Need Diagnosis urgently

[Damseltree]

Who can i go to for a diagnosis. GP says serum b12 of 400 proves not deficiency. All the symptoms tie up with PA or b12 amaemia. Should i go to a haematologist directly and pay?

[fbirder]

If you go to a haematologist then they'll almost certainly come up with the same answer.

Why do you think you are suffering from a B12 deficiency, rather than anything else? What are your symptoms? What other things have been ruled out? Have you had MMA or hCys tested?

[Damseltree in reply to fbirder]

Symptoms are shuffling gait, giddy on closing eyes and in the dark, feet feel dead some of the time, weakness in muscles, tired all the time, sleep all morning and some of the afternoon, shaky hoarse voice, memory erratic decision making poor, tinitus and shortness of breath on walking a short distance. All symptoms have come on gradually over many many months if not years. Dr doesn't think it's Parkinsons. No other tests done. She says she doesn't know. I thought serum b12 tests were unreliable according to the NHS inform website and this website. No other blood type tests done. Full blood count ok. No heart problems or kidney or liver probs

[Ghound in reply to Damseltree]

Hi, I'm not qualified to comment on your individual symptoms or health, but just to say that I had a similar experience to you ;

- serum B12 of around 400 but all the signs & symptoms of a B12 deficiency, which had been gradually building up and worsening over several years.

GP said I must have chronic fatigue syndrome by a process of eliminating other possibilities - including B12 deficiency !

Long story, but eventual treatment with B12 injections has restored me to an acceptable level of health.

I have politely disagreed with one part of Gambit's reply ( see below) as I feel my case proves that " UNLIKELY to be B12 deficiency " does not necessarily mean IMPOSSIBLE to be B12 deficiency !

I know this is the "PA Forum" , but does it really matter what the actual CAUSE of the deficiency is, be it at absorption at a cellular level or whatever ??

We all have the deficiency and suffer the same range of symptoms and debilitating I'll health.

I hope your problems are resolved soon, wishing you all the best

[Gambit62 Administrator]

It is unlikely that you are B12 deficient with a serum B12 of 400 (regardless of units of measurement). If you have had a previous B12 test (without supplementing that was significantly higher (more than 20% higher) that might suggest an absorption problem which could lead to a B12 deficiency and PA is a potential absorption problem.

It is possible to have problems with metabolising B12 at the cellular level - not really the topic of this forum - homocysteine and MMA are secondary tests of what is happening in your cells - they will be high if your cells don't have the B12 they need to recycle them but they can also be raised by other things eg folate in the case of homocysteine and kidney problems in the case of MMA, so they need to be done in a context that rules out other causes.

Symptoms of B12 deficiency do overlap considerably with other conditions.

What other investigations have you had done and did they throw up anything that looked odd that the GP is following up on?

[Ghound in reply to Gambit62]

Hi, I'm not qualified to comment on / diagnose according to somebody else's symptoms.

However I too had a serum B12 around 400.

I still suspected I had a B12 deficiency ( pronounced Neuro symptoms etc ) & had to fight to get doctors to diagnose / treat me.

After several months of B12 injections, during which I was losing faith of ever becoming well, my symptoms began to resolve.

Although I never had any other investigations & therefore probably do not have an official diagnosis, it would seem, by the fact that B12 is keeping me in relatively decent health, that I have a deficiency.

Whether it is PA or not, I do not know ( there is a familial history of PA) but reading your comment Gambit, I now feel as though I 'm on this forum under false pretence.

It was the information gleaned from this forum which helped me to deduce what could be wrong with me and to challenge an earlier diagnosis of chronic fatigue syndrome.

I have the utmost respect for everyone on the team, like yourself, but why the 'splitting hairs' over whether someone has PA or not ?

Is there another forum somewhere for people like myself who may or may not have a ' functional ' deficiency ?

I beg to differ that having a level of 400 means unlikely to have a B12 deficiency.

As I said, I'm not qualified to comment on anyone else's health, but in my case B12 injections are literally saving my life.

I'm sorry, maybe I'm over tired tonight and over reacting,

but suddenly I feel a little unwelcome on here ...

[Gambit62 Administrator in reply to Ghound]

the vast majority of people will be okay with a level of 400 - which is why I say it is unlikely - I most definitely did not say it was impossible - that someone will have a B12 deficiency at this level.

Serum B12 is a very blunt tool - partly because of the limits to its accuracy but also because it is only measuring what is going on in blood - not what is going on in cells.

The normal range is an extremely large range - some people need and maintain much higher levels than others. Problems occur when/if they develop an absorption problem, in which case they will no longer be able to regulate their B12 levels at the point that is right for them - meaning that a significant downward trend in levels would be good evidence of an absorption problem - but unfortunately serum B12 tends to be treated as a snapshot test rather than a trend test.

The GP mentioned is incorrect in saying that a level of 400 definitely disproves deficiency - it just makes it unlikely. Good investigative technique would be to check if there are other possibilities and rule them out. Come back to B12/other possibilities if nothing obvious turns up - hence my question about what other investigations had been carried out.

The reasons why some people aren't okay at 400 - the genetics of why there is such a huge normal range for B12 - are beyond the scope of this forum.

[Ghound in reply to Gambit62]

Hi, sorry, rereading my earlier comment I came across as a bit 'prickly ' , as I said, been overdoing things this last two weeks & now beginning to suffer for it.

I now understand, that all you were saying is that it's impossible to go into the genetic factors, which is true , far too complex - and not that anyone with a genetic component is ineligible to be on this forum.

Fatigue making me far too over sensitive ...

Of course Damseltree has to exclude other diagnosis possibilities.

When I became ill I was surprised that I did not seen to have a more obvious PA absorption type problem, in common my relatives.

Just wondering if my cause of deficiency may turn out to be more prevalent than is currently believed, if the day ever comes when patients are more thoroughly investigated.

Thanks to you and everyone who contributes here for all the help & expert guidance, much appreciated.

[Joesmum]

Have you had your thyroid checked?

[Coachlady11]

Get a second opinion

My dad had these symptoms and his doctor said it wasn’t Parkinson’s

His doctor then retired and a new one said straight away that it was

He went for 3 years with an incorrect diagnosis and no treatment.

I’m not suggesting that that is what your problem is but a second opinion couldn’t hurt

[Mohammed1985]

What level is it and which country are you in I just had my b12 checked and it's bang on the lower end and they said it's ok but I have read you rather have it towards the higher end of the figure for good health rather than on the lower end same goes for vitamin d

[Gambit62 Administrator in reply to Mohammed1985]

the serum B12 test is only accurate to 20% so you may well be deficient if it is hovering around the low end and you are symptomatic.

If you have had B12 tested earlier and it was above that then it would be good evidence that you have an absorption problem.

People differ a lot in what serum B12 levels they need and your body will use stores in the liver to regulate at the level that is right for you. If you have an absorption problem though this doesn't work (because it uses the same mechanism as you use to absorb B12 from your diet) and your serum levels start to fall.

Some people will actually be okay at the bottom of the range - there isn't actually a general 'optimal level' for B12 that can be applied to everyone.

[Damseltree]

Getting second opinion. Meanwhile i have stopped all vitamin supplements in anticipation of further blood tests which should avoid any inflated readings. It's possibly going to be a long road ahead of tests for different diseases.