by Biologist » Tue May 05, 2009 6:35 pm
Gotts,
I watched an episode of "Mystery Diagnosis" on TV recently. Doctors try to figure out -- usually in a real hurry -- why a patient is sick (and about to "buy the farm"/"kick the bucket"). A high school girl, who is a soccer player, had a bout of major debilitating muscle pain and stiffness during a practice session or game, where she had not eaten for several hours prior to the event. She ended up in the ICU with some super nasty life-threatening symptoms. Many of us on this website could have quickly enlightened the (initially) clueless doctors about her condition. Here was the key for me (and us) where the doctors initially missed the significance: Her urine had suddenly turned very dark at the hospital.
Test question: What's her pathology?
The Answer follows in this post.
By the sound of it, your muscle issues could be genetic and triggered by statins. I would suggest you call Cathy Kern at 716-829-2695. She is screening participants for Dr. Georgirene D. Valdutiu, PhD, principal Investigator for the "Statin Study" at the University of Buffalo. I have spoken with her on the phone. She is real nice, and informative. I may participate myself (while I may not, since I have likely determined the cause of my acute statin attack from the medical literature which indicates it was was triggered by high intensity exercise and a simultaneous course of a tetracycline-class drug along with Zocor -- a combination of which would have brought down a full grown Angus Bull). The study is ongoing and will be for some time (i.e. many months). It is free for you as they will reimburse the cost of you having blood drawn and sending it to them, and they will first send you an information package on the whole deal in the mail at your request. Several people on this forum are participating. If you have positive results, you will be notified. In your case, knowing what the issue is may be real important. They may have the answer for you.
One of the three genetically-orientated (and perhaps "statin triggered") myopathies (i.e., muscle diseases) they are testing for is called "Carnitine PalmitoylTransferase (CPT) II Deficiency.
Answer to the Mystery Diagnosis: Rhabdomyolysis (i.e., massive muscle cell breakdown)
The cellular destruction was necessary to supply the teenaged student's/athlete's body's intense cellular food/energy requirements since she could not feed her cells with her cellular fat reserves (due to a genetic condition) and she had already depleted cellular glycogen (which is the body's cellular storage form of glucose) supplies. She was about to shut down her cellular-debris-clogged kidneys due to her condition which was only unveiled via her extreme physical exertion on an empty stomach.
Her genetic condition?
Carnitine PalmitoylTransferase (CPT) II deficiency
Biologist
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BTW, in this thread I mentioned Neoglucogenesis. The more popular (and apparently more correct) term is Gluconeogenesis. And also I suggested that it involves the conversion of fat (in addition to protein) to glucose. At this point I would tend to remove "fat" from that sentence. There are many more references to "protein only" explanations for the conversion. And is this mechanism, in its "runaway form", associated with rhabdomyolysis? Sure. I think so.