I am a 34 year old male who was diaginosed with hemochromatosis only after a liver biopsy because i only have one of the genetic markers. When diaginosed my ferratin was over 5000. Shortly after i was diaginosed with stage 4 cirrhosis of the liver. Is anyone out there in the same boat as me.
I don't know of anyone who got so far as to have cirrhosis of the liver. I would have assumed that it generally occured in people far older than you. Did you have a very high-iron diet while growing up?
Would you mind expanding on the treatment for same, though? It might be helpful to others.
Hey Scott, my husband is in the hospital awaiting a liver biopsy and it seems like he has cirrhosis of the liver and im just wondering what the doctor told you is stage 4 the final stage of the disease and what is the prognosis and treatment your getting..
Yes it is rare for some one of my age to get this far without being diagnosed. As a kid I ate a farmers diet of meat and potatoes. The treatment is phylobotymes, or blood draw. They where draining me once a week for 1.5 years. Now it is every 2 months.
Since my cirrhosis is not caused by alcohol , drugs, or hep-C I qualify for a liver transplant. If your husbands cirrhosis was caused by any of the above he my not be eligible for a transplant. The treatment for cirrhosis depends on the stage. Stage one and two can be healed or halted with a change in lifestyle and diet. Stage 3 depending on how advanced my not be treatable with out a transplant. Stage 4 requires a transplant. My wife and I hope all the best with your husbands biopsy.
Hi scott, now I have seen this earlier posting. I had 2 notifications to say that this posting had been deleted. In another blog, I did tell you about Paul Cox, the film producer, who was only told about his HH AFTER he had a liver transplant. Criminal. Surely he was sick enough long before for someone to test his Iron Studies - unless they just did not understand them.
i hope you do not have to wait too long. You must be feeling ghastly.
Hi,
I was diagnosed with HH after having Heart Failure in 2006 aged 24, my Ferritin was 7778 at diagnosis and my specialists were very puzzled at why my level were so high, it turns out I actually had four mutations, I had Type 1/HFE Hemochromatosis (two mutations on the common genetic locations) and two mutations on the Transferrin Receptor 2 Gene, this combination disposed me to very excessive loading of Iron.
In the following months/years I have been diagnosed with Type 1 Diabetes, Hypopituartism/Growth Hormone Deficiency, Hypogonadism (Test Deficiency) and Liver Cirrhosis – Cirrhosis itself having a multitude of secondary conditions.
2.5 years of bi weekly – weekly venesections was my treatment plan plus all the relevant treatment for the other secondary conditions.
I’ve been informed my Cirrhosis is at a Compensated stage however I feel very symptomatic with Chronic Fatigue/Lethargy, significant weight loss, poor memory and concentration, bloating constipation and various other digestive disorders.
It’s been a nightmare, I’m struggling to hold my job which is well paid job in the Financial Risk Sector however the stress that goes with working in my particular role balanced against the cognitive challenges of my Liver Condition can be regularly overwhelming.
I’m a MELD 14 at the moment so no-way near getting a Transplant therefore chances are I’ll have poor quality of life all my adult life until the horrible road to Liver Failure or life threatening conclusion of Liver Cancer.
This condition very often doesn’t have a happy ending.
Scott, how were you diagnosed and what symptoms have you presented with?
The fact that your Iron is that high yet you only have one mutation suggests you may have other mutations at other genetic locations.
Facebook has a UK Hemochromatosis Group which is quite big and very responsive.
Thanks,
Tom
tomironoverload, I was too overwhelmed by what you are going through to respond immediately. Thank you so much for sharing what you are going through. It puts a lot of our symptoms into perspective.
I run a support group for people with HH in Australia and through research, personal experience and those of others, I am learning a lot about it. I recently attended a conference on HH and another gene was alluded to by a couple of speakers which I think they were indicating can make HH worse for some people. Maybe what you have is what they are talking about.
One member of our group told me something about him having another gene but could not explain it, and did not have a copy of his genetic test.
Is there someone in the UK Hemochromatosis Group that knows enough so you can talk to them about it? Have you come across anyone else with the same?
I have passed the body of your email (without identification) off to our research drs with the hope of getting some kind of feedback which I will pass on to you if I do. I don't know what that will achieve, but you know, some feelers spread out, might catch something!
Back in 1998 when I was first diagnosed after suffering severe symptoms for 9 years undiagnosed, I heard about a fellow in the US whose levels were >10,000. He was in the news for setting off airport security alarms. I don't remember hearing anything about other genes but they probably did not know of any others back then.
I don't know how MELD 14 compares with Scott's stage 4, so I hope you and Scott can exchange info.
Medicine is improving at a rapid rate now, so I hope a solution for your problem comes up a lot quicker than you are thinking right now. Keep pushing for it, don't let them give up on you. Same for Scott. Best of luck.
My husband was diagnosed with HH a little over a year ago. Iron was 4053, been getting weekly phlebs since the diagnosis. Both his mother and brother have it as well. My husband had a liver biopsy 2 weeks ago and was diagnosed with stage 4 cirrhosis. We cannot get into liver doctor for another month. We don't know anything else at this point. We are frightened of what is to come. What has been your situation since this post?
Hi Scott I'm also stage 4 non-alcoholic cirrhosis...I did a trial last year which included an MRI this showed both cirrhosis and iron in my liver..however my liver dr's haven't taken this on board they just say they have no evidence of it...I was talking to a friend last night and she said that iron in the liver is a precursor for cirrhosis!!!! It all gets confusing
Hi Sheryly37154 I have hemochromatosis and live in Byron bay Australia. I was interested to read that you run a support group for people with HH in Australia especially as lately I am having quite a few joint problems and am not sure what to do aboyut them. I have regular phlebotomies after being diagnosed with HH 10 years ago and I was accidentally made anaemic a few months ago! I have been avoiding most foods that are known to be high in iron which may have also been a mistake. Lately I feel tired all of the time which is a new symptom. Helen
Hi Scott
i was diagnosed last year with a count of 4365. Since then fortnightly venesections but not always taken due to my platelettes too low. Ihave been fibrosis and cirrosis because of this genetic disorder.
I have now been diagnosed with type 1 diabetes. I gave list a lot of weight and now have to be monitored every 6 months ultra scabs etc and obviously still try and get bloods taken fortnightly.
i just wonder what the next organ in my body is going to be affected. I am still working but for how long I am unsure. I can be confused, emotional and am always sleeping.
I have looked on Facebook but cannot see anything for UK discussions, can you help with other forums you know of.
thanks John
Sorry scabs should be scans, predictive text not good
Hi Helen, I seem to have missed this post. I was going through a terribly exhausing time about then. Actually I had 3 surgeries last year and one of them must have been during that time.
Research says not to avoid foods with high iron (which in reality are not that high as one has to eat a bucket of spinach, for instance, to get the iron one needs) as venesections deal with more than what we can consume, and we still need the iron!!! I have been searching for solutions for fatigue too, even though I have long been deironed (ferritin brought down to 7 at one point!) I still have very short days - have to go to bed early, like 6.30pm latest. Also seem to have a lot of body pain (which can cause fatigue too). My optimal ferritin iron level is about 34. I have never been anaemic, my Hb is always high, as is my TS% and serum iron.
However, I have noticed that I feel a lot better eliminating sugars and starchy foods from my diet - and discovered that we with HH don't digest them very well. Now, whenever I do have any starchy carbs, I have hit by a truck fatigue and go into a slump for a while unable to do anything. This association is so noticeable to me now.
I notice now that the hypothalamus is often mentioned as an organ that is affected by HH, and among other things, it controls fatigue, sleep rhythms, temperature control (my thermostat does not work very well - I often get 'iced' when it is warm and sweat when it is cold).
Research has found that once we end up with arthritic joint pain/damage, it does not go away with venesections. I have managed to keep arthritis in my fingers away by rubbing in pure emu oil right from the beginning - only have a little problem in my right hand indicated by making fist and the fingers don't quite curl up closed. So far, with larger joints, the only answer is ultimately, surgery, unless one catches it early with venesections.
Both my hips broke up though (oesteonecrosis) from delayed diagnosis (9 years), pain in left side chest, heart arrthmia, pituitary gland damage, etc etc. Anyway, that is why I started a support group associated with Haemochromatosis Australia - 25 years after my problems began I found people still having problems getting diagnosed, and/or treated properly.
If you have not become a Haemochromatosis Australia member, I highly recommend it. You will get booklets, very informative quarterly newsletters, and you will be helping them help us.
As I am strongly interested in people's genetic test outcomes, Iron Studies at diagnosis and current levels, how they came to be diagnosed, age, etc., I would be pleased to hear these details from you if you wish to send them to me by private email.
Jdm, check out the Irondisorders dot org website. Lots of information, forms, etc there. Search also for articles from their newsletter - bit hard to find though - just persist.
Good books to search for (maybe library) are Iron Disorders Institute Guide to Hemochromatosis, and The Hemochromatosis Cookbook (not fussed with the recipes) but the information regarding foods and haemochromatosis is very informative.
Google by using the words "hemochromatosis and ........" (whatever organ or condition you want to know about). I use the US spelling of hemochromatosis because there seems to be more information coming from them, although we never hear it mentioned in Dr's tv shows or any celebrity having it.
I hope you do contact your local country's association and try to find a support group near you that you can attend.
I was recently diagnosed with hemochromatisis and stage 4 cirrhosis. I have started the bloodletting but from what the doctor says I am still looking at death in the not so distant future. I, too, am searching for answers.
Tom, I am wondering how you are going these days? I hope things are improving for you.
I had a liver biopsy 20 years ago because of suspected hemochromatosis. My liver was fine so only had two more ultra sounds and no more treatments.
2016 I was having some blood issues as well as elevated liver enzymes (have had since biopsy) so I had several blood tests. On one it said my iron saturation level was at an ALERT level. Remember no treatment for 20 years. Not even a plebotomy. On my own I went to Red Cross and gave blood. My iron level went to half, a second one brought my iron level to normal. In the meantime, my doctor had me get a genetic test for the mutation which came back with only one, not two. Same as you. My blood showed a low platelet count so my doctor recommended an ultra sound. Initially they diagnosed me with cirrhosis as well as numerous small masses indicating metastatic cancer. Further tests showed only cirrhosis, no cancer. So my question is, since you and I seem to have similar situations, did anyone ever wonder about the fact that high levels of iron were flowing through your organs, primarily the liver, and was that a possible cause of the cirrhosis? There isn't a high concentration of iron in my liver so my doctor's are not convinced that this caused the cirrhosis. But doesn't common sense tell you that day after day, year after year of this flowing through your veins wouldn't cause damage? I did drink some, but not excessively, and of course the doctors have latched on to that as the cause. I was also diagnosed with NASH for most of my life which also can be the cause.
i hope you are well and that this helped you.
Fatty liver on its own without any HH genes can cause a high ferritin level. Alcohol certainly does not help. When you say "iron level", do you mean serum iron or ferritin iron? The fact that two donations reduced your "iron level" to normal means it was not an issue. However, donating blood is generally good for you anyway.
Your cirrhosis is caused by some other issue, and fatty liver leads to cirrhosis. Have they told you to stop drinking alcohol altogether? These days they know that apart from alcohol, fatty liver is caused by consuming sugars and starches which store in the liver as fat when it is not used up by marathon racing!!!
The jury is still out on whether or not I actually have hemochromatosis even though my iron level was at ALERT levels. I've had two phlebotomies which seemed to correct the problem. The biggest problem I have is that while testing for this, I had an Ultrasound which showed cirrohsis of the liver. They originally thought I also had liver cancer, but further tests showed that I did not (Whew!) I have a normally functioning liver, all organs are healthy, so I'm more or less in limbo. Just trying to eat right, little or no alcohol, etc. I have a follow up with the doctor in a few weeks and hopefully I'll find out more then.