FV Leiden pseudo-homozygotes

Hi @beekb Genetics are fascinating but also a little unnerving if there is a familiar genetic mutation. It can be hit or miss with each relative. FV Leiden is a blood condition which may lead to complications with blood clotting. It can run in families so both you and your brother may share this in common. You’ve already taken a step to have genetic sequencing done. So, with those results being positive it’s probably a good idea to have a followup a specialist.

Your primary doctor sounds very diligent in looking for answers with your enlarged lymph nodes. A PET scan will be a valuable tool in providing a clearer picture of what’s going on there… I’m right along with you in wishing for only good news with the scan. It would be a good idea to discuss the elevated clotting risk with your Primary and get a referral to a hematologist for the Factor V Leiden. From my understanding, there are types and risk factors that will help determine if you need treatment such as blood thinners or not. But safer to find out.
You mentioned being seen in Rochester previously? Was this with the hematology department?

@loribmt
No have not been back to Mayo since 2019 for MASH, or NASH liver disease, familial hypertriglyceridemia, and 4.1 cm aortic aneurysm that’s been stable since 2014. In the meantime my local health partners clinic found Sjogrens in 2019 (mayo missed) and today found out i have anti phospholipid syndrome, another autoimmune disease that causes clots. This week I showed my rheumatologist the genetic tests at regular follow up. He ordered the APS test due to the genetic factor 5 deficiency with FV Leiden and I’ve been anticardiolipin antibody positive for a while. Awaiting rheums response / plan. Just had a nuclear stress test ordered by primary and it was reassuring. Also a pet scan forthcoming by primary for those persistently enlarged lymphs nodes. Taking crestor, baby aspirin, niacin, & beet root, c, d, other vitamins. No clotting events except a huge one postpartum in 1999. OB back then brushed it off. My son is 26 and we’re getting the gene test for him.

Hi @beekb Ooops, I read your other reply first, in a platelet discussion, and responded with a couple of questions. You can disregard those. You’ve answered them right here. I was wondering if you’d had a clotting event recently that spurred the investigation into finding your anti phospholipid syndrome diagnosis. So, did you have the genetic testing done on your own?

Hi Lori, Thanks for asking. I self-ordered after I found out bro had dvt in December.

This year’s health adventure began in late Aug with a car trip to Canada for a wedding in Ontario and then on to Quebec. We rode our ebikes in Ottawa along the Rideau canal (20 miles) and i felt off when we got back to nephew’s house and slept 2 hrs. When we arrived in Quebec 2 days later I had terrible cold sweats, drenching sheets and shivering. So we cut short our plans to go to Maine and headed back home after 1 nite in that beautiful city 🙁

I went to primary after labor day and she said if the sweats don't subside in 3 mos, will order a ct scan. I took it easy, missed another planned trip. I continued ebiking in fall, night sweat let up a little but super fatigued. Sweats came randomly, so I was thinking it was anxiety again. By Jan, I also had insomnia again and felt way off. Tests ordered by primary so far have all been reassuring. Just slow moving!

On March 20 when i got the gene results I had no idea about clotting disorders except 1 gene for Factor V Leiden, from a 23&me test (since deleted due to data breach) and confirmed a few years back by the rheum, who recommended seeing hematology but I declined as feeling well then.

The upcoming pet is to figure out the enlarged lymph nodes, seen on CT, suspecting a blood cancer related to Sjogrens. I’m hoping they are benign and related to autoimmune. So with the high confidence test results showing the FV disorders, I had my annual rheum appt last week. He ordered regular ANA tests done yearly (cardiolipin antibody was pos last year and again this year) so ordered APL test, tho as I understand it’s not related to FV but another clotting concern.

So I’m thinking this whole ordeal may be clotting from the car ride. He ordered lung function tests next week and im going to ask for a d-dimer. I don’t have his full summary on the tests yet but had to look. :/

Good news is I rode my ebike 1.5 miles today! First ride of spring. I typically ride 5-10 m a day weather permitting.

Sorry this is novella length but I was a writer/editor and worked in a university academic health center communications as well as a medical assn magazine back in the 1990s. So i love researching, but I can be my own worst enemy too. 🙂

Happy Easter!