kids" & said "I'll write a script for an inhaler you're just having Broncular spasms" sent me on my way out to go home, was there maybe an hour, quickest time ever in this Hospitals ER. Everyone in my city knows that you never get in and out of this hospitals ER that fast & it wasn't packed like it usually is so not like they were trying to rush to see other patients)
Jump down the road of horribleness to 2017-2018 when my 3rd hematologist/oncologist found out when I made them retest me that I not only had Factor V Leiden but also MTHFR..... Yay ! Not so much. He was a Doctor with 50+yrs, went to prestige medical schools. When I asked more about this new disorder he told me he in all his years of being in the medical field and a Great Doctor (miss him he retired,best doctor I've had in the last 11yrs if not best ever) he said he's NEVER had a patient or come across a patient with both the Factor V Leiden mutation and MTHFR disorder which I have. So it's been extremely scary.
Almost dying at 27 with 3 small young kids at that time, to living with all types of symptoms and issues after that in which the doctors don't really seem to be wanting to solve or help and learning I have two dangerous blood issues.......
(Also found other health issues during the last 10-11yrs after this)
I'm grateful though I didn't pass this on to my children the first thing I did was get them tested once I was told Factor V Leiden is a hereditary thing & that I had to of gotten it from one of my parents! Although my doctor always keep saying it's hereditary and I had to get it from one of my parents, my parents got tested for me and for their health safety after my situation and neither have the Factor V Leiden mutation....🤔 They are absolutely my biological parents and the doctors keep saying the same thing, "no one of them have to have it, that's how I had to of gotten it"..... 🤦🏼♀️🤷🏼♀️ but they don't 🙅🏼♀️& not only that my 3 full siblings & half sibling all negative also and my 3 children all negative and some nieces and nephews negative.... Plus no history in the family of anyone else having it still to this day..... I can't wrap my head around it.
Anyways, I can go on forever but that's a quick version of my story living with the Factor V Leiden mutation and the MTHFR disorder....
Oh yeah, I also get tingling fingers/hands/arms/toes/feet/legs and they always go numb at least daily & swelling in my feet/ankles/legs constantly. Even when I'm up and down making sure to keep the blood flowing to prevent clots.... I get moments of faintness but don't faint while standing or sitting, vision blurred spells and moments where it feels like I have vertigo but I don't.
No explanation from doctors on that either or need to try solving if you ask me they brush it off or say it's probably my weight (mind you though my weight has fluctuated in the last 10-11 years so that's not it) even though I've mentioned it repeatedly for the last 10yrs. All signs and symptoms I had which lead me to the ER in 2013 except I couldn't breathe back then and was actually passing out.
(2nd hospitals Doctors confirmed I was literally dying and was so lucky to have come in to there hospital after being sent home night before from the other hospital...when that all happened in 2013)
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You’re definitely not alonereading through this, it’s clear others have similar experiences with both conditions, even though it seems rare. It must be really frustrating not getting clear answers from doctors, especially with ongoing symptoms. Hopefully connecting with others here helps a bit and leads you toward better guidance or a specialist who takes it seriously.
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Yes, you’re right—it truly is a miracle that you survived.
VWF, particularly Type 2, is an inherited condition that, in certain situations, can increase the risk of complications, especially when blood pressure becomes very high. In your case, I understand that the CVST occurred when a clot blocked the normal drainage of blood from the brain, possibly near the cerebellum. When this happens, the brain’s ability to control movement (sometimes described using the “homunculus” representation) can be affected.
As pressure builds within the brain, reduced circulation due to impaired venous drainage may damage brain cells and can ultimately lead to a stroke.
Have you had a follow-up MRI since then?
Please understand I'm not an MD.
I’m mentioning all this because my son also has Factor II. At the age of 27 (many years ago), he was involved in a car accident. Although his main injury was in the left prefrontal cortex, he experienced some seizures and ultimately needed surgery to remove blood clots and prevent further hemorrhage.
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If you’d like, we can compare your VWF results with mine to better understand the significant differences, especially the role of Factor VIII.
Case report: Medical Summary – Hemostasis Evaluation
https://swaresearch.blogspot.com/2026/04/case-report-medical-summary-hemostasis.html
@jasonbsmith77
Hi again—your post about epilepsy prompted me to search through my archive, and I came across some papers and a YouTube presentation start at 15:35 minute. https://www.youtube.com/watch.
It made me wonder: have you ever been tested for lupus or APS?
Epilepsy in systemic lupus and antiphospholid syndrome
https://www.researchgate.net/publication/287768499_Epilepsy_in_systemic_lupus_and_antiphospholid_syndrome
Wishing you the best.
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