New to PA

[Cinderellen]

Hi everyone, I am new here. I hope that you are well.

I have been diagnosed with Genetic Haemochromatosis since 2011, I had a few venesections but have required no further treatment except for 6 monthly blood tests. With serum ferritin being at its lowest 11 and transferrin saturation being below 50% I was discharged into my GPs care. Despite requesting Tsat% on tests the lab have failed to return any results in a 12 month period. This, coupled with extreme fatigue, brain fog, blurred vision, unsteadiness, radiculopathy/pins&needles and terrible bone pain I started to press for more answers. I had also had a host of gastro problems which led to having an endoscopy revealing mild gastritis/duodenitis. My mother has PA so I asked for B12 and vit D tests alongside more bloods taken for Tsat% They came back low but within range... Tsat was above range. I read that IF & PCA tests were more conclusive so they were ordered. The IF was negative but the PCA was positive so now I await Haematology appointment as I'm also iron-avid and GP doesn't know what to do.

Trying to understand things is hard especially when sometimes it's difficult to think and having spent so much time of late actually resting in bed; life has to improve soon, I hope.

My last results saw B12 at 256, Vit D at 55 (both low), iron at 36 (high), SF at 27, Tsat at 72% (h), transferrin at 1.7(l). I haven't a recent Hb or folate level. I understand that a few of these are not optimum and I may struggle especially as I am vegetarian/vegan, and specialists want to keep certain levels low due to the Haemo. It seems that I am on a steep learning curve in a complex situation.

There are so many questions and I hope to share experiences with you all.

Thanks for reading; apologies for long post.

[Gambit62 Administrator]

neither IF or PCA are particularly good tests - IF prone to false negatives about 50% of time - so negative doesn't mean you don't have IF and PCA is prone to false positives so ...

serum B12 is a difficult test and will miss 25% of people who are actually B12 deficient (and pick up 5% who aren't) if just go by test scores. Many medics look for signs of macrocytosis as indicators of B12 deficiency but it isn't among the first symptoms for at least 30% of B12 deficient patients, and if you have an iron deficiency making your cells tend to be smaller - then that is going to mask things as well.

Tests that can help clarify if you are B12 deficient include looking for by products that will build up if you don't have enough B12 to recycle them into building blocks - MMA and homocysteine. However, they can also be raised by other things so aren't first line tests but part of looking for markers to indicate a B12 deficiency.

One of the most important sets of signals in diagnosing B12 deficiency is symptoms but even this is problematic if there are other conditions going on and there is a huge overlap with other conditions - such as thyroid and diabetes

So, those are you starting points

List of symptoms of B12 deficiency (PA is one condition that will lead to a B12 deiciency) can be found here

pernicious-anaemia-society....

[Cinderellen in reply to Gambit62]

Thanks for your reply. I have already researched the symptoms and knew some of them with my mother having been diagnosed many moons ago. I have a lot of them to be honest. My MCV is within range but is 91.4 so close to the upper range limit and MMA and homocysteine have not yet been tested. Thyroid was tested last year but nothing was flagged up and no diabetes either however, the Haemochromatosis is known to cause this. My guess is that the consultant that I shall see on the 23rd will run all these tests again so that we get a much clearer picture of what is going on, I only hope that my brain fog allows me to comprehend it all. I'm finding getting up and doing just normal mundane every day tasks challenging as the fatigue and confusion is present most of the time. Also, the faintness, fatigue and blurred vision whilst out and about is totally undermining my self-confidence but the worry is how it shall be treated alongside my other conditions. Not long to wait now.

[Cankita]

Welcome to a rather exclusive club. As far as I am aware it’s just you and me! Hold on, this reply is going to be longer than your question!

At the beginning of 2013 my ferritin levels were tested (possibly for the first time) and came back at 880. A subsequent DNA test confirmed Hemochromatosis. Being a genetic condition I had had this all my life but it had taken 65 year for the ferritin to build up to that level. I had no symptoms beyond not being a ‘morning person’ ever since schooldays. It would always take until about 10 am to ‘wake up’ but other that tha I felt fit and well my whole life. As you know the treatment for Hemochromatosis is venesection (blood-letting, thankfully without the leeches!) which I had almost every week for over a year until my ferritin level dropped to around 50. I didn’t feel any better during this treatment and, in fact started to develop symptoms of tiredness, muscle weakness etc. I decided to stop having the venesections.

In early January 2015 I went for a walk in the hills of Harris (near where I live) which I thought would be no problem having walked extensively throughout my life in Scotland and the Lake District. Just 2km there and 2km back. It took an hour to do the 2km there by which time I was pretty tired but on the way back I couldn’t walk more than 10 yards without complete exhaustion. It took four hours to walk back by which time my wife had called the coastguard! I saw the doctor several times after that with no conclusions until in April 2015 I had a B12 test which came back at 120 with Folate also ‘low’. I was going to Ireland for three weeks the day after those tests so took a high dose B12 supplement while I was away. After about a week I was able to take long walks without any of the weakness and fatigue experienced earlier. When I got back I had another blood test which showed my B12 to be ‘normal’ but my Folate was still low. I was prescribed Folic Acid. Since my B12 was ‘normal’ I stopped taking the B12 tablets. Big mistake!

What I didn’t realise (and what the doctor should have known) was that the B12 levels would have been skewed by the tablets I had been taking. I still had a B12 deficiency and I was only given Folic Acid. Much later I discovered that all guidelines state that Folic Acid should not be prescribed without treating a B12 deficiency as it could result in neurological damage. That’s exactly what happened. All the classic B12 symptoms followed - extreme fatigue, lack of concentration, lack of motivation, numbness in my toes which spread to the balls of my feet and many more. I was at my lowest ebb in July 2015 when I was so tired and so ‘foggy’ could hardly string enough sentences together to describe the symptoms to my GP.

Wind forward 18 months, seven GP’s and five consultants and a neurologist finally discovered a B12 deficiency (again) and suggested I receive B12 injections (Hydroxocobalamin). I have now been having these three times a week for the past three weeks. Whilst the neurological symptoms haven’t improved (yet), mentally I feel almost back to how I was five years ago, the fatigue has eased considerably and the muscles aches and pains have also eased. I have a sense that the numbness in my feet is beginning to ease off but tinnitus and trigeminal neuralgia remain the same. I am hoping that continued B12 treatments will ease these symptoms as well but by all accounts that could take three months or longer.

Now both Hemochromatosis and B12 deficiency are both widely misunderstood (B12 much more so). Optimum Ferritin levels are a matter of opinion rather that scientific evidence, for example my doctor wants my Ferritin down to 50 whilst my brother (whose level is 440) says his doctor won’t give any treatment (or the DNA test) until his level reaches 600. Same problem with B12 with many patients being given completely contradictory opinions.

There doesn’t seem to have been any studies on the relationship between Hemochromatosis and B12 deficiency but I had no symptoms at all until I started having venesections. As you will be aware the rationale behind venesection is to force the body to produce more blood that usual so that the iron which is required to produce red blood cells is gradually depleted. What nobody tells you is that B12 and Folate are also major components of red blood cell production so it is surely reasonable to assume that B12 and Folate is depleted at the same time as iron. My consultant doesn’t agree saying that the liver holds up to three years worth of B12 but since my B12 was not tested at all prior to the venesections how can he possibly know? All that is known is that my B12 was 120 after the venesections. My stored B12 could have been minimal and as a vegetarian/vegan your stored levels could be very low as well.

I have no conclusive evidence (but none of the doctors have any evidence either way) but I believe that the treatment for my Hemochromatosis was at least partly, if not wholly, to blame for my B12 deficiency. If I had known four years ago what I know now I would have been much more pro-active with the treatment I received instead of blindly accepting it and would have asked for B12 and Folate to be monitored alongside the Ferritin.

My advice (finally!) would be firstly to learn all you can about B12 deficiency and hope that you can find a doctor who is sympathetic. Before you start any treatment have your B12 tested again and make sure that you have your Folate tested as well. Irrespective of the results I would ask your GP to consider B12 injections AND folic acid but do not under any circumstances take folic acid on its own. If the GP won’t play then treat yourself with high dose B12 tablets (or preferably sublingual lozenges or nasal drops) together with a folic acid supplement and see how you feel. All the evidence says that you cannot overdose on B12 so, even if it does no good, it will do no harm.

Please understand that this is not advice given with any sort of medical background but, having studied B12 deficiency extensively over the past couple of weeks, this is what I would do. Gambit 62 has given more specific advice but whether you can get those tests or even get your GP to understand what is being said could be a whole new challenge.

[Cinderellen in reply to Cankita]

Thank you so much for your detailed reply, I very much appreciate it. I am sure the instances of PA & GH are much higher as there certainly seem to be more on the social media groups that I'm in but I'm glad that you are no longer on your own, so to speak.

My GP seems quite sympathetic and will order tests that I request but she knows that I make it my business to know (what and why) beforehand and accepts my reasoning, even above lab technicians (who told her my Tsat % could not be measured due to low ferritin, when in actual fact it had been measured at a time when my ferritin had been much lower) and went straight to Lead Biochemist on my behalf to order tests. I am hopeful that she will do all that she can to ensure that I get the care that I need and has referred me as she has admitted that she doesn't know enough in treating me at this point.

I am learning as much as I can about the PA, and in fact the GH... I am attending the GH society's conference next month so I shall be taking notes and hopefully getting answers from some leading specialists in the field.

The symptoms you describe I have each and every one except the pins and needles is more often than not in my hands presently but I have had it in my toes within past few weeks. I have even had a gum guard made for TMJ/trigeminal neuralgia and eye duct stretching twice to try to remedy complaints that I now know can be linked to a B12 deficiency.

The main thing I'm learning is that with both complaints, neither are taken seriously enough in the early/low-loading/maintenance stages and only considered symptomatic if levels are really high in the GH and really low in the PA. I have been insisting for years that something was wrong as you don't feel such exhaustion from the simplest of tasks or find that getting out of bed and getting showered is a major accomplishment. I have had them scratching their heads for a while now and my guess is - I still will.

Thanks again, I shall heed your advice.