08-07-2014
Guidelines for the diagnosis and treatment of cobalamin and folate disorders
British Journal of Haematology, juni 2014

Klik hier voor de richtlijn.

Summary of key recommendations

1. The clinical picture is the most important factor in assessing the significance of test results assessing cobalamin status because there is no ‘gold standard’ test to define deficiency.

2 Serum cobalamin currently remains the first-line test, with additional second-line plasma methylmalonic acid to help clarify uncertainties of underlying biochemical/functional deficiencies. Serum holotranscobalamin has the potential as a first-line test, but an indeterminate ‘grey area’ may still exist. Plasma homocysteine may be helpful as a second-line test, but is less specific than methylmalonic acid. The availability of these second-line tests is currently limited.

3. Definitive cut-off points to define clinical and subclinical deficiency states are not possible, given the variety of methodologies used and technical issues, and local reference ranges should be established.

4. In the presence of discordance between the test result and strong clinical features of deficiency, treatment should not be delayed to avoid neurological impairment.

5.Treatment of cobalamin deficiency is recommended in line with the British National Formulary. Oral therapy may be suitable and acceptable provided appropriate doses are taken and compliance is not an issue.

6. Serum folate offers equivalent diagnostic capability to red cell folate and is the first-line test of choice to assess folate status.

In patients with classical megaloblastic anaemia, the presence of a low serum cobalamin level and objective assessment of response in terms of the rise in haemoglobin concentration clearly outlines the treatment pathway. However, the majority of patients do not have such a clear-cut picture. Neurological presentation (peripheral neuropathy, sub-acute combined degeneration of the cord) may occur in the absence of haematological changes, and early treatment is essential to avoid permanent neurological disability.

Furthermore, patients with strong clinical features of cobalamin deficiency may have serum cobalamin levels that lie within the reference range (false normal cobalamin level)

Deze richtlijn is een heel eind in de goede richting op het gebied van B12-tekort. De orale behandeling waar ook over wordt gesproken is niet "evidence-based".

| Naar de beginpagina |