B12 deficiency at the heart of the matter

This little fella spent a long lime in hospital as a child following a diagnosis of Perthes disease (Legg-Calvé-Perthes disease).  Perthes is a childhood hip disorder caused by a disruption of blood flow to the ball of the hip joint.

By the time he was 30 years old he had suffered his first heart attack.

He died aged 37 following his third.

Born 1937 - Died 1973

Born 1937 – Died 1973

 

Just prior to his first heart attack he experienced intense jaw pain whilst digging the garden and his face drained of colour. In between the 2nd and 3rd attacks he experienced flu-like symptoms but no chest pain and none of the other classic symptoms associated with heart attack. These details were a surprise to me and may be to you too.

This handsome young man was my dad and I inherited many things from him including his hair, a love of woolly jumpers and furniture making skills. (I don’t make a habit of keeping model aeroplanes under my bed though).

Amongst those interesting traits, I also inherited a clotting disorder; Factor V Leiden (FVL) and a myriad of genetic polymorphisms many of which are connected to B12 and folate methylation. (MTHFR, MTRR, MTR,CBS, and BHMT, to name a few).

No one knew why my dad had heart attacks and died so young and it has long remained a mystery, apart from his limp left over from Perthes disease, he appeared to be a fit and healthy young man.

I learned that I had FVL when I was trying to conceive and found that Perthes’ disease also has a connection to FVL. (see refs below).

With the help of genetic testing and the unravelling of my own medical history since being diagnosed as B12 deficient, there are now clear indications of  my dad’s underlying B12 and folate methylation problems.

These coupled with an undiagnosed clotting disorder could have contributed to – or could perhaps be the cause of his death? I wouldn’t mind betting that he had a sky-high homocysteine level but it’s doubtful that testing for this would have been on any radar and even today it’s tricky (if not impossible) to persuade a GP to test.

High homocysteine is known to be strong risk factor for cardiovascular disease, it is a an amino acid which rises to a toxic level in patients with low, B12, B6 and B9 (folate).  If a high homocysteine level is present and the patient also has FVL then research shows there is an even greater risk of Cardiovascular problems.

I was thankful that the GP I saw upon diagnosis of my B12 deficiency seemed to understand the problems associated with FVL and low B12 and I was reassuringly told -‘We’ll have to look after you’. Sadly this statement was quickly forgotten and the silly games regarding strict rationing of life giving B12 injections began.

I contacted many cardiologists to invite them to the conference we held in May but there was a total lack of interest. They receive millions of pounds in research grants but they don’t appear to want to look at the basics. It is a crying shame they didn’t hear Sally Pacholok and Malcolm Kendrick speak, but when their research money comes from pharmaceutical companies I expect they feel their hands are tied.

On health questionnaires we are often asked if we have a history of certain conditions, it seems that with a shrug of the GP’s shoulders, you must understand that you may succumb to heart attack, Alzheimer’s, or bipolar if they are prevalent conditions in your family (they are in mine). That you just have to take it on the chin and await what comes your way.

Many of us who read and research B12 deficiency, join up the dots early. We know that these conditions and many more can all be related to low B12 and that if we are given vital B12 injections at the frequency we need then we can live healthily and happily. We may also feel that the outcome for many of our loved ones might have been different had the full knowledge of B12 deficiency been available to the clinicians in charge of their care.

We want our doctors to discover and understand this too so we send them journals, advise them to read ‘Could it be B12?’ We lay the facts out in black and white, but we are often ignored, ridiculed and neglected. We understand that this action of trying to educate is irritating to doctors but what else can we do?

We are fighting for our lives whilst we wait for the medical community to catch up.

To see who is at risk of B12 deficiency, please click here http://www.b12deficiency.info/who-is-at-risk/ 

Raising awareness; http://www.b12deficiency.info/how-you-can-help/

Please sign and share this petition, let’s get it over 10,000 signatures; https://www.change.org/p/ian-hudson-please-make-our-life-saving-injectable-vitamin-b12-hydroxocobalamin-available-over-the-counter?

Best wishes, Tracey

www.b12deficiency.info

Ann Intern Med. 1997 Nov 15;127(10):895-903.
Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective.
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http://www.ncbi.nlm.nih.gov/pubmed/9382368
J Orthop Res. 2014 Jan;32(1):1-7. doi: 10.1002/jor.22473. Epub 2013 Aug 27.
Meta-analysis of hypercoagulability genetic polymorphisms in Perthes disease.
Woratanarat P1, Thaveeratitharm C, Woratanarat T, Angsanuntsukh C, Attia J, Thakkinstian A.
http://www.ncbi.nlm.nih.gov/pubmed/23983171
J Bone Joint Surg Am. 2004 Dec;86-A(12):2642-7.
Legg-Calve-Perthes disease and thrombophilia.
Balasa VV1, Gruppo RA, Glueck CJ, Wang P, Roy DR, Wall EJ, Mehlman CT, Crawford AH.
http://www.ncbi.nlm.nih.gov/pubmed/15590848
Acta Orthop Belg. 2007 Oct;73(5):612-7.
Thrombophilia and Legg-Calvé-Perthes disease: is it a causative factor and does it affect the severity of the disease?
Moens P1, Defoort K, Vancampenhout A, Peerlinck K, Fabry G.
http://www.ncbi.nlm.nih.gov/pubmed/18019917
J Pediatr Orthop. 2007 Oct-Nov;27(7):834-7.
Legg-Calve-Perthes disease, venous and arterial thrombi, and the factor V Leiden mutation in a four-generation kindred.
Glueck CJ1, Tracy T, Wang P.
http://www.ncbi.nlm.nih.gov/pubmed/17878795
Thromb J. 2014 Dec 16;12(1):30. doi: 10.1186/s12959-014-0030-0. eCollection 2014.
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis.
Awan Z1, Aljenedil S2, Rosenblatt DS3, Cusson J4, Gilfix BM2, Genest J5.
http://www.ncbi.nlm.nih.gov/pubmed/25516723
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J Med Assoc Thai. 2000 May;83(5):536-42.
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Role of polymorphisms in factor V (FV Leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes as risk factors for thrombophilias.
Miranda-Vilela AL1.
http://www.ncbi.nlm.nih.gov/pubmed/22512572

Please stop treating vitamin B12 deficiency as the poor relation to pernicious anaemia, this discrimination can seriously harm patients!

Autoimmune pernicious anaemia (PA) is just one of many causes but it’s clear that many doctors consider it to be the only serious cause of B12 deficiency and therefore the only one worth treating with B12 injections. This is due to lack of education on this subject which for most, is usually lumped in with anaemia. It is important to note that anaemia (macrocytosis) is not always present in B12 deficient patients.

In fact ALL causes of this debilitating condition require correct and adequate treatment and it is ALWAYS SERIOUS if it remains undiagnosed and untreated. Remember this condition attacks the central and peripheral nervous system, all body systems and all ages, not just elderly women. B12 is vital for the production of red blood cells and for DNA synthesis.

It seems the majority of doctors – worldwide, have only really learnt about PA and limited information at that. This means that they can neglect and under treat seriously B12 deficient patients. Up to 60% of patients who fail to achieve the correct diagnosis of PA due to the inaccurate diagnostic tests (gastric intrinsic factor antibodies & parietal cell antibodies), may be given an extremely poor deal along with those of us who do not have PA but are B12 deficient due to other causes.

The widespread use of Metformin and Omeprazole to name just two drugs, which stop absorption of B12 from food, cause untold damage. In the case of the diabetic drug Metformin, a doctor may confuse the tingling and numbness in fingers and toes caused by B12 deficiency with diabetic neuropathy, thereby potentially condemning the patient to serious and permanent nerve damage.

Neither of these drugs (and many others) fully warn the user, or the prescriber, on the ‘Patient information leaflet’ (PIL) of prolonged usage causing B12 deficiency.

Most patients with B12 deficiency will require B12 injections FOR LIFE, whether they have; coeliac disease, have had a gastric bypass, atrophic gastritis, Crohn’s disease, genetic mutations, advanced liver disease they all need injections and NOT the low dose cyanocobalamin oral tablets which doctors with lack of knowledge prescribe. Please note there are many more causes of this condition.

There are however some causes of B12 deficiency which CAN be temporary;

• Helicobacter Pylori – Provided this bacterial infection has been short-term and that
H-pylori lesions have not damaged the wall of the stomach or duodenum the patient can recover from this deficiency. If damage has occurred then B12 injections will be required for life.

• Parasites, such as fish tapeworms, or Giardia lamblia – ONLY IF these infestations are correctly diagnosed and effectively eradicated B12 deficiency can be corrected with appropriate treatment. Unfortunately parasitic infestations are hard to confirm as the diagnostic tests for these are also prone to flaws and frequently miss ‘host’ patients who would otherwise be able to absorb B12 from their diet.

Patients using stomach acid lowering drugs (H2 Blockers, PPI’s and antacids) have a secondary problem alongside a resulting B12 deficiency; a greater vulnerability to parasites which can unfortunately lurk undetected for years. These patients may have a very poor chance of naturally ridding themselves of these invaders who interfere with normal B12 absorption and compete for any B12 present in the diet. A healthy level of stomach acid is required to kill off these parasites.

Many B12 deficient patients, whatever the cause, are discriminated against and treated as second class citizens every day, in treatment terms, but a doctor who does not understand the myriad of causes of this condition could cause serious harm by assuming oral tablets will be absorbed and correct a deficiency.

If Type 1 and Type 2 diabetes patients were treated with the same level of discrimination, there would be uproar. Imagine doctors only allowing type 1 patients insulin but sending all type 2 patients off to simply look at a pig?

If you are a doctor who has learned only about PA and your patient does not test positive for IFA or PCA then you must still treat this patient properly whilst exploring other causes, and remember they may have a parasite that tests can’t detect.

•  If you can’t find the cause please remember this is not the fault of the patient

•  Treat their symptoms, and don’t assume it is ‘all in their mind’

•  Give them loading doses (6 injections over two weeks)

•  And if they have NEUROLOGICAL symptoms REMEMBER to continue their loading doses until their symptoms STOP IMPROVING, as per NICE and BNF Guidelines.

Best wishes, Tracey

The difficulties with vitamin B12.
We discuss the management of patients who present with neurological manifestations of vitamin B12 deficiency; highlighting the fact that parenteral replacement is needed in such cases, even if the serum vitamin B12 level appears to be normal.
http://www.ncbi.nlm.nih.gov/m/pubmed/27009308/?i=5&from=b12

http://cks.nice.org.uk/anaemia-b12-and-folate-deficiency#!scenariorecommendation:4

Information on PA Tests – http://www.b12deficiency.info/assets/pat-kornic-testing-f.pdf

http://www.b12deficiency.info/what-are-the-causes/

http://www.b12deficiency.info/what-to-do-next/

Raising awareness; http://www.b12deficiency.info/how-you-can-help/

Please sign and share our petition;

http://www.change.org/en-GB/petitions/ian-hudson-please-make-our-life-saving-injectable-vitamin-b12-hydroxocobalamin-available-over-the-counter