MRI scan (Ferroscan ®) or liver biopsy or neither

The medical profession has in general, with the exception of gastroenterologists, moved on from only diagnosising HH via the liver. Iron overload does not go straight to the liver in everyone. I was undiagnosed for 9 years and had severe HH symptoms without my liver being damaged or iron loaded. Instead it went straight to my hips (had to have both hips replaced) and my heart.

Despite having a confirmed genetic test, my husband was referred to a gastroenterologist who was not interested in the genetic test results and said "you do not have haemochromatosis unless I say so". We declined the biopsy the gastroenterologist said he had to have.

At one time, that was the only way that HH could be diagnosed, and the gastroenterologists claimed HH as theirs. Actually they could diagnose Haemochromatosis in the liver (only) but not Hereditary Haemochromatosis when you think about it.

HH is not about just the liver. If I had to, it would definitely be an MRI. Why damage an organ any further if there is already liver damage. They do not even check what is where they are going to stick the biopsy needle.

I was very concerned about iron deposits in my heart. I finally got onto a cardiologist who accepted that iron can load into the heart and it is now possible to have a special MRI of the heart (not available earlier because the heart moves). The wisest advice I was given was, even if there was evidence of iron deposits in the heart, the only treatment is venesections. They cannot drain it, cut it out, etc.

Because I was extremely curious about it, I paid the cost of the heart MRI. Yes, iron deposits - but what can anyone do about it? Just keep up those venesections and never let one slip by.

So this is not a direct answer to your question, Clay, I have had no experience regarding having iron deposits measured in the liver but it is relative. As you say, at this stage it really is only a research tool, for someone to say they measured 225 livers and so many had this much, and this much, and so on. They will get into knots about it though, because there seems to be no rhyme nor reason about who gets what at what level, and why. Not knocking it - the more research the better it is for us in the long run.

Hey ClayF1965,

First, Sheryl is awesome.

Second, when I was originally being told that I might have haemochromatosis the resident that was at my family clinic did tell me that a way to diagnose it was by liver biopsy. He actually terrified me because as soon as he said that my iron had been steadily high for a good few months, what he basically said to me was this:

"We're going to need to do a liver biopsy."

"So we're going to stick a big needle in your liver and that's the only way it can be diagnosed."

"You can get liver cancer."

"You can't have babies."

And Jesus Christ, he scared the crap out of me. But then my actual doctor talked to me and she said that she was going to refer me to a Haemo specialist out of the U of A Hospital in Edmonton because it had been high for six months.

That specialist told me that no, I do not need to have a liver biopsy and there are other ways to diagnose it (part of the reason I didn't need it was because of my age - I was 21 when I was diagnosed and I'm 24 now. There was zero reason for me to go through something like a biopsy which could lead to complications when there is so medical reason, in part due to my age, to get in there, other than to just "double check."). So all I had done were different kinds of blood tests. So far as I know, unless you're of a certain age where a lot of damage could have been done to you, that's all that needs to be done in order to get a diagnosis.

She also, by the way, told me that due to my age and me getting regular phlebotomies (that's funny that apparently Canada is the only place it's called a phlebotomy) or venesections, that iron overload will not decrease my chance of having children and it will not shorten my lifespan. It's incredibly frustrating that that resident scared the hell out of me for no reason. What doctor tells a 21 year old girl that she can't have babies??

Anyways. That was off topic - but it's something that I just remembered.

I haven't actually met anyone who's had to go through a liver biopsy or MRI anything like that. The closest I had, and it's not even close at all, is an EKG to make sure my heart was fine. But Sheryl is right, even by doing that all they can do is go, "oh shoot, look at that iron just sitting there." Nothing can really be done about it other than getting phlebotomies. So to be honest, I don't see the point a lot of the time, again, unless you're of a certain age and they need to know for certain how damaged your organs are.

At least that's what my specialist advised.

Apparently I've made a weird smiley face.

That was unintentional but at least it's kinda cute.

Hello Ladies,

very much take your point that MRI and liver biopsy will demonstate liver iron - and in that respect not so helpful

However the principal reason for either test is to assess liver fibrosis (as a precursor to cirrhosis) and indeed to see if the liver is cirrhosed already. You really can't assess these factors on a blood test, and indeed I asked my hepatologist if you could have cirrhosis with a normal liver function blood test - and yes you can, if the liver is so scarred / cirrhosed. That fact (pre-assessment by MRI or biospy) was rather chilling.

The point of my question really was to see how much liver assessments were being done or whether there was a reliance on gene testing and ferritins to make a HH diagnosis. That in itself is not unreasonable these days, as liver biopsy is not a walk in the proverbial park, and not without risk. However my ferritin was pretty high and above the UK threshhold for concern about cirrhosis so it was done as the gold standard test. However MRI these days should in the right hands be good enough to assess liver iron without the needle risks! Somehow I ended up with both tests, which happily has been doubly reassuring.

So was just wondering about MRI assessments in general. Was partic interested in SQUID which is a super dooper MRI (my understanding is there are 2 scanners in the world - probably in North America?) and if anyone had had this.

Hey Megan I was at work when I was reading your post earlier and forgot to add an explanation to your query about venesection / phlebotomy.

It's a matter of etymology - phlebotomy has Greek as its origin and venesection comes from Latin. However they both quite literally mean the same - cutting open of a blood vessel.

We (UK) tend to use phlebotomy to describe taking a blood sample like one might for a liver function test or a blood count. We refer to the person who undertakes that as a phlebotomist. Mind you most people would just say they are having a blood test, and probably refer to that person doing it as a nurse, though they aren't always.

I am not sure what term is used in Europe - I guess perhaps depends on the language?

English however being such a mish mash of linguistic influences it is perhaps no surprise we have different words for pretty much the same thing.

I think feel free to use whatever you are familiar with - I think we will all get the idea even if the language seems less familiar.

Best wishes

CF

Hi all,

Oops, apology to anyone going to look up Ferroscan. I think what I really meant to say was Fibroscan. I think Ferroscan is something to do with iron detection in an industrial setting.

My mistake.

Anyway point is that the MRI is looking for fibrosis / scarring / cirrhosis of the liver.

Seems not many people have had this? Am then just wondering how folk know if they have any liver damage from HH? Do their doctors just base this on liver function tests? I have been told you can have normal liver bloods even in a really quite scarred liver.

Any thoughts or opinions?

Regards

CF

Hi,

Now I seem to be tying myself in knots, seems I was on the right track, but what I meant was Ferriscan, which detects liver iron.

Certainly it was the liver iron stuff I was trying to look at, rather than the fibrosis, though clearly both are important.

Apologies

CF

Clay, I will check with some specialists when I can and get back to you what I can find out. I have had a special MRI of heart and liver looking for iron deposits, but no sign on liver (the liver check was a bonus as I was really only interested in the heart deposits). It costs though where I live and no rebates. Annual CT scans of my abdomen can pick up what you are talking about, but mine are clear so far. As are my LFTs. I have seen scans of livers that are not good - there is a difference.

I knew you meant Ferriscan as I checked with the company that does it years ago and felt it was an unnecessary expense, just to measure iron present. I have also seen reference to SQUID too but I did not follow through with it. As the MRI of the heart was a very new development, maybe it was SQUID but it was not referred to in that way.

Fatty livers and minor liver damage can be asymptomatic but there are generally signs in LFTs. So it can sneek up on people who are not being monitored, which they should be if they have HH. I have also seen copies of those LFTs, and some people's results are like neon flashing lights on a Las Vegas strip but theperson is not feeling 'off' at all.

Strange, isn't it?

Indeed strange, Sheryl.

Just by way of interest what heart symptoms were you getting, and perhaps still do?

I don't think I get heart 'problems' as such, I have a normal ECG, but I occasionally get what have been referred to as ventricular ectopics (" don't worry about them, Clay". - mind you that was before the HH diagnosis).

However I am very aware that my heart is much more sensitive to stimulants such as caffeine, chocolate, strong cheese - it doesn't go fast or irregular, but the force of my heart is stronger- not sure that makes sense, but I am certainly more aware of it and will keep me awake at night if I do have such foods. Equally seems to affect my brain, stimulants seem to be more 'stimulating', but really not in a good way, just makes me feel agitated and anxious.

So often I don't know that this isn't all in my mind, that incidental symptoms are in some way linked to HH and in other circumstances I would not give them any thought.

Anyway I am pretty sure the NHS is not going to offer me a cardiac MRI, and not sure that is necessary in any event. As you say you look for iron, you find iron, and the answer is continue with venesection!

Best wishes

CF

Keeping in mind that my gp took 9 years to diagnose me after a hysterectomy from which time, in restrospect, I was iron loading severely, the 12 months before I was diagnosed included constant chest pain radiating left from the centre of my chest. My heart felt swollen and inflamed.

I was referred to a cardiologist who found nothing, but when I told him I have just been diagnosed with HH, he had the bright idea of doing an angiogram. While I did not think that was necessary, I was still learning about HH, I agreed. Of course, nothing as Iron does not block arteries, but it does the finer capilliaries in the muscle.

After diagnosis and venesections, the pain subsided. Whenever my fe levels increase, I get the same chest pain until I have a venesection. Then one day an endocrinologist actually listened to my heart and was very alarmed at the rate of my heart beat - off to another cardiologist this time. 24 hr holter showed 21,000 extra heart beats in 24 hrs and I could not feel it. Later on a more expert cardiologist told me that most people do not feel 'real' arrythmia.

However, as the medication I was given, beta blockers, nearly snuffed my brain by dilating the blood vessels and letting in the iron particles (my iron levels turned out to be particularly high at the same time), I refused to take them any further (still suffering from that damage), and bought a heart monitor that runners use. A strap around my rib cage sending signals to a wrist band. I learnt to recognise when my heart was racing and/or irregular. Sometimes, I get a pinching feeling centre chest when it is racing. Sometimes I feel a 'ping' when my heart skips a beat.

I mostly feel it by itself, when I am lying down on my side ready to sleep. Sometimes it is banging away, and sometimes it is a fast faint flutter (I don't know which is more scary!) Now this generally happens when I am in need of a venesection - say my levels have risen earlier than when my venesection is due. This can happen when there is inflammation caused (in my case, by the numerous surgeries I now have to have), or infections (eg a simple, cold, sore throat, etc). I am also feeling more fatigued and aching than normal as well.

As far as cardiologists go as to reasons, I simply get actual shrugging of the shoulders because they cannot 'see' anything. They just do not know enough. When I consulted the more specialised cardiologist, I took with me info about HH and also a copy of a published study that showed that, as a result of iron particles being actual sharp pieces of metal (microscopic of course), they do cut their way through the cells on incoming, and cut their way out again with venesections. This can only be seen in autopsies (of the heart) though - no comfort there. The cardiologist was quite impressed that I had discovered that info. He was the one who offered the cardiac MRI and I was the first in my part of the world to have one - previously it was used in a hospital which mostly treated veterans.

Just discussing this today with another HH patient who is frustrated by similar lack of knowledge and treatment, with same symptoms. He was also just given an angiogram which showed no problem. The trouble is with heart disease caused by HH generally results in heart failure - not heart attack - then it is all over, red rover!

We are also frustrated by the general idea with a lot of drs and specialists that once one is deironed we don't have any problems!!! Maybe it is so with those who are diagnosed and treated early but when one is left for years loading toxic iron into the organs, that damage and scarring is always there and every now and then a new problem surfaces to deal with.

I generally cannot drink coffee after 3.00pm at the latest if I want to sleep (and that would be only 1 cup per day). I get away with a little bit of dark chocolate, but only time I eat cheese at night is when we are socialising so I suppose it stops me from falling asleep at the table. But the company is generally stimulating too so I have not separated the two.

How do those symptoms compare with yours? I have to go to bed now as I cannot stay up past 8.30pm. So tired I cannot hold my body together.

I know that your post was directed to Clay, but it's so interesting to hear of the issues iron overload causes other people compared to what it causes me.

I was so very lucky that I'm an anxious person to begin with because had I not been and not seen the doctor three/four years ago like I did, I don't know how long I would've gone undiagnosed.

What I find particularly frustrating is that it appears that haemochromatosis has symptoms that it shares with two other things that I suffer from: asthma and anxiety.

Sometimes my heart will just start racing for no reason - like when I wait for the bus. I don't know what the hell that is. It always subsides, generally once I decide to wait outside and get some fresh air. In terms of what you've been saying, there's a small chance (I say small because I'm so young - although I'm turning 25 at the end of this month) that it could be HH, but at the same time, asthma is known to do the exact same thing to you, as is anxiety. I do tend to feel hot when this happens, and unless either of you get a sudden fast-beating heart plus you start feeling really hot, I'm going to assume this is either my anxiety or my asthma. As a side note, Sheryl, I've already told you this, but I have had an EKG on my heart and everything was fine. I did suffer from a heart murmur when I was younger, but only while I laid down. I'm pretty positive that I don't suffer from an irregular heartbeat. Pretty sure, anyways. But who knows? Sometimes I get light headed, seemingly for no reason. But again, asthma does that to you, as does anxiety.

Another thing that happens to me is that I periodically get palpitations. But what's strange about mine is that I don't get like, one after the other. It's always just one and then it stops. It's happened three days in a row this week. Now again, I have no idea what issue to pin it on. Anxiety causes heart palpitations. Asthma causes heart palpitations. HH can cause it if I have some underlying symptom caused by HH in the first place. And it also tends to happen more regularly if it's already occurred. What I mean by that is that it happened this week on either Monday or Tuesday. Then I had the thought in my head that it happened. And the more I think about it, the more likely it is to kind of freak me out and happen again. That sort of leads me to believe that it's more anxiety-related than anything, but I really have no idea.

Another symptom I've been experiencing this week is weakness and shortness of breath. At first I didn't think it was my asthma because I didn't feel like I was having any trouble breathing. But my work is in a high-rise office building and it covers two floors and two or three days ago I needed to walk downstairs and I found that when I walked back up I was out of breath and my heart was beating fast. I feel like that's asthma-related, but again, I can never be sure.

Also, and this is way off topic now, do either of you ever experience hives? What I mean by that is over the passed few months I've gotten ones that look like maybe I was bitten by a spider and they take forever go subside. I looked it up and sometimes that can be asthma related but it's hard to really diagnose the underlying cause of any hive unless you know you're allergic to something.

Anyways, my physical is scheduled for today. I'm gonna get her to check for everything we can think of. I'm curious as to what my levels are - Sheryl, you said you need to go to bed at 8:30 because you're so weak. For me, I'm generally constantly tired however, it doesn't stop me from staying up late (especially on weekends) or still functioning during the day. I wonder if that's because I'm so young or maybe my iron levels are at a pretty good place. We'll see. I'll get her to take some blood tests today and I'll try to remember to ask for my results back.