Haemochromatosis

[nolegion]

Great. I was told yesterday that a sibling of mine, about the same age as me, has been diagnosed with (homozygous) haemochromatosis. Never heard of it. Unlikely to worry her much, alas: such highly diminished cognition and life expectancy (extremely) advanced frontotemporal dementia now leaves her, put all too many other conditions, except pain\discomfort, largely into the shade.

 

But her GP (not mine) was busy sending messages to my other sibling and me to 'get tested' as soon as possible because, I learn over the past few hours, it is an hereditary disorder and, high risks and blah-de-blah, 'genetic counselling.' (Bit too late for that.)

 

I've looked at the main sites the standard searches throw up, of course – but has anyone here got this condition, or know someone who has?

 

And are these 'tests' just the same ol' blood tests – wait 6 months to get a GP appointment, if ever – another 6 weeks to see the practice nurse – and do it all twice after the realise they didn't request the right thing in the first place?

 

Any practical info would be much appreciated.

 

I understand the usual treatment is leeches.

[terrence]

hi.l have had this condition for a number of years and all my siblings.so if you need to know anything about this condition I can tell you my experience with it.if not controlled it can be a silent killer

[nolegion]

Many thanks for such a swift response, terence. Nothing beats first-hand knowledge.

 

The initial tests - just 'usual' blood-tests? Anything delayed or protracted? That's the first thing on my list. We seemed to wait a long time for my sister's results to come through - and they did it twice.

 

The genetic factor is second. My incapacitated sister has no children but I have 2 and my other sister has 3 – all young adults, 2 of them intending to wed their respective partners shortly. Since having the condition oneself, or carrying it, seems, from what I am reading, so likely with a confirmed homozygous result in a full sibling, would you think it appropriate for us to suggest that the next generation just 'get on with it' and get tested too at this stage?

 

Last, any info you care to share about the progression of the disease and what's works best to control it, would be very welcome.

 

My incapacitated sister has no way of telling us what might already be troubling her from it. As I have said, her life expectancy is short (months not years) but if there was anything we could 'guess' and get her care home to look out for as well as us, we would much like to make sure we don't miss it.

[terrence]

Hi again.first of all its the blood test if suspected haemochromatosis its then into hospital for a liver biopsy to show the level of the iron in the liver,not pleasant,if the levels are high they will take units of blood until levels drop ,can take a while.it was unusual to find in females as the iron was lost in the monthly period but only last month my niece was diagnosed.throughout the years most of the males in our family have died prematurely,before the age of 60,heart problems and cancer of internal organs but it wasn't until the last 20 years that we found out what this condition can do to you.but now we know it can be controlled by eating a low iron diet and most importantly no alcohol as this can lead to irreversible liver damage.there's alot more information i can pass on but is getting late now got to get up early if you want,tomorrow i will give you a bit more info.

[nolegion]

Many thanks for all of that, terence. Duly noted.

 

Any further info you can put into the pot whenever suits woould be read with care.

[terrence]

Hi nolegion here are a few facts on the condition.when you have high levels of iron in your body you will know about it some of the symptoms will be yellowing of the skin aching joints extreme tiredness and you may get blisters on the hands and feet a generally feeling unwell.how my consultant best described it to me was,if put a nail in a bucket of water and leave it ,what happens to the nail,it rusts' and corrodes.this is what happens to your internal organs the condition damages you inside out .am i right in thinking that like myself your no spring chicken,me 51,if so i should of thought you may have shown some symptoms by now if you haven't maybe your clear.i was diagnosed at the age of 20 and for 20 years i was having one,sometimes 2 pints' of blood a week taken.over time more was learnt about the condition so sensible eating an no alcohol was put into practice and now i haven't blood taken for 5 years so its not all doom and gloom i get tested every 6 months so far so good .hope this helps,good luck

[nolegion]

Terence. If I may say so, you are a star.

 

Since first posting here, I have managed to extract a 3 mins 10 sec telephone consultation with a 'hurrying' GP (best I could get this side of Christmas).

 

This brief exchange at CAG has given my family and me far more pointers to work with, and hope, right now and over the next few weeks than that.

 

In any event, tests now scheduled.

 

Many thanks, indeed.

[terrence]

Your welcome.feel free to ask anything your not sure about,probably more clued up on it than your GP ,certainly am mine

[Sali]

I first became aware of this condition when a colleague of mine was diagnosed. He had a series of health issues and it took an age before they finally got to the root of the problem. It was also raised on the TV show Doc Martin - don't knock it, they obviously do good medical research. The female character had been taking iron supplements (oh, the hidden dangers of supplements!). I believe it was mentioned that haemochromatosis is more prevalent in those of Celtic descent.

 

So, is it now thought that your sibling's deterioration is due to this condition being undiagnosed? Ignore this question if you think I'm being too beaky.

[nolegion]

You are welcome to ask, Sali. It is in the nature of things that most of my family is currently wondering whether condition X, Y or Z might really be a feature of undiagnosed haemochromatosis!

 

We are, however, not aware of any link between this condition and Pick's disease (which is the type of frontotemporal dementia my incapacitated sister has).

 

Information, especially if checkable, is welcome from any source. I once gave legal advice based on some hurried research – into something that had been said in The Archers, the previous evening.

[Sali]

It does seem as though a differential diagnosis (of haemochromatosis) for Pick disease has been considered, but it appears controversial.

 

http://emedicine.medscape.com/article/1135504-differential

 

I also found this article on hereditary haemochromatosis, which you may already have read, which suggests it may be over-diagnosed.

 

http://www.thedoctorschannel.com/view/hereditary-hemochromatosis-often-misdiagnosed/

 

Is your sibling thought to have Niemann-Pick Type C?

 

I haven't dug any deeper, but I'll keep my eyes peeled.

[nolegion]

More food for thought. Thank you Sali.

 

Niemann-Pick is different condition from Pick's disease, however.

 

http://en.wikipedia.org/wiki/Pick's_disease

 

Strictly speaking, the doctors say they can't classify frontotemporal dementia into the subset 'Pick's' unless and until they carry out post mortem analysis. But in my sister's case, the late age of onset, initial behavioural symptoms and the CAT imagery, combined with the swift and aggressive cognitive and physical deterioration thereafter, leaves them in no effective doubt.

 

Anyway, I gave may test samples today and, I was about to say, it all passed without bloodshed - but that would be exactly wrong! Without incident, in any event, and results expected next week.

[nolegion]

Not so good. Rare telephone call actually from a fairly pleasant GP, today. Test result, already. Ferritin level high. Genetic component samples (more blood) to be taken next Monday.

 

I suppose with the chances of having the condition or carrying it being 75% (because of a full sibling with the full, genetically-tested, condition) before I even spoke to the surgery, it would be unreasonable of me to suggest that they might flaming-well have got on with it and done this next test, at the same time as the first?

[terrence]

Hi noelgion ,look on the positive side,at least you know you have it and can do something about it,far better than not knowing and later having condition's that could well be irreversible.If this is the only health problem i have to deal with in my lifetime i will be happy with that.You can and I am sure you will lead a normal life with it.don't let it worry you or your family,its no big deal,just a bit of a nuisance

[nolegion]

Sure thing, terrence, and thank you.

 

I am not concluding I'm necessarily even a carrier of the condition yet. The high ferritin levels could be due to something else, equally controllable.

 

What is hacking me off, just now, is that I have had to jump through several hoops over the course of the past 10 days to get the blood tests done at all. And, oh dear - they didn't arrange for the genetic tesing component - which, if one has children oneself, one will inevitably want to know about with a full sibling diagnosed with homozygous haemochromatosis, even if one's own ferritin levels are currently normal.

 

My incapacitated sister's GP was clear about that, and my other sister is awaiting her results early next week at another surgery - and of course they have already arranged for the genetic testing to be done at the same time. My practice just couldn't be bothered to get it right, it seems. I was quite clear about it when I spoke to the GP concerned.

 

Heh, ho. More tests, more waiting to explain to the children...

[terrence]

Yes i know what your going through but once your in the system you will soon get sorted.My children are all clear at the moment,all girls below the age of 25.Have only had one girl in the family diagnosed,(my niece)and we do have a lot of girls in the immediate family,very rare in females

[nolegion]

Ah, well there was always a chance.

 

As it has now turned out, however, the genetic tests confirm that my other sister and I both have hereditary homozygous haemochromatosis.

 

In my case 'serum ferritin levels' are " > 2000 ug/L", according to the test result I am now staring at, which appears to compare with a normal range for a male of "33 - 490 ug/L."

 

To see a consultant in due course, I understand.

 

Hey, ho.

[Sali]

Sorry to hear this Nolegion.

 

Looking back do you think there were any warning signs or symptoms that you (or your sisters) dismissed or mistook for some other passing complaint?

 

What led the medics to test your sister in the first place?

[nolegion]

My incapacitated sister was exhibiting some symptoms - including digestive problems - which made the care-home-visiting GP (who seems like a good 'un) think that she might have some form of liver-related condition, even liver cancer. That led him to check the blood ferritin levels, and that in turn led to the genetic testing which confirmed the hereditary condition.

 

That all 'hangs together' in the context of what I am now learning about the disease. My sister had never reported any extended digestive problems before, but in women the underlying condition usually – if ever – only starts to cause problems later in life.

 

I also have the 'active' condition according to my high ferritin levels, and I have had digestive problems ever since I was a teenager. They have been getting steadily worse over time.

 

This was long ago dismissed (and that is the right word) as IBS, and I have just had to work my life around the problem for decades. Right now the condition is as bad as it ever has been, and leads to me do things which I hate – including last- minute cancellation of arrangements to meet people, refusing to drive in the mornings if at all possible, and a certain amount of pre-planned 'defensive' eating (or not eating).

 

I now read on the net that the damage to internal organs haemochromatosis can cause sometimes produces symptoms very much like IBS.

 

May be absolutely nothing to do with it in my case... but I may yet find out.

[thepalace1]

Not so good. Rare telephone call actually from a fairly pleasant GP, today. Test result, already. Ferritin level high. Genetic component samples (more blood) to be taken next Monday.

 

I suppose with the chances of having the condition or carrying it being 75% (because of a full sibling with the full, genetically-tested, condition) before I even spoke to the surgery, it would be unreasonable of me to suggest that they might flaming-well have got on with it and done this next test, at the same time as the first?

 

Hi nolegion.

 

My mother had haemochromotosis, my sister has it but I am only a carrier. The reason they do not do the full blown Genetic Test first is because it costs hundreds and hundreds to do. Unlike the ferretin test which costs pence.

 

Also please bear in mind, that when my mum was tested, my sister was tested and also when I was tested, the test results took over 6 weeks to come back, there are only to my knowledge 2 laboratories in the country that perform the Genetic testing for Haemochromotosis.

 

Im my case it was 9 weeks, because my bloods were initially sent from my doctors to BRadford Royal Infirmary, who intern passed it to Leeds General Infirmary, who intern passed it to a laboratory in Newcastle who intern passed it to the correct lab to do the work.

 

This was several years ago and they seemed like they didn't know what or where to get the bloods analysed, hence my blood travelling the country

[nolegion]

Many thank for that, thepalace1. It sounds like you were given the hell of a 'run around.'

 

Would it be OK to ask how your family members coped\ are coping with the condition?

…………………………………………………………………………….

 

I am slowly building up a picture of both how the condition has been diagnosed and treated in the past, and of what's being done now.

 

The ability to use information from technical advances in genetics has grown considerably over recent years, it seems. I gather most forms of genetic test should not now take more than a couple of weeks from sample extraction to score sheet in a GP's hands.

 

But, as indicated by thepalace1, such tests can be significantly more expensive than a 'standard' blood test. I researched how much it would cost to have one for heamochromatosis done privately today: about £200.

 

The thing that was bugging me a little while ago (and, to an extent, still does irritate me) was the fact that if one has a full sibling diagnosed with the full condition, then inevitably one will need to have the full test done – i.e. the genetic test, as well as any test for e.g. ferritin levels. (Because, for other viewers, my incapacitated sister's result, for instance, means that, at best, both my parents are carriers of the condition.)

 

As it happens, my other (otherwise healthy) sister is a case in point. Her results show that she, too, has the hereditary homozygous condition – but her ferritin levels are currently within the normal range. For her therefore, all being well, if the disease does ever 'kick in' it will never harm her because her ferritin levels will be checked frequently from now on as routine – and the appropriate treatment will be applied before it can do any damage. And she is in a position to explain what the risks are to her children.

 

We knew all this considerably in advance of my knowing my genetic results because her GP 'automatically' organised the genetic test at the same time as taking the blood sample for ferritin level testing. Mine didn't.

 

My children will now need testing as well. They are forearmed, and will insist on the genetic test being arranged, from day one.

[Sali]

I'm sure you were already aware and tuned in, but just in case, heamochromatosis was raised on Inside Health last week.

[nolegion]

Many thanks for that, Sali.

 

In fact, I failed to notice the original broadcast and was tipped off about it a bit later. So, for anyone whose eye this thread's title catches, here's the link ( = the"Iron Overload" bit):-

 

http://www.bbc.co.uk/programmes/b04cc7ym

[thepalace1]

Hi nolegion, so so sorry I haven't picked up on your post #21, and sorry for the 18 month gap.

 

Unfortunately my mother passed away in 2012 from cirrhosis of the liver caused in part to the damage caused by the excess iron of the haemochromatosis but also more in part to alcohol.

 

My mother was diagnosed with Haemochromatosis around her early 50s, as it seems is the more likely age range in women. It tends to show more symptoms in women after menopause, a woman's natural ability to loose blood on a monthly basis to some extent hides it, as I'm sure your aware of, the main treatment for the excess iron levels is to have around a pint of blood taken, in my mums case initially weekly as her serum ferritin levels were around 1500. They say they should be less than 50; my mum after 2 years of venesection got only as low as 200, her veins were shot to hell and as each week went by it took more effort to get a vein, in the end they always had to find the vein with the ultrasound machine and the consultant taking over.

 

This part, more than the physical symptoms, my mother struggled with, she was 5ft1 and 7stone, and she was always in pain when they took the blood. For this, I look back with deep sadness, but great pride with how my mother dealt with it.

 

Please don't let this post worry you too much, as I said my mother was a heavy drinker, if she had not been, the heamochromatosis would have been brought under control without any more damage to her liver.

 

The symptoms my mother initially went to the Drs with were fatigue and pains in her joints, the joint pain being the worst of the symptoms.

 

I took my mum weekly to Ward 5 Bradford Royal Infirmary for venesection. We were well known on ward 5 near the end of my mum’s life, we grew quite close and fond of the nursing staff. The same nurse treated me when I was in for a pre-planned operation last year as ward 5 is the surgical ward.

 

The highest prevalence of HH is with people of Iris decent, my mother was born 20 miles north of Dublin, she had 16 brothers and sisters ( a large Irish family with 17 children ) as soon as she was diagnosed the Dr printed a letter for her to give to brothers, sisters and children for them to be tested, the doc was shocked when she said you'll need to print about 20 of them, ha ha.. When my mother informed her brothers and sisters there was a mad rush of HH genetic testing in Southern Ireland, which by the way they all had to pay privately for. Out of the brothers and sisters who tested in Ireland 4 of the sisters have full HH and 2 brothers, although not all 16 were tested as some didn't bother/couldn't afford it which is up to them, my mother did her part in at least informing them. My mum had two children, myself male, and my sister, as I said earlier my sister has full HH like my mother but I am only a carrier.

 

I being a carrier, if I was to want my children (3 of) to be tested then I would have to pay privately as the NHS would not pay. But my sister can have her 4 tested under the NHS, but the doctors have said they are better waiting until they are older, whether this is a cop out I don't know.

 

As a side note, I recently found out that the tests were all performed in Newcastle, and the consultant in charge of the DNA profiling there had the exact same name as my mother, Ann Curtis, which today, years after the tests and 4 years after my mum died I found spooky.

 

Anyway, I hope you are doing ok, I hope any part of this post did not worry you at all, I am sorry again for the delay in replying, I forgot all about the post as I did not log into this site for ages.

 

If you require any further information then I am more than willing to give you my personal email where I promise I don't take best part of 2 years to reply.

 

Good Luck!

[nolegion]

Thepalace1. Many thanks for your kindly and highly informative post. (V. sorry to learn it didn't work out so well for your mum, though.)

 

Your comments chime with a lot of what I have been told over the past year or so. I will be back when I have had more time to consider the detail.

 

For anyone else watching though, I have some encouragement: the treatment (venesections) can work. My ferritin levels reached over 8000 before they started to come down, but weekly 'leechings' have brought them down to nearer 500 – and they are still going down to the type of 'normal zone' (50 to100) thepalace1 mentions. It can be truly tiring, but it's still progress.