B12 Deficiency Patient Support Group A forgotten illness - Getting your life back

I support previous Vitamin B12 deficiency research that has shown that Cobalamin deficiency must be suspected in all patients with unexplained neuro-psychiatric symptoms or unexplained anaemia. Special attention should be paid to patients at risk of developing cobalamin deficiency such as elderly people, vegetarians, HIV-infected patients, patients with gastrointestinal disease and patients with auto-immunity or a family history of vitamin B12 Deficiency symptoms.

It has long been recognised that cobalamin deficiency, whatever its cause, induces two kinds of abnormalities, haematological and neurological disorders. In addition, many patients develop gastro-intestinal symptoms, but the haematological and neurological manifestations dominate. Today cobalamin deficiency is often treated prior to the development of overt symptoms, a fact that has changed our view on the clinical picture. The message is clear, anaemia and macrocytosis are not present in all cases of cobalamin deficiency and discrete neuro-psychiatric problems are often the only signs of vitamin B12 deficiency symptoms.

At one time B12 deficiency was synonymous with macrocytic anaemia, but vitamin B12 deficiency research has helped us recognise that many patients with pernicious anaemia (PA), the best example of this deficiency may present without either anaemia or macrocytosis which are late signs of the disease process. In most cases, however, the marrow will show megaloblastic changes.

The clinical picture is of utmost importance when interpreting a Vitamin B12 Assay result. Meticulous clinical assessment including assessment of other auto-immune conditions and taking a family history is important given that a single ideal test is not available so far. Empirical treatment (therapeutic trial for 3 months) to assess any clinical response and to prevent cognitive and neurological damage may be pragmatically justifiable as the damage of treatment is negligible and avoids the sometimes devastating consequence of non treatment.

Incidence and Prevalence within the UK population Vs Our Practice population

Megaloblastic anaemia /Pernicious anaemia due to B12 Deficiency:
Presenting with anaemia and Macrocytosis. – B12 Level <150ng/L

Vitamin B12 Deficiency with Neuro-Psychiatric Symptoms and other features with or without Anaemia or Macrocytosis. With or without GI, GU, other signs and symptoms.B12 level<300ng/L (stages I, II, III and IV)

 Conclusions:

This study highlights to me the problem of solely relying on the serum Vitamin B12, Hb% and MCV level to arrive at a diagnosis of B12 Deficiency and emphasizing the importance of taking into account the overall clinical picture before prejudging the significance of the vitamin B12 assay result, the hematological indices and biochemical features. To summarise:

• B12 deficiency should be suspected in all subjects presenting with neuro-psychiatric symptoms
• Should be suspected in non-vegetarian and healthy young adults
• Haematological manifestations of B12 deficiency (Addisonian criteria) may present only at a very late stage (stage IV) than neurological and neuro-psychiatric symptoms.
• Delay in diagnosing and treating of this condition will result in neuro-psychiatric symptoms becoming permanent (irreversible)