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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