Discussions By Condition: Medical Stories

Please Help-I'm Scared

Posted In: Medical Stories 3 Replies
  • Posted By: westiegrl25
  • April 14, 2007
  • 03:55 AM

Hi Everyone! This is my first time posting but I just can't seem to get a diganosis. I have an Extremely Rare genetic condition called Lysinuric Protein Intolerance-there are only 7 of us in the US. For the last 15 years my LPI has been fine and still is despite all that has happened. So, I guess I should start at the beginning...
2 years ago I had an episode of massive hematuria (nephrotic episode) that was misdiagnosed as a kidney infection and caused numerous petechiae on my feet. Since then my creatinine has jumped between 1.0 all the way to 1.5. A kidney biopsy revealed mild kidney disease. I have had problems with concentration not even being to read one page in a book-a problem since I was in grad school at the time. I had extreme fatigue, joint pain, fevers, dizziness, intermittant Malar rash and splinter hemorrhages under my fingrenails. I was tested for every possible illness-nothing came up. In January '06 I came down with a lung infection that caused a massive flare I was in so much pain I ended up in the hospital for a weak. During that stay they tested my D-dimer and it was 3,000 (normal is 100). By February '06 it was up to 7,000 and I was placed in the hospital to try and bring it down. During that 2 week stay I lost all appetite, could barely get out of bed, and finally I started urinating what I thought was blood (later determined to be muscle breakdown eventhough CPK was normal). From that point on my D-dimer has been greater than 10,000 with the latest result being 20,000 in March. I was started on treatment for a "Lupus-Like Illness", b/c my ANA has remained negative, which resolved most of the joint pain, dizziness and concentration problems. By January of this year I hadn't gotten any energy back and had to drop out of grad school. So, I saw the head Vascular doctor at Cleaveland Clinic and he has concluded that I'm living in "Low Grade Disseminated Intravascular Coagulation". Yet, won't treat it he says we should just wait until a clot forms or my platelets drop too low (which they are barely adequate as is).

Why I'm scared now is that I have started spontaneously Bruising all over my body the worst being Purpura even though I did nothing to cause them. I saw my hematologist and everything was adequate as usual but had no clue what all this could mean. Now the last few days I have been feeling Lightheaded like I'm going to pass out all the time. My blood sugar and pressure are both fine. Could this be the DIC? I'm just scared about forming a clot and dying. I'm not sure which is worse that fear or the fact that I have to take a nap after I take a shower. Does anyone have any clue what could be wrong with me or the name of someone willing to get involved in a case as complex and rare as mine? Thanks everyone for your time and help! :rolleyes:

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3 Replies:

  • westiegirl, sorry to hear about your situation. It's perfectly natural to be concerned, especially since doctors are apparently clueless. What you describe with the urine situation appears to be Rhabdomyolysis, however the normal CPK is contradicting. Did the hospital do any testing for renal functioning, and especially myoglobin? Myoglobin isn't usually tested but can be a better diagnosis, you might want to have it tested now (in your urine and your blood).With respect to your LPI issue, I know you said it's been fine for all these years but do you try to keep a low protein diet? Considering how rare the condition is, are you sure the doctors treating you/monitoring it are actually sure what they are suppose to be testing? Have you had a creatinine clearance test (it involves a 24 hour urine sample)?In regards to your current issue, I suggest you consult with an oncologist: acute promyelocytic leukemia presents many of the symptoms you are describing, especially the easy brusing issue. Do some searching on the internet if necessairy. If you did have this type of cancer, there is an extremely high rate of remission (over 90%) but its important you get it checked out now.
    Anonymous 42789 Replies Flag this Response
  • Oh they have tested all of that involving renal issues. As far as the LPI goes I have even seen the top LPI doctors in the world to make sure it was not it causing the problems. Their conclusion was that the LPI was in check and they had no clue what was going on. I am a vegetarian by nature since most proteins make me very sick but I'm also on a low fat diet because I have high tryglicerides (there are back to normal now). That goes along with the LPI so nothing to be concerned about there. As far as APL goes wouldn't that cause problems to show up with my WBC's and RBC's? My main problem is that all my labs that are messed up except for the ones that are supposed to be b/c of the LPI all contradict themselves. My antithyroid antibodies are high even though my thyroid levels are fine. Sometimes my antiphosphotydal IgM is high which is why I'm on low-dose asprin. Yes I know that can cause bruising but everything I read about it says that you do something to cause the bruise like bump into a table. My problems is I'm breaking out in bruises all over my body the worst being purpura without doing anything to cause it. They have screened me for all types of cancer in the past can APL be hard to detect? My body just has a weird way of projecting its problems I guess. Any thoughts on the lightheadedness?Thanks again for your help!
    westiegrl25 1 Replies Flag this Response
  • Hi again Westiegrl,>Oh they have tested all of that involving renal issues. As far as the LPI goes >I have even seen the top LPI doctors in the world to make sure it was not it Oh! Well in that case it's most likely not responsible for the problem. I wasn't sure if you were just going on what local doctors said. >I am a vegetarian by nature since most proteins make me very sick but I'm Do you take any multivitamins or suppliments? I'm wondering if there might be some kind of minetal deficency or something from the vegetarian diet, but probably not. One of the users on this website has extensive postings on Vitamin-B deficency which doctors seemingly never check for, so it made me think there could be something significant that the doctors just haven't tested because they don't think it would ever cause the reaction you're having. >As far as APL goes wouldn't that cause problems to show up with my WBC's It should, yes. Any type of lukemia would normally cause significant WBC related issues so if yours are perfectly normal then chances are it is not that. I didn't mean to get you worried about cancer BTW, but the brusing issue made me think of it in addition to your other symptoms. From a pathological view, many of your symptons are related. The purpura issue, for example, can be caused by a platlet disorder known as idiopathic thrombocytopenic purpura, or by a coagulation disorder like disseminated intravascular coagulation (which you mentioned being semi-diagnosed with already). ITP in particular can be caused by lukemia (as can DIC) which is why I raised the possibility of APL. ITP can also be caused by a variety of other diseases including Lupis. Purpura can also be caused by a condition known as Henoch–Schönlein Purpura which usually follows an illness. (It is sometimes referred to as Anaphylactoid purpura). This may very well have been what you experienced 2 years ago, as in some instances, it causes a nephritic episode. You had a kidney biopsy-was this condition consider in a differential diagnosis? Are you able to get the biopsy slides and have a pathologist re-examine them for this particular condition? Did your heamotologist check for IgA nephropathy (sometimes called Berger's Disease)?Honestly I'm not that familiar with lupus; you would probably get far more helpful advice on the lupus board. As I understand it, sometimes people test negative for lupus their entire life yet can still have the disease. The malar rash you mentioned is most commonly associated with lupus, as is the fatigue/lightheadedness. Even the brusing issue and skin problems might actually be related. Would you mind posting the results of the blood tests you had recently?
    Anonymous 42789 Replies Flag this Response
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