Had no PE symptoms, DVT or med history until coughing up blood and pain hit. CAT revealed only the size of the PE. MRI's and 3 extensive ultrasounds (legs, feet, knees) revealed absolutely nothing. I did however have an MD that wanted answers as to the cause. As a last resort, a DNA test was performed (insurance of course won't pay for it) and found I had inherited a "heterozygous" gene, MTHFR, 1 from each of my parents, which affects our bodies Anticardiolipin IgM antibody . Evidently, inheriting 1 won't hurt you, but getting both is a major problem.

"Anticardiolipin IgM antibody is an anti-mitochondrial antibody released in our body against cardiolipin. Cardiolipin is found in blood platelets and various cell membranes. The anticardiolipin IgM antibody is also known as the antiphospholipid antibody. It is commonly found in patients with recurrent venous and arterial thrombosis. i.e.DVT

Bottom line is a person genetically loses control of their bodies ability to prevent normal blood clotting withing the veins and arteries.

Hope this helps some.

@tcdew
I'm a proponent of genetic/DNA testing even though I know there is still a lot of controversy about everyone getting it. That's a discussion for another thread. (grin)

But I want to ask----- if a person has inherited both those genes wouldn't they have been plagued with DVT's/PE's or other bleeding problems all their life. (I'm assuming you're over 21)

Of course, bodies being what they are (very complicated systems) perhaps there's a hormonal or age or other reason for a delay in problems.

@cave76 - You're kind - I'm well over 21. I'm 61. Had PE 2 yrs ago. I asked my MD the same questions you just brought up. My blood has always been quick to clot. No serious bleeding problems. No heart problems (2 stress tests w/ CAT & MRI in last 6 yrs). No family medical history (I'm the only one) Thought it might be weight but I weigh only 30 lbs more than when I was 25 (180 @ age 25 @ 5' 9"). Developed a cholesterol problem 10yrs ago (was on Lipitor). Lipitor did cause my legs to go numb while asleep at night. Prior to the PE I was very active - sports, jogging, worked out, etc.; worked in heavy electrical construction (power plants) - and never so much as a hint of a PE or symptoms.

The one thing my Pulmonary MD told me is that the suddenness and extreme size of my PE without any prior symptoms are text book genetic in cause - so he says!. I take this with a "grain of salt" as he may just be grasping onto the only answer which explains it for him. Which leaves me still asking the same questions you asked.

I agree with you that the body is quite a "machine" we don't completely understand. It does pretty good with keeping all, in order, but sometimes, like a machine, it just wears out and needs some help. I hadn't thought about hormones -

@tcdew:
"Which leaves me still asking the same questions you asked. "

So many questions. So few answers. (grin) I'm glad to see that you have a critical mind-set and have probably done a lot of research yourself about this genetic conundrum.

I just threw out 'hormones' as a possible reason. But I doubt if you can find an endocrinologist who would go beyond the same ol', same ol' tests.

What 'we' need is a medical specialty for 'diagnostic medicine'. In my perfect world a medical diagnostician would have his finger on the pulse of ALL conditions and be able to cut through the mustard.

Each 'specialist' is a doctor with one hammer and one nail.

PCPs are supposed to diagnose and send patients on to a specialist if needed----- but what PCP can keep up with everything? Not many? None?

I was fortunate to have, years ago in another state, a doctor who could and DID diagnose. Haven't found one since. :(

There isn't always a visible reason for a clot. In my case, I have a Leiden v gene mutation. That just means that I am 10 times more likely to get clots than a normal person. It is heriditary, and all of my 3 siblings have this mutation. Only 1 of us has not had a clot to this point.

My PE developed without a DVT as well. I was a smoker but never the pack a day smoker or anything. At my worst it was a pack a week. My doctor suggested my PE could also be due to family history, possibly a protein deficiency.

I was initially told that I can't get tested for this genetic protein deficiency until I was done with my warfarin treatment. I learned recently that there are various factors that can be test for while on these blood thinner medications.

Unfortunately, my insurance ran out before I could get these test completed. So I'm still taking my meds and in the process of getting my insurance back.

My concern is I keep feeling these weird tremors in various parts of my body. Almost like a wiggling of my veins. Does anyone else ever feel these symptom?

@Rookie

There are a number of different blood clotting tests they can do. Some can be done while on warfarin (e.g., Factor V, Factor II, Antiphospholipid) but there are others that can't (Protein C or S deficiency, Antithrombin Deficiency). A hematologist can help with the tests and making sure that they are done correctly.

As for the tremors .... are you keeping well hydrated? I tend to get muscle cramps every so often if I'm not getting enough water and electrolytes.

I also never had a symptom of a DVT, nor was one ever found. They simply told me that was more than likely where it orginated from. I also did not have symptoms of PE's prior to that morning, despite having massive saddle PE's. NO SOB, chest pain, nothing. Not until as I said, that morning, and within less than an hour of symptoms, I was at the hospital and blue. To this day it shocks me how fast it all happened, without warning. They checked my legs from top to bottom, but not my arms. Honestly, I don't care where it came from, just where it ended up! :)

I didn't have any leg pain either. They did an ultrasound on my legs and didn't find any DVT. My first clue was being short of breath but even then, they treated me for an upper resp. infection which I did have. After Prednisone and an anitbiotic and two inhalers, I didn't get any better with the breathing. I finally went to a pulmonologist and he set up several tests for me the following week. I never made it that far. I wound up in the ER and it went on from there. Both of my PE's were very large and I had many small ones. I was in the ICU for 6 days. :(

I was on the pill and am over 40. I just wish that my OBGYN would have considered a different route for me and not put me on the pill. Water under the bridge I guess.

I do consider myself lucky. But I certainly am feeling very vulnerable.

I didn't have any signs/symptoms of DVT when I got diagnosed for my PE. I can't really tell you if I did or did not have one because they didn't even do an ultrasound on my legs at all, they did the CT scan for my lungs and just started lovenox treatment until the warfarin kicked in.

Had a PE, no signs or symptoms of a dvt, tests for clotting factors came up negative. All doctors involved believe the birth control pills I had to start for other health problems 4 months earlier was the cause.

Lsinc, your story sounds a lot like mine. Had Doppler of legs and found nothing there, but clot in lung is there.

I had breathing issues, was given Prednisone in late February, it seemed to work, but then a week later the breathing issues returned, did Prednisone again, and this time didn't work. Which got me to the ER where they figured out the PE after scans and CTs.

I wonder if the initial clots were just really small. The blood vessels in the lungs tend to catch anything bigger than normal that comes through, because they are smaller. If you had a small "scab" on the side of a vein in your leg, nothing near the size of a DVT that would cause issues, that broke off and got lodged in your lung, then that being lodged there, even if I didn't block the flow completely, would have slowed it down. Slower flow leads to a higher chance of clotting, and if you are already genetically susceptible to clotting, then a PE could very easily form. Just a suggestion. It wouldn't be something they could detect, and there are small tears in our veins that are repaired all the time.

I also did not have a DVT before my bilateral extensive PEs. I had a leg u/s and they did both the upper and the lower leg. I'm still in the midst of all the genetic testing though so that may find another reason.

No DVT here either. PE due to birth control. Dr. said that due to the severity of my clots they were surprised I didn't die. I'm young (33) and healthy (non-smoker, exercise...) with no family history and I ended up in the hospital.
I wish there was more info for people like me out there. Everything I tend to find has to do with DVT.