First Diagnosis: Interpretation of bood tests and a way forward

Allergies, blood and immune system
1

Hi All ( apologies if this post appears twice I had computer problems)

I wanted to discuss initial results and levels after first blood tests and also track my own (and anyone else who wanted to add to this post) readings and  treatment for future newbies. I know everyones treatment, results and bodies are different but hopefully this may help someone including myself along the way in interpretting results and knowing what to expect and questions to ask. I've asked my main questions at the end of this post.

I've just been to my local GP for a blood test and was informed my Serum Ferritin was 1050, after telling him that my Aunty had Haemochromatosis the GP conducted a further blood test which came back as follows:

Serum Iron Level: 32.9 umol/L  Healthy range: 14.00 - 31.00 32.9 umol/L

Serum transferrin: 2.43 g/l Healthy range: 2.52 - 4.29 g/l 

Transferrin Saturation Index: 10.6 ug/l Healthy range: >5.40 ug/l

I also had a liver function test as part of my initial bllod tests which came back as follows:

Liver Function Test - (JBW) - Normal

Liver Profile

Serum total bilirubin level: 10 umo/l Healthy range: 1.00 - 21.00 umo/l

ALT/SGPT serum level: 28 U/L Healthy range: <41.00 U/L

Serum Alkaline Phospherates 95 U/L Healthy range: 30.00 - 130.00 U/L

Serum Total Protein 64 g/L Healthy range: 60.00 - 84.00 g/L

Serum Albumin 42 g/L Healthy range: 35.00 - 50.00 g/L

Serum Globulin 22g/L Healthy range: 18.00 - 35.00 g/L

My GP's interpretation of all of the above was that it's highly likely that I have Haemochromotosis although I am yet to be officially diagnosed, this aparently will be done by a Liver specialist who I am to be refffered to.

My own conclussions based on what I've read on line, the above results and who I've spoken to is that I almost definitely have Haemochromotosis. I'm just over the watershed level of Serum Ferettin at 1000 which is where serious damage to organs can start to occur although my GP said that as my Liver Profile test showed that all my results were within the healthy range it was unlikely that I would have any Liver damage at the moment.

I have various questions regarding my own results that maybe other members could help with:

1. Is my asssumption that although my serum ferettin reading is 1050 its unlikely I have any Liver damage due to the normal profiling in my liver test.

2. If my assumption is not correct how do you ascertain whether there has been any damage to your liver or any other major organs?

3. How quickly does your Serum Ferretin levels increase? I'm at 1050 at the moment but what would have been my likely level a year ago and what would it likely to be in 6 months time without treatment.

4. At my current levels are liver biopsies common or necessary? I've also read about MRI scans are these common?

5. How many times is it likely that I will have to give blood/phlebs/venesactions at my current level and the number per month? Is it normal to do it once a week or twice a month? Wat should I be looking out for, I'v heard you ahve to watch your Haemoglobin levels (?) to ensure you don't become anaemic.

6. I s there anything else I should be looking out for or requesting from my doctor or consultant as a matter of good prectice.

As well as the answer to my questions, I'd be interested to hear of others initial blood tests and diagnosis levels and the resulting treatments and deveopments.

Thanks in advance

John Paul 

2

Hi.

I'm newly diagnosed with GH

My ferritin is at 484

My transferrin saturation is 100%

I had liver scan. All fine

FibroScan. Score 2.5 which is excellent - no cirrhosis. Not sure MRI will happen despite painful palpitations and very sore toe and knee joints...

Currently awaiting apt to start Venesection.

I don't know how often these will be. It does depend on haemoglobin as to how often you should let so I'm hoping I'm ok to do weekly lettings to achieve maintenance quicker.

Sorry I can't help further

Kate

3

A genetic test (blood) will confirm if you have haemochromatosis.  You don't need a gastroenterologist for that.  A gastro can check via biopsy if you have iron deposits in your liver, but a scan is a safer option.

you probably have a fatty liver caused by haemochromatosis and that is not revealed in a LFT.  Alcohol consumption can make it worse.

The HFE gene/s revealed by the genetic test, will help indicate how aggressive your iron loading is or can be.  Ditto alcohol.

You do not indicate what your transferrin saturation % is.  >50% is a marker for haemochromatosis.

If it is really genetic haemochromatosis, in particular homozygous C282Y, weekly venesections should not be a problem for you.  If you do not have genetic haemochromatosis, and your iron overload is caused by something else, or you are homozygous H63D, then weekly venesections, could be a bit of a drain on your haemoglobin after a while.

I have had an MRI of the liver but I had to pay for it in Australia ($700).  You can also have an MRI of your heart to see if there is loading there too.  As far as other organs go, really it is a matter of symptoms, and everyone's can be different.  My undiagosed HH caused my blood to be so thick with iron, my hips broke up from avascular necrosis.  It prevented the blood from feeding the fine capilliaries in the bone and the bone died.  It was also causing constant pain LH side heart region.  Pain subsided when I finally started venesections.  Heart specialist said that is all I can do - keep having venesections.

Q3.  you might as well ask how long is a piece of string.

Check that your dr has tested your thyroid, as well as your glucose levels as we are prone to diabetes.  Gut pain could be helicobacter pylori.  It thrives on iron, as does cancer.  Check to see if you have had a C-Reactive Protein blood test for inflammation in your body.

Fatty liver can increase your ferritin levels, and conversely, high ferritin can cause fatty liver.  So far the best treatment for fatty liver is eliminating sugars and starches.  The fat is from unused energy provided by the sugars and starches.

The going thing so far is to drink tea, coffee, dairy (contains calcium) with your meals.  I have cheese and/or yoghurt for desert, plus take a calcium tablet with dinner.  The tannins and polyphenols supposedly reduces the uptake of iron, and calcium definitely does.  Walnuts and almonds contain a goodly amount of tannins.  It is not recommended to try to eliminate iron from your diet.  You will become aenemic if you do (i.e. low haemoglobin).  Besides one venesection will remove the iron of 50 steaks, and also, there is iron is just about everything, except cream, some creams cheeses, and whiskey, and you can't live on that.

There is likely to be more iron in the dirt coating spinach leaves, then there is in the leaves themselves, and there are oxilates in the green leaves that help reduce the uptake of iron too.  However, do not drink OJ or take vit C with your meals or you will undo all that, and cause an increase in the uptake of iron.

Try to borrow from the library, a copy of "The Hemochromatosis Cookbook".  There is a lot more to it than recipes and you will learn a lot about iron in food.

Q6.  Always ask for a copy of your results, so that you become very aware of how you are progressing, keep notes of how you are feeling at each level, particularly when you get to de-ironing stage, so that you become aware of your optimal level.

Join your country's haemochromatosis association and support them to create awareness.  You can also get information from them.  Arm yourself with much information, and the questions will come.  You have to be your own advocate, and you must become well informed to do so.

For the record, I am homozygous C282Y, my husband is homozygous H63D, and our son, of course, could not miss out, is compound heterozygous C282Y/H63D.  So we have the full spectrum.

Having said that, researchers are finding a lot of anomalies, different genes that can make some people worse than others, and there may be some genes that cause heterozygous people to suffer with iron overload.

A lot depends on how long you have been suffering undiagnosed too.

Hopefully I have helped.

4

Wow Cheryl that's loads of info. Thank you. I'm homozygous C282Y and waiting for VS to start.

Can I ask you, do you have thyroid problems? I'm gaining weight steadily despite exercise (even with painful toes and knees) and did your heart MRI show anything? My palpitations are like a stitch in my heart. This concerns me as I had a heart attack "possibly of viral origin" 9 years ago. I can't help thinking it was iron overload rather than a virus.

Thanks, Kate x

5

I always felt I had thyroid problems, but my bloods were always normal, even when it was found I had multinodules on my thyroid, and had to have half thyroid removed - I refused to allow dr to take the whole thyroid as only half was affected.

My MRI of heart did not reveal anything, because it was long after I was de-ironed.  However, I had developed arrythmia, and yes, I describe it as my heart being pinched sometimes, plus the racing, and sometimes being too slow.

I was put on beta blockers, but they immediately made my brain foggy, my brain stopped talking to my bladder, so fluids went right through with no pause along the way, I could not put more than a couple of words together as the words disappeared before they made it to my tongue.  I tried to drive to dr but kept forgetting where I was going, then 2nd time, I kept repeating to myself, I am going to dr, but discovered I could not remember where dr office was.  Then I  discovered I could not read the traffic lights - I did not know what to do when I came to an intersection.  So I got home, and have never driven since.  As the beta blockers dilate the blood vessels, I reckon the blood vessels allowed iron particles into my brain.  It took years to get my words back, and I still have a problem sometimes.  So I went off the beta blockers, bought a heart beat monitor (like runners use) and practiced bio feedback.  That is, while watching the monitor (watch), I relaxed, breathed and 'thought' my racing heart down.  I had actually participated in doing similar in an experiment conducted at my university years ago, except they wired me up to a computer.

However, I still feel there is a heart problem, as suddenly when walking (like shopping), I feel like I have been hit by a truck, and I am yawning, yawning, like I am gasping for air.  As tests had not shown anything up, I feel like I just have to live with it as I have not yet found a cardiologist who REALLY, REALLY knows about haemochromatosis.  So far, it has been treated rather casually with not much interest.

Also, from reading research, I found that autopsies of people with haemochromatosis, have found that the iron particles (which, although really small, are actually sharp pieces of metal) actually cut through the cells on their way in and cut through again on their way out, causing scar tissue.

My dr took 9 years to diagnose after symptoms set in almost immediately after having a hysterectomy, even then it was only after my hips broke up.  She was in denial about haemochromatosis and as she was the best female dr in town, and I was so, so tired (that I was slurring and staggering, and had so much body pain and no amount of sleep helped), I did not go dr shopping.  And, it was pre google, so I did not have the means to diagnose myself!

I absolutely resent that ignorance, as taking that long to get treatment, I still have major problems, and I had to give up work 12 years ago, long before I wanted to.

I had some major flu in my early 20s that put me in hospital, and I have since found I am positive for glandular fever antibodies, but there was no mention of it affecting my heart back then.  My son had GF when he was about 18 and as it does do damage to a lot of organs, I really feel that it provides a weakened path for iron overload to those organs.  Not that I have come across any research to confirm that.  Actually I have not searched for that - there is always something else to search about.

However, I have come across case studies that people who do certain sports and over use certain joints, and find they have haemochromatosis, find it affects those overused joints more.  Could be a natural progression though.

If you are going to have an MRI of the heart, do it now before you reduce your ferritin levels, to see if there is anything to see.

I get hot when it is cold, and I suddenly freeze when it is hot.  My internal thermostat just does not work properly, and this is connected to our hypothalamus which is easily affected by HH.  Then I found I had a small tumour in my pituitary gland causing terrible hormone problems for years before it was diagnosed.  The pituitary gland is just under the hypothalamus.  The hypothalamus tests our blood and therefore absorbs iron and then it is a downward drop into our pituitary gland.

That it why we often end up with hormone problems, even fertility problems, loss of libido and impotence, early menopause, if we are not diagnosed and treated in time.

I have to avoid sugars and starches to keep the weight off, some of us with HH do not digest them very well, that is why we end up with diabetes too.  Plus it helps to keep the fatty liver problem away.

I have been to two HH conferences and have talked to researchers from around the world.  It is no good depending on your dr or even on your haemotologist.  Mostly they wait for information to come to them.

Happy to help.

 

6

My understanding is they will probably do a biopsy at some point, as it's automatic with HH. Though they will want to see it after a few months of deironing. I was diagnosed at 4,000. I probably should have been diagnosed 10 years earlier. My liver function tests would rise but then normalize. My platelets were undetectable, so they knew something was going on, but it didn't add up to anything. So, my liver has mild damage, which they could see on an ultrasound. The biopsy was the same. Mild damage with iron deposits. I think if you are just at the 1,000 mark and treating, you should be spared anything permanent. I wouldn't worry about some huge rise in a month or two.

With deironing, my platelets became normal. I don't drink at all, minimize sodium and no processed sugar or flour. Also minimal animal fats (chicken is my only meat) . Those are important for your liver.

7

Wow! Reading your post reminded me of those bad days. I did have days where I drove home from work and realized that I shouldn't be driving. I worried at times if I was having a stroke as reading sometimes was difficult. I also had to speak slowly and deliberately to not slur, and I often had trouble remembering the word I wanted. It was scary, but happily a distant memory now.

I discovered late that sugar is a crippling enemy of HH patients. That can't be repeated enough. I will say taking that out of my diet was so helpful in taking the fog away. No doctor told me that.

8

Yes, I found reading became difficult.  My eyes move over the words and sentences and then I would realise I did not understand or absorb a word, or my eyes would just fall of the bottom of the page!

I wondered about the stroke bit too, even post de-ironing.  I have had MRIs of the brain, because I ended up having a micro adenoma of the pituitary gland (took a nightmare 6 years to diagnose), plus five years ago, I discovered a lump under my ear, which turned out to be a rare and dangerous cancer, and had to have my parotid gland removed.  I then had MRIs of the brain every 3 months for 5 years to check for any return, plus a full body scan every year as it can matastasise (sp?).  The MRIs will now be reduced to once a year.  So no stroke like injury was evident.

I am glad you realised that sugar is the enemy.  Not many people do, nor doctors.  However, a local gastroenterologist has written a book about what to do about fatty liver which is good.  And there are often documentaries about it on tv, which I seem to be the only one who watches them.

We were taught to have sugar for energy, and not touch fat.  It is actually the other way around (good fats anyway).

I was following the Paleo diet before it had a name, except I still have dairy.  I just don't need sugar any more, except when someone puts a home-made cake or biscuit in front of me and I have to be polite!!!!!!  smile

9

I support creating awareness about haemochromatosis and pushing for screening.  At the very least, drs should do an iron studies test as a matter of course.  It is a window to a lot of health issues.

My husband's dr does it (my husband has haemochromatosis too), and now my gp does too.  She recently discovered she also has haemochromatosis!

 

10

You sure had a lot to deal with at once! It sounds like you got through it, I hope you are feeling well these days! That must have taken a lot of resolve to get through it.

11

Agreed. I was in the hospital for a week with sepsis and given iron while there. They accused me of IV drug use and heavy drinking when they saw my liver. I got angry and told them to rethink their diagnosis taking those two out of the equation. I read that too many people die undiagnosed because the symptoms are blamed on something else.

12

And septicaemia is extremely dangerous for someone with high ferritin.  They gave you iron without doing an iron studies???!!!  As they say, what the ...?

13

For many reasons I was very lucky.  Things could have turned out much worse. 

14

Hi Kate

Thanks for your reply and glad to hear that your liver scan went fine.

When you are talkng about your MRI not happening are you reffering to an MRI on your heart?

Good luck with the Venesections and please feel free to keep this thread updated with your future results for other members to refer to.

Thanks JP