Suspected Hemochromatosis and Possible Wilson's Disease
I'm starting a journal in the hope it might help me keep track of my symptoms, manage them better and become more self-aware. I'm also eager to learn as much as possible about Hemochromatosis so I'd love to hear from others who have the disorder - please feel free to share your stories, advice and any thoughts you might have on my blood test results! It's also possible I might have Wilson's disease, so any information on that too, would be much appreciated. I've done a lot of reading on both, but as yet, haven't spoken with any fellow sufferers, so I'm keen to meet you all!
Well I guess I should start with a bit of background. After my blood tests last October came back showing high ferritin (524 ug/L), and liver enzymes were raised (GGT 66) my GP ordered further tests to investigate. Tests in November were as follows:
Fasting Blood Test
Serum Iron Level: 45 umol/L (above reference range)
Transferrin Saturation Index: 100% (above reference range)
Serum Ferritin Level: 591 ug/L (above reference range)
Mean Cell Volume: 101.2 fL (just over reference range)
Mean Cell Haemoglobin Level: 34 pg (above reference range)
Serum Caeruloplasmin Level: 0.14 (below reference range)
GP referral to Hepatologist due to abnormal results. Consultant request for further blood tests (suspected Hemochromatosis and 24 hr Urine test for Wilson's Disease) in January 2014. Results as follows:
Fasting Blood Test
Total Bilirubin: 23
GGT: 64
Serum Ferritin: 650
White Cells: 4.23
Mean Haemoglobin: 33.1
Neutrophils AB: 2.25
Lymphocytes AB: 1.49
HFE Gene Test: Awaiting Results
24hr Urine Copper Test: Awaiting Results
Test results discussed at appointment with Hepatologist (24/01/2014). Advised to abstain from alcohol for 6 weeks and repeat liver tests to see if liver enymes (GGT) have reduce to normal levels. If still high after 6 weeks liver biopsy required. If HFE gene test positive, venesection to be started straight away. If 24hr copper test abnormal, further tests for Wilson's Disease required.
General Symptoms (varying)
Fatigue
Low energy
Aches/stiffness in muscles and joints
Cracking/popping in joints
Sleep problems (falling asleep and morning/afternoon fatigue)
Mood Swings
Anxiety
Brain fog
Short-term memory problems
Difficulty Finding/remembering certain words when talking
Rash with facial flushing over cheeks and nose
Tuesday 28/01/2014
Woke up with the usual cracking bones, and feel extremely tired today with a foggy head. It's been an emotional afternoon feeling irritable and tearful, so not much fun! I'd normally just describe today as "one of those days" with small annoying things going wrong, but I haven't been able to control my emotions very well so have felt rather overwhelmed. It could be PMT that's making me feel so emotional on top of already feeling like crap. I had to walk to the local shops to get some shopping and although I only had two not very heavy bags to bring back, my arms were aching quite badly carrying them. The sharp pain in my right knee was back too each time I put weight on it... I forgot to mention that one to the Hepatologist (note to self!) I've calmed down a bit now, so thought I'd do something productive and start writing this journal. I'm battling with an uncomfortable feeling of tiredness all around my eyes and I've noticed the rash on my face is rearing it's ugly head! I remember a similar pattern a few weeks ago, feeling extreme tiredness in the days leading up to the last rash break out. I thought it might be Rosacia, but I'm not sure you get tiredness as well with that? Must do a bit more research.
That's about it for now, going to try and do a bit of work for my online Forensic Science course if I can concentrate for that long! :-)
Well I guess I should start with a bit of background. After my blood tests last October came back showing high ferritin (524 ug/L), and liver enzymes were raised (GGT 66) my GP ordered further tests to investigate. Tests in November were as follows:
Fasting Blood Test
Serum Iron Level: 45 umol/L (above reference range)
Transferrin Saturation Index: 100% (above reference range)
Serum Ferritin Level: 591 ug/L (above reference range)
Mean Cell Volume: 101.2 fL (just over reference range)
Mean Cell Haemoglobin Level: 34 pg (above reference range)
Serum Caeruloplasmin Level: 0.14 (below reference range)
GP referral to Hepatologist due to abnormal results. Consultant request for further blood tests (suspected Hemochromatosis and 24 hr Urine test for Wilson's Disease) in January 2014. Results as follows:
Fasting Blood Test
Total Bilirubin: 23
GGT: 64
Serum Ferritin: 650
White Cells: 4.23
Mean Haemoglobin: 33.1
Neutrophils AB: 2.25
Lymphocytes AB: 1.49
HFE Gene Test: Awaiting Results
24hr Urine Copper Test: Awaiting Results
Test results discussed at appointment with Hepatologist (24/01/2014). Advised to abstain from alcohol for 6 weeks and repeat liver tests to see if liver enymes (GGT) have reduce to normal levels. If still high after 6 weeks liver biopsy required. If HFE gene test positive, venesection to be started straight away. If 24hr copper test abnormal, further tests for Wilson's Disease required.
General Symptoms (varying)
Fatigue
Low energy
Aches/stiffness in muscles and joints
Cracking/popping in joints
Sleep problems (falling asleep and morning/afternoon fatigue)
Mood Swings
Anxiety
Brain fog
Short-term memory problems
Difficulty Finding/remembering certain words when talking
Rash with facial flushing over cheeks and nose
Tuesday 28/01/2014
Woke up with the usual cracking bones, and feel extremely tired today with a foggy head. It's been an emotional afternoon feeling irritable and tearful, so not much fun! I'd normally just describe today as "one of those days" with small annoying things going wrong, but I haven't been able to control my emotions very well so have felt rather overwhelmed. It could be PMT that's making me feel so emotional on top of already feeling like crap. I had to walk to the local shops to get some shopping and although I only had two not very heavy bags to bring back, my arms were aching quite badly carrying them. The sharp pain in my right knee was back too each time I put weight on it... I forgot to mention that one to the Hepatologist (note to self!) I've calmed down a bit now, so thought I'd do something productive and start writing this journal. I'm battling with an uncomfortable feeling of tiredness all around my eyes and I've noticed the rash on my face is rearing it's ugly head! I remember a similar pattern a few weeks ago, feeling extreme tiredness in the days leading up to the last rash break out. I thought it might be Rosacia, but I'm not sure you get tiredness as well with that? Must do a bit more research.
That's about it for now, going to try and do a bit of work for my online Forensic Science course if I can concentrate for that long! :-)
Replies
Hi Jenny I was diagnosed in December 2013 after 2 years of blood tests etc.
I have started my weekly venesections and will have my 3rd on Wednesday 29/01/2014. My levels were / are very similar to yours and I have had most if not all of your symptoms, I have started a discussion on this site to keep track of how my blood venesections are going and how they affect me.
For a couple of years I have had a really sore left hi/lower back, I did not mention this to my doctor as I thought that it was probably my age and also that I had been to see them so much over the recent couple of years that I could not mention something else.
However it was getting so bad that it was affecting my walking and was like toothache also putting on my left sock was becoming increasingly difficult.
After my liver specialist wanted to leave treatment for me for another year or until my ferritin had reached 1000 I insisted on seeing a haematologist, she was totally different and understood all my symptoms and said that my MRI scan had shown that I have iron in my liver and that she wanted me to start giving blood the following week, and that I would begin to feel better very quickly.
So far I have had 2 sessions and already my hip pain has virtually gone, I am walking better and I can put my sock on without as much trouble.
My brain fog seems to be lifting and my wife says that it is like having the old Steve back....
Good luck with the genetic test, but I think that from your symptoms you sound very much like me. If you are diagnosed insist on starting treatment as the sooner you start the less damage this disease will cause to you.
An interesting thing that I did was to go through the reasons for my visits to my doctor over the last couple of years and for which they could never find a cause of my problems, and its like a list of HH symptoms, so now I know what caused the problems and that it was not in my head as some people were thinking it was.
All the best
Steve
Hi Steve,
Thanks for sharing your story. I\'m pleased to hear the venesections are helping your symptoms. It sounds like the liver \"specialist\" wasn\'t such a specialist if he/she wanted you to wait for your ferritin to rise even further! 1000 seems to be the magic number for venesections, as my hepatologist mentioned that is usually the stage when treatment begins. However he has said he will be happy for me to start treatment straight away if my gene test result is positive. He did also say that inflammation can cause ferritin levels to rise, so until I get the results (hopefully a week on Friday) I can say for sure what will happen.
I also suffer quite badly with back pain. I\'m usually ok in the mornings unless I\'ve overdone it the previous day, but I\'m getting it most evenings now in my upper to middle back area. Today it was all over though with sharper pains in my lower back along with the back ache, but it\'s not been a good day generally. Hopefully tomorrow will be better, and I can get a bit more done!
One thing that is troubling me is my difficulty with forgetting words when I\'m talking... it\'s becoming quite obvious when I\'m chatting to people, and I already suffer with social anxiety so could do without this adding to it!
Oh, and do/did you take painkillers for your aches and pains? I know they are heavy on your liver, so I wondered if you\'d been advised on which ones are kinder to the organs...
Glad to hear your wife is getting the old Steve back! It must be hard on those around us too. I can feel myself getting lost in all these symptoms and it makes you want to withdraw.
I look forward to hearing how your treatment goes - good luck for tomorrow!