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Unable to diagnose - Feeling helpless!
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Unable to diagnose - Feeling helpless!

My 25 year old sister has elevated liver enzymes (ALT 294, AST 198). Her ferritin is very elevated at 410 and so is her serum copper at 210. She has a negative past health history and we have no genetic diseases in the family that I'm aware of. In January she began having right upper quadrant abdominal pain and yellow stools so her GI doctor assumed it was gall bladder problems but the ultrasound ruled that out. He then thought she may have hepatitis but lab work was negative. He then threw his hands in the air (literally) and said he doesn't know what is wrong. She doesn't have any jaundice but her liver enzymes continue to be elevated & I'm very worried.

Any thoughts/advice are greatly appreciated!  Thanks!
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Avatar_m_tn
I am not a liver specialist (or a doctor for that matter). I am a cardiac critical care nurse that has a strong interest in the liver (I have read alot concerning the liver). What I have read suggests that elevated ferritin and copper levels are toxic to the liver (among other organs). This needs to be investigated further. Perhaps a skilled gastroeterologist or a hepatologist would be your best bet. Maybe even ask him about "Wilson's disease", which is a metabolic disorder in which serum copper levels are elevated...thus doing damage to the liver.

Whatever the case, she needs to see a specialist that has experience with this type of abnormality. In my best belief, there is hope...being that she is young and if she sees the right doctor. If there was irreversible liver damage, perhaps they could have seen it on the ultrasound. Best of luck, and God speed.
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Avatar_n_tn
CCRN34, thanks for your reply!

I'm an RN too but in orthopedics so I don't know much about the liver (but a lot about  bones) :-)  What you wrote about elevated levels of ferritin & copper being toxic to the liver was very informative. I've been focusing on the liver enzymes and now realize the ferritin & copper levels may be causing the elevated liver enzymes. I had my sister see another GI doctor for a 2nd opinion a week ago. He ordered a 24 hour copper urine & blood work to check for Wilson's disease. Oh, how I hope it's not Wilson's disease...  She also had a nuclear med test done to check the gall bladder further.

Thank you again for the response.
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Avatar_m_tn
Well, it sounds like you all are on the right track. I hope it all works out for the best. Best of luck to you and your sister.
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758338_tn?1235788602
Good morning Lori,

Im very impressed you have taken an active interest in your Sister's health.  Just to mention, "wilson's" has several genetic permutations - and not all forms are as aggressive.  I have a copper retention issue, but my biopsy was just under the threshold for a classic diagnosis.  I treat with zinc, which keeps my copper levels low (but zinc causes nausea - but its better than the consequnces).

At any rate, Wilson's is a treatable and manageable condition.  IF detected early enough and if the variant is a slow progressing one, then your Sis could go on to live a full healthy life with med management. - So, I guess what im saying is that in some circumstances, Wilsons isnt the worst you could ask for.....and the treatment is easier to deal with than the weekly phlebotomizing of hemachromatosis.

Keep us posted

J
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650954_tn?1281314357
I'd like to know if you might know about Ammonia Levels in liver cirrhosis patients. I have been doing some of my own research on this and have possibly come up with some help. I do see a GI doctor who says he's a liver specialist but I think he could help me more. I ask questions and don't get results or any positive answers. However this is what I've come up with as far as my paticular situation with getting admitted to the hospital 31 times since May 2007 with high levels of ammonia. I truely believe that taking L-Ornithine 500mg (Vegetable Cap) once a day could control the protein that I eat. I'm not sure you will answer this and maybe your not sure, but I don't know who else I can ask before I just buy it and start taking it. I checked your answers to questions here and it seems that your knowlegeable so I'm asking your advice...I'm planning to finish all the test for a transplant. My liver is shot. I'm a recovering alcoholic and been sober for nearly 3 years now and 53 years old. These overloads of ammonia are effecting my brain and I worry about my future... Mark
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729009_tn?1237330483
The only med I've heard of for ammonia levels, and therefore the possibility of hepatic encephalopathy, is Lactulose (also Enulose, same thing). It is basically a 'turbo-lax'  (the one I used to take was a thick, sweet, clear liquid) but it does require a doctors prescription.
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800851_tn?1260346702
I have elevated liver enzymes too they ruled out hepatitis which makes me  more nervous because at leas the docs would have known what is was then.  Now I can only hope they go down without taking any action to make them go down :(
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Avatar_m_tn
Hey, brother. Sounds like you have had a rough time of it. Sorry it took so long to respond, I don't get on the internet all that often. I haven't really heard much about L-Ornithine...I have read that it is an amino acid that boosts human growth hormone and can have a positive effect on your immune system and liver health...but I am sure you have read all that as well. It looks, to me, that they are still doing studies on L-Ornithine...and those studies are concluding that this amino acid does aid in the treatment of hepatic encephalopathy. Unfortunately, I can't tell you to take this amino acid or not...as I am not a physician and don't have alot of knowledge concerning L-Ornithine.

However, I do know (as KjFlicka said above) that Lactulose is the "gold standard" in the treatment of elevated ammonia levels and, ultimately, hepatic encephalopathy.

I'm sorry I couldn't give you a better answer. God bless you, brother.
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Avatar_m_tn
Alright...some interesting stuff. I just spoke with a liver transplant specialist, who was rounding on our floor...I tried to keep up with him (he has a Greek accent and speaks really fast...not to mention incredibly intelligent). He says that they generally haven't treated H.E. with L-ornithine as they feel that there are other steps within the urea cycle that they can better address to treat elevated ammonia levels. But he said that it was an "interesting" question.

In addition, he said that they are finding that the "new kid on the block" in the treatment of H.E. is zinc supplementation. He said that they are finding that H.E. can also be attributed (in some cases) to zinc deficiency...and that they are starting to give zinc supplemenation, in addition to lactulose.

Interesting stuff. Funny thing is that he told me I should transfer on over to the liver transplant center.

Anyway, best of luck to you, bro. Hope this helps. If nothing else, it is something to discuss with your doctor. Maybe you should consider seeing a hepatologist...just a thought.
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