Compound MTHFR mutations and Positive Cardiolipin AB Screen

[Twinsmom06]

Ok...most of you know my story and that I am in limboland still. I had my second opinion and she recommended some further blood work to check for factors that could contribute to stroke (not a fun word to hear) but I didn't think much of it given my "pin cushion" mentality these last couple of months!

To mine and my neuro's surprise, I tested positive for the "compound heterozygous for the mutations of C677T and A1298C in the MTHFR gene. Fairly common (40-50% population to have one or both but not so much to have it be compound...coming from two parents who were "mutated") My mom loves that...LOL. High risk for stroke, thrombosis, and other vascular issues...sounds yucky!

I also tested positive to the Cardiolipen Antibody Screen which is often an indicator or an autoimmune disease. So...now the neuro does not even want to touch me until I am seen by a hematologist to see if the scaring in my brain could be a result of small strokes or other blood/gene related issues.

I feel like I am starting all over again! Neuro is not ruling out MS but wants to see what this is all about before moving forward in any way. This is all so frustrating and I'm not sure what is worse to be honest. I'm 31 years old...are we really considering many, many small strokes???

Anyhow...just wanted to see if any of you have had this testing and if you had similar results...or complete opposite.

Again...I feel like I'm starting from square...3 (because I have my MRIs, my hospital visit and now this)...ugh!
Hope you all are doing well:)
Kim

[Sidesteps]

Kim,

(((Hugs))) I know it's just one.more.thing to rule in/out but you know...we know... the goal is find out what is wrong not necesarily find out that it's MS, right?

I was always "ok" as long as they were still searching with me. I became frustrated and lost when I was left with ambigious statements and no-where else to go.

Maybe this is the answer... or maybe it is part of an answer...either way, one good thing came from this is better awareness that you are high risk and need to be monitored closely for vascular issues.

I am thinking of you... let us know how this goes okay?

[teenyturner]

Hi Kim, I'm homozygous (both copies have gene mutation) for MTHFR.

The professor of metabolic Medicean I see tells me not to worry about it.. The thinking used to be that if you take Folic acid and lower your homocysteine level, the cardiovascular risk was reduced.

Seems as if they were wrong.  Even if you take the Folic acid and the homocysteine lowers, the risk of a thrombolic event stays the same.  That is, there is nothing you can do about it.

However, he also said, it causes ARTERIAL clotting,  and thrombosis in arteries, especially in the brain are quite often fast and fatal.

I don't have an anticardiolipin antibody but my 13 year old second cousin does.  She has this in conjunction with Lupus  and she has had multiple pulmonary emboli. She is always on blood thinners and has a filter placed in her inferior vena cava to filter out any clots that come from her lower body to her lungs.

Hope this helps.

Regards

[sllowe]

Hi Kim.....

Check these out - ACl, and APl tests, etc. Though it feels like scratch - I'm glad you are in with a hematologist because once this is ruled in or out you'll be that much closer to knowing what is going on.

http://www.hughes-syndrome.org/symptoms.htm

http://www.apsfa.org/aps.htm