What is Hemochromatosis
Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number...
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Genetic testing vs. liver biopsy
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Good morning,
I have written a few posts but can't find them now so I"ve started a new topic, I'm just new to the forum and still trying to figure things out....maybe its my "brain fog" :-) To make a long story short, I have been suffering joint and muscle pain/soreness for over 4 months now and had gone in to the doctors about a month after this started. The blood work we did came back with a Ferritin level in the high 500's. There was also a red flag on my AST and the other A??. Anyway I was called back to do more extensive tests on the liver and the doctor said that if these tests come back indicating HH that we would then do a liver biopsy. I mentioned to the doctor that with all of the research I've been doing, apparently a liver biopsy is not necessary and that the genetic tests would tell us if I had it or not. I said that invasive surgery is not an option for me if this was the case. He then admitted to me that the genetic testing was expensive and thats why they opt for the biopsy. I am not impressed and very happy I have done my homework, hence I have now given blood for the genetic tests. I can understand if there are other underlying problems to have a biopsy, I just don't think they should be digging around in peoples bodies if a blood test will suffice. Anyway just thought I would throw that out there in case anyone else is in this situation. Have a good day all:-) Oh and Gidget, I can't seem to find my old posts ...will try you online later:-) Ann Posted on 10/06/09, 09:10 am |
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Hi, Ann
I'm sorry to hear about your bad experience. You're strong and you'll fight through it. My understanding is that the genetic test and the liver biopsy serve completely different functions, and that one wouldn't be used as a substitute for the other. The genetic test determines whether you have hereditary (aka "primary") hemochromatosis. If you don't, they would likely do further research to determine why your ferritin levels are high. The biopsy tests for liver damage. There are blood tests that can provide an indication of liver damage, but the biopsy is more conclusive. HH patients are often given a biopsy because the condition can cause liver damage. 
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Hi Hemaboy,
Thanks so much for your reply and yes I agree on getting a biopsy to rule out liver damage. I just don't agree with them wanting to skip a step to cut down on costs, if there is no emergency to do a biopsy, then I don't see the need to push it. Anyway it all worked out and I'm happy that I asked the appropriate questions. Will update the forum when I get my results....thanks again for the info (any input helps) and have a wonderful day:-) Ann
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Hi Ann. My AST and ALT were also elevated and my ferritin was 2400+. I had the genetic test and determined I have HH. I then started Phlebotomies for twelve months weekly. We kept track of my liver function through the AST and ALT and when they came back down to normal I then had a liver ultrasound to determine there was no long term damage to my liver. Now if you do not have HH then get the biopsy for sure. If you do have HH and you get the biopsy you will still half to have phlebotomies to get the iron out of the liver and the rest of your body regardless. I cannot see how the genetic tests can cost more than a liver biopsy. We all here have had the genetic test it is not that expensive. Some even do the tests on thier own through private labs. Now if you have a good insurance and the biopsy will make you feel better than get it, it certainly won't hurt. But as Hemaboy says the liver biopsy will not tell you if you have HH. Let us no how you are doing and you can send me a message anytime, especially if you get the genetic test.
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Hi Gidget!
Thank you for your reply and again nice to meet you (now that I have located you:-) As I am in the early stages of blood work. this last draw I had the other day was for a liver panel. He then said when those results come back and they indicate more prevalent signs of HH then he would order the biopsy...totally eliminating the genetic testing. I had to bring that up, then he told me about the expense and said he would put it on the blood work request and see what the lab people said. When I got into the lab the girl had to to some calling to see if they would do it and what the procedure was, so it was evident that this wasn't done often or at all. Anyway as i said in my earlier post it all worked out, I'm just happy I said something:-) Insurance isn't an issue as I am in Canada and covered by BC health, my biggest worry is liver damage so I'm hoping things work out there. Will keep you posted on how things go.....thanks again and have yourself a wonderful day!:-) Ann
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I am fairly new to this HH thing diagnosed at 47.
The old protocol: High iron/ferritin levels and elevated liver enzymes (AST and ALT), TSAT meant liver biopsy to determine HH and/or liver function. Your doctor may be cautious. How high were your liver enzymes? Liver biopsy used to be the only way to check for HH before the genetic test. The genetic test wasn't available until 1996. The genetic test doesn't tell the doctor anything about the liver itself. The blood tests tell the doctor that something isn't right but the liver biopsy is the most definitive test since a piece of your liver is actually examined and tested. The present day protocol is: ferritin levels below 1000 and normal liver functions, no biopsy, just an ultrasound. I have this on the authority of a Hematologist/Onocologist. He hasn't ordered my ultrasound yet. I am on the 3rd phelebotomy-free week. Whew! I will be retested in 1 week to see how much I have acculmulated. I am still controlling my diet and exercising more. I may or may not need another phlebotomy, it all depends on how much iron my body absorbs.
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I was diagnosed mid- March, ferritin was at 4100, AST,ALT were high.
Doctor figured I had HH when she first saw me, because of my skin color. She said it had what they call bronzing look. They did lots of tests,genetic test for one. She also did liver biopsy, I do have cirrhosis, cant tell how bad. Other functions doing ok . I think getting all tests are worth it. Avoid red meats, have not had steak,burger since march. Also no alcohol that also increases iron absortion. Hope all goes well
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Hi Solidiron and Sueshue, thank you both for your input and sorry to hear of your diagnosis' . I had a recall on my blood work again but not sure if it was for the liver panel tests, the genetic test or the ANA test that they did around 3.5 weeks ago (they said the ANA takes about a month). Anyway I guess it isn't urgent because I had to book an appt. The waiting has got to be the most difficult part of this whole thing and I'm sure you all can relate. Whats making me crazy as well is the doctor that originally consulted with on this is away a lot so I end up with another doctor, their opinions differ so I get confused as to what to believe. This forum has been so much help in clarifying some things. If these tests reveal that I don't have HH, I've got to say I sure have learned a lot about the disorder:-)
Oh and one more thing, this all started out with extreme muscle soreness and the doctor says that some inflammatory conditions can cause elevated Ferritin, AST and ALT.....something I wasn't aware of so I could be up against so many things. Will check in Thursday after a talk with the doctor. Thanks again:-)
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Hi Ann,
I had a liver biopsy because HH was suspected and the genetic test was not yet available (late 1993). At that time, the biopsy was still considered 'the gold standard' for discovery. Some cirrhosis was found but the results did not quantify as to how extensive it was. While in the clinic, I was fed two units of plasma and had an allergic reaction to the second, which really scared me, and the nurse. Minor, but still invasive. The results got me started on the aggressive phlebotomies, which have probably saved my life, but I'd rather avoid any surgical procedure if there is an alternative method of discovery. As GidgetD mentioned, if you get the genetic test and find you are HH, then phlebotomies are the answer. Avoiding alcohol and other things that will stress your liver will help. Periodic liver panels, and perhaps an occasional ultrasound are a good way to monitor the health of your liver. It truly is the 'heroic organ'. I'm now sixteen years into this process and keep my ferritin under 30. Still kicking and ornery as ever. Best of luck, John
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Hi John,
Thank you for your reply and good to hear you are managing this disorder. I am speaking with the doctor today via phone in regards to my last blood works recall. I'm not sure which tests he's going to be talking about but I'm thinking its the ANA as the genetic tests take a some time and I only had the blood work done about a week and a half ago. I'm not sure whats entailed in the ANA tests but I believe its to rule out any inflammatory conditions. I am extremely concerned for my liver as I have a history of alcohol abuse (I have since quit drinking). I realize I have no one else to blame but myself for that but if I have HH its a double whammy....I have my fingers crossed. Will update the forum after I speak with the doc today. Thanks again for your input:-) Ann
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Hi all,
The doc called (not my original doctor as he is away). He said he received the results from the ANA test and the liver panel. The ANA didn't suggest anything inflammatory going on. The liver panel showed my Ferritin at 357 which is down since the last test about a month ago where it was around 570. My iron saturation is at 0.76% which he said is high and my AST and ALT have come down since the last blood work results. So......I'm confused and thinking of getting a second opinion, in fact I'm going to make some calls this afternoon. I don't make a habit of bashing doctors but I am not this doctors patient and he doesn't seem to empathetic to my situation. My numbers are obviously off for a reason and this muscle/joint soreness isn't going away. The way I look at it is my Ferritin and saturation levels are still high. This doctor that I spoke with today says that these numbers are not consistent with HH.....how can he say that when the genetic tests haven't come back yet? Frustrated? Oh ya! Thanks for listening.....any input on my results would be super appreciated, thank you:-) Ann
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