Last May I came down with what I had believed was bronchitis. I continued to feel increasing shortness of breath, chest pressure, lightheadedness, and even a genuine feeling of doom for several days (always thought 'feelings of impending doom' were bogus - until experienced!). Finally, after sucking back the Ventolin puffer with no relief, I decided to go to the ED. The Dr ordered bloodwork, ABGs, ECG, CXR, and then a CT Angiogram. The results? Multiple Bilateral Pulmonary emboli. I was started on LMWH, then Warfarin, and a week later went home.
I had no obvious reasons for the emboli. No recent surgeries, no long trips, no prolonged periods of inactivity. In effort to determine why I developed the emboli several tests were performed.
Bilateral leg dopplers - negative.
Echo - negative.
Pelvic u/s - negative
Mammogam - negative
Fairly Routine Bloodwork (ie: the usual stuff - forgive my lack of details here) - for the most part negative. Except for a prolonged PTT time and a normal PT time. The one clue I had to go on.
More Advanced Bloodwork - Lupus Anticoagulant - negative, Anticardiolipins (?) - negative, Protein C and S - negative (or normal - whatever the references are).
This is what I had to go on. Each test result (above - although I've probably missed mentioning several) apparently gave no reason specifically for my development of the emboli. This bothered me to no end. I was not content in accepting the fact that just because there was no apparent cause of the emboli I would never know exactly why I developed them. I was told that often times a cause is not discovered.
And so I turned to Pub Med. During my newfound boredom from being off work I began my search for answers. Interestingly I was able to (almost) diagnose myself. No - I am not some sort of freak who reads medical sites so I can tell my Dr what is wrong with me and what I need prescribed. In fact, I am a nurse with a little bit of knowledge and as such was able to come to a somewhat feasible diagnosis. Let me explain a little more. To do this I must tell you a bit more of my own and my family history. Details are lacking here - as they have been to me all my life.
I was born full term weighing 2 lbs 4 oz. Was in hospital for several months before I went home - but otherwise healthy. Was told my mother had some type of a 'partial stroke' while pregnant with me and I stopped growing in-utero @ 7 mths.
When I was two I had eye surgery for some type of blockage. Grew up being told I would be blind by the time I hit my teenage years. Don't know anymore details of the surgery or condition. I wear glasses but am nowhere near being blind (pushing 40 y/o now). To this day I do not know what type of eye condition I had been diagnosed with at the time. And I'm not able to find out from anyone/anywhere.
I also had a sister who had a healthy, normal pregnancy. She had a rather uneventful birth of a healthy daughter. Shortly after delivering she hemorrhaged. Lots. BP dropped to 60/40. She died from complications 10 days later. This occurred when I was quite young and unfortunately I do not recall many of the other details. I've often thought it was a DIC type of thing.
I gave birth to two healthy full term children, both small for gestational age (4 lbs 4 ozs, and 5 lbs 15 oz). No miscarriages no other pregnancies.
And finally, being a fairly healthy person usually, I've been having episodes of RUQ pain throughout the past few years. It comes and goes and seems suspiciously like some type of gallbladder disease. I have gone to the ED on several occasions however bloodwork, u/s, CT, and HIDA scans have all been normal.
I occasionally get some nasty headaches (migraines?) too.
That's it for my past history. Which brings me back to my Pub Med search and my search for reasons for the pulmonary emboli.
I recall reading an article (after SEVERAL others) that stopped me short in my tracks. During all my reading I never once considered ANY of my (or my family members) medical history - quite frankly because none of it seemed to be relevant to my recent diagnosis. So, if you can, imagine my surprise when I read one article that quite literally not only mentioned all of the medical 'mysteries' in my life - but gave me answers for them and a potential reason for my pulmonary emboli.
The article was describing Antiphospholipid Syndrome. It seemed I suddenly had the answers to many of my questions. I was quite pleased, although a little doubtful, of this revelation. I had an appt with my family Dr not long afterward. With more than a little apprehension (of sounding like a self-diagnosing freak) I mentioned my personal research findings. She too thought it might be a likely diagnosis. The following week I had an appointment with my hematologist to review the results of my genetic tests. Turns out I didn't have APS. Instead, I have been diagnosed as having G20210A mutation (prothrombin gene mutation). It looks as though I will be on life-long anticoagulation. And thankfully, our children have since been determined to NOT have the mutation.
Interestingly, I'm not quite sure now HOW or WHY my personal and family medical history seemed to be so geared toward APS (which I do not have) but it does seem as though everything still ties together. And truthfully I'm not even sure if the G20210A mutation could be related to the other problems in a similar manner to that of APS. Seems there's not much info in this relatively new discovery of the prothrombin gene mutation.
And so…
I wonder if my mother had clotting problems in her placenta which caused me to be small at birth. Could this be a type of a 'partial stroke' (she never had any neuro deficits that I recall)?
I wonder if I had a clot causing the 'occlusion' in my eye that required surgery?
I wonder if a similar (prothrombin gene mutation) could have played a role in my sisters post partum hemorrhage?
I wonder if my own children were small at birth due to placental clots?
And, I wonder if my mysterious RUQ pain could be related in some way?
I have a few other questions too.
For example - if my INR stays in the therapeutic range of 2-3 - can I still form blood clots and emboli given the fact that my prothrombin gene is mutated? Does a therapeutic INR just lower my chances of this or does it eliminate it?
What happens - providing anticoagulation remains in the therapeutic range - if I do develop more clots? How would they then be treated?
My INR has become fairly stable since starting on the warfarin. It is usually around 2.7.
Last week I had another episode of RUQ pn x 3 days and at the time my INR was noted to be 3.6. It has since come down to 2.8.
Also, the use of warfarin has had a horrendous impact on my menstrual cycle. Due to having seven or eight solid days of very heavy menses (with irregular and shorter days in between episodes) I have requested a consult with a gynecologist. His recommendations were: an IUD (which I do not want), or the use of progesterone (?) PO, or the use of an antifibrinolytic PO, or an endometrial ablation. I am really confused as to which method to choose. At my appt with him I had agreed to the ablation and a biopsy was done (resulted negative). I've since made another appt to review my options with him again, in light of the fact that I'm now rather scared to have the ablation performed (bleeding? perf? etc). Maybe one of the PO options would be alright - but at this point I am just not so sure what to choose. Again, I've tried to find resources on my own to help me make a decision - but instead I've just become even more confused. Somehow, however, I've got to manage the menses as it's become very unbearable.
I am searching for more information from knowledgeable individuals to help me understand not only my current diagnosis, but that of my past, and considerations for the future too. I'm not sure how interested you may be in sharing this story and providing more info. I do hope to learn more from you and to hear your views on what has happened and what may lie ahead.
Thanking you for your time :)
I had no obvious reasons for the emboli. No recent surgeries, no long trips, no prolonged periods of inactivity. In effort to determine why I developed the emboli several tests were performed.
Bilateral leg dopplers - negative.
Echo - negative.
Pelvic u/s - negative
Mammogam - negative
Fairly Routine Bloodwork (ie: the usual stuff - forgive my lack of details here) - for the most part negative. Except for a prolonged PTT time and a normal PT time. The one clue I had to go on.
More Advanced Bloodwork - Lupus Anticoagulant - negative, Anticardiolipins (?) - negative, Protein C and S - negative (or normal - whatever the references are).
This is what I had to go on. Each test result (above - although I've probably missed mentioning several) apparently gave no reason specifically for my development of the emboli. This bothered me to no end. I was not content in accepting the fact that just because there was no apparent cause of the emboli I would never know exactly why I developed them. I was told that often times a cause is not discovered.
And so I turned to Pub Med. During my newfound boredom from being off work I began my search for answers. Interestingly I was able to (almost) diagnose myself. No - I am not some sort of freak who reads medical sites so I can tell my Dr what is wrong with me and what I need prescribed. In fact, I am a nurse with a little bit of knowledge and as such was able to come to a somewhat feasible diagnosis. Let me explain a little more. To do this I must tell you a bit more of my own and my family history. Details are lacking here - as they have been to me all my life.
I was born full term weighing 2 lbs 4 oz. Was in hospital for several months before I went home - but otherwise healthy. Was told my mother had some type of a 'partial stroke' while pregnant with me and I stopped growing in-utero @ 7 mths.
When I was two I had eye surgery for some type of blockage. Grew up being told I would be blind by the time I hit my teenage years. Don't know anymore details of the surgery or condition. I wear glasses but am nowhere near being blind (pushing 40 y/o now). To this day I do not know what type of eye condition I had been diagnosed with at the time. And I'm not able to find out from anyone/anywhere.
I also had a sister who had a healthy, normal pregnancy. She had a rather uneventful birth of a healthy daughter. Shortly after delivering she hemorrhaged. Lots. BP dropped to 60/40. She died from complications 10 days later. This occurred when I was quite young and unfortunately I do not recall many of the other details. I've often thought it was a DIC type of thing.
I gave birth to two healthy full term children, both small for gestational age (4 lbs 4 ozs, and 5 lbs 15 oz). No miscarriages no other pregnancies.
And finally, being a fairly healthy person usually, I've been having episodes of RUQ pain throughout the past few years. It comes and goes and seems suspiciously like some type of gallbladder disease. I have gone to the ED on several occasions however bloodwork, u/s, CT, and HIDA scans have all been normal.
I occasionally get some nasty headaches (migraines?) too.
That's it for my past history. Which brings me back to my Pub Med search and my search for reasons for the pulmonary emboli.
I recall reading an article (after SEVERAL others) that stopped me short in my tracks. During all my reading I never once considered ANY of my (or my family members) medical history - quite frankly because none of it seemed to be relevant to my recent diagnosis. So, if you can, imagine my surprise when I read one article that quite literally not only mentioned all of the medical 'mysteries' in my life - but gave me answers for them and a potential reason for my pulmonary emboli.
The article was describing Antiphospholipid Syndrome. It seemed I suddenly had the answers to many of my questions. I was quite pleased, although a little doubtful, of this revelation. I had an appt with my family Dr not long afterward. With more than a little apprehension (of sounding like a self-diagnosing freak) I mentioned my personal research findings. She too thought it might be a likely diagnosis. The following week I had an appointment with my hematologist to review the results of my genetic tests. Turns out I didn't have APS. Instead, I have been diagnosed as having G20210A mutation (prothrombin gene mutation). It looks as though I will be on life-long anticoagulation. And thankfully, our children have since been determined to NOT have the mutation.
Interestingly, I'm not quite sure now HOW or WHY my personal and family medical history seemed to be so geared toward APS (which I do not have) but it does seem as though everything still ties together. And truthfully I'm not even sure if the G20210A mutation could be related to the other problems in a similar manner to that of APS. Seems there's not much info in this relatively new discovery of the prothrombin gene mutation.
And so…
I wonder if my mother had clotting problems in her placenta which caused me to be small at birth. Could this be a type of a 'partial stroke' (she never had any neuro deficits that I recall)?
I wonder if I had a clot causing the 'occlusion' in my eye that required surgery?
I wonder if a similar (prothrombin gene mutation) could have played a role in my sisters post partum hemorrhage?
I wonder if my own children were small at birth due to placental clots?
And, I wonder if my mysterious RUQ pain could be related in some way?
I have a few other questions too.
For example - if my INR stays in the therapeutic range of 2-3 - can I still form blood clots and emboli given the fact that my prothrombin gene is mutated? Does a therapeutic INR just lower my chances of this or does it eliminate it?
What happens - providing anticoagulation remains in the therapeutic range - if I do develop more clots? How would they then be treated?
My INR has become fairly stable since starting on the warfarin. It is usually around 2.7.
Last week I had another episode of RUQ pn x 3 days and at the time my INR was noted to be 3.6. It has since come down to 2.8.
Also, the use of warfarin has had a horrendous impact on my menstrual cycle. Due to having seven or eight solid days of very heavy menses (with irregular and shorter days in between episodes) I have requested a consult with a gynecologist. His recommendations were: an IUD (which I do not want), or the use of progesterone (?) PO, or the use of an antifibrinolytic PO, or an endometrial ablation. I am really confused as to which method to choose. At my appt with him I had agreed to the ablation and a biopsy was done (resulted negative). I've since made another appt to review my options with him again, in light of the fact that I'm now rather scared to have the ablation performed (bleeding? perf? etc). Maybe one of the PO options would be alright - but at this point I am just not so sure what to choose. Again, I've tried to find resources on my own to help me make a decision - but instead I've just become even more confused. Somehow, however, I've got to manage the menses as it's become very unbearable.
I am searching for more information from knowledgeable individuals to help me understand not only my current diagnosis, but that of my past, and considerations for the future too. I'm not sure how interested you may be in sharing this story and providing more info. I do hope to learn more from you and to hear your views on what has happened and what may lie ahead.
Thanking you for your time :)
So, if there are any enterprising heme-onc docs out there who can add or subtract from this case please comment. And dear reader, if the menstrual irregularities are as bad as they seem and you are done with having kids the simple solution might be to have a Hysterectomy. The endometrial ablation and/or progesterone therapy might be temporizing (and I don't think you need worry too much about a perforation... the uterus is thick and muscular and this is a rare occurence), but I think you might opt for the definitive. Best of luck and let us know what happens!
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