10th One Carbon, homocysteine and B-vitamins conference Nancy July 7th-10 2015

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Afgelopen juli was Clara Plattel als afgevaardigde van de B12-Deficiency Research Group NL participant tijdens het ‘10th One Carbon, homocysteïne and B-vitamins conference’ gehouden in de Medische Faculteit van de Universiteit van Nancy. Verschillende top-wetenschappers (merendeel biochemici) uit de hele wereld presenteerden interessante uitkomsten uit hun onderzoeksveld en er was veel ruimte om onderzoek en klinische ervaringen te delen.

Een item kwam heel duidelijk naar voren: de noodzaak voor een snelle diagnostiek en behandeling bij B12-tekort vanwege de complicaties die kunnen ontstaan door onbehandelde (onderbehandeld) vit B12-tekort. Complicatie is daarbij dat de klassieke presentatie van B12-tekort (Pernicieuze Anemie) steeds minder vaak voorkomt. Dit correleert met onze nog niet gepuliceerde data: 18,5 % van de vrouwen met B12 waarde < 150 pmol/L had slechts anemie (bloedarmoede).

Bloedarmoede als eerste biomarker voor B12-deficientie (zelfs voor Pernicious Anemia) is volstrekt ontoereikend. Helaas leeft dit nog steeds te vaak onder behandelende artsen. Hieronder de samenvatting van de presentatie van Dr. Ralph Green, door hem gehouden tijdens de conferentie in Nancy. Hij hamert mede op de noodzaak van tijdige diagnose en behandeling van B12-tekort en je niet te laten misleiden door de gevarieerdheid van de symptomatologie bij B12-tekort.

Als aanvullend commentaar op het relaas van Dr. Green willen wij graag nog stellen dat het belangrijk is om te kijken naar de klinische verschijnselen, door te vragen bij de patiënt en niet blind te staren op de bloedwaarden.

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The protean faces of vitamin B12 deficiency – master of disguises

Dr. Ralph Green, 
University of California, Davis, CA, USA

Background: Vitamin B12 deficiency has many faces. The classical features of established B12 deficiency are well described in the paradigm of pernicious anemia. Typical manifestations consist of a macrocytic anemia associated with glossitis, jaundice and neurological complications. Neurological complications usually include sensory and motor spinal cord involvement. In recent years atypical presentations have been identified with greater frequency. In a patient with suspected B12 deficiency, confirmation of the diagnosis is based on the results of one or more laboratory tests. Missed or delayed diagnosis may result in irreversibility of an otherwise treatable disorder. Reasons for the protean manifestations of B12 deficiency can be explained or deduced from a consideration of underlying pathogenetic mechanisms. Because the neurological complications of B12 deficiency can be devastating and are preventable as well as often correctible, it is important for physicians to have a high index of suspicion of the disease and to carry out necessary tests to either identify or exclude its presence.

Objective: The goal of this presentation is to identify the different faces of B12 deficiency and to show examples of mechanisms that disguise or mask its appearance.

Design: Reasons for masking of the classical features of B12 deficiency are examined through the use of case examples and discussion of the mechanisms responsible for obscuring typical features of the condition.

Results and Conclusions: Several common causes of masking of the features of B12 deficiency are identified:

  1. Macrocytosis may be masked by a coexistent microcytic process such as iron deficiency.
  2. Anemia may be absent and the only clinical manifestation of B12 deficiency may be neurological. This may be attributable to adequacy of or treatment with folic acid, which can ameliorate the hematological effects of B12 deficiency.
  3. The neurological manifestations may also take different forms, such as dementia and visual or autonomic disturbances, which may result in misdiagnosis of other neurodegenerative diseases including Alzheimer’s disease and multiple sclerosis.
  4. Plasma B12 level may be spuriously normal because of increased levels of the binding protein haptocorrin. The availability of new combinations of diagnostic tests that enable ascertainment of the existence of biochemically significant B12 deficiency greatly facilitates diagnosis by making it possible to determine whether or not a patient is, in fact, B12 deficient.

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We also like to state that: don’t forget to look at the clinical signs.

Abstract taken from:

Scientific Program of 10th International Conference Metabolism, Vitamins-B and homocysteïne, Nancy Faculty of Medicine, July 7th -11 2015

We like to express our gratitude to:

  • Dr. Ralph Green, clinical pathologist and Professor at the Department of Medical Pathology and Laboratory Medicine UC Davis Medical Center, for his personal permission to publish his abstract on our website. http://www.ucdmc.ucdavis.edu/pathology/our_team/faculty/greenr.html
  • Dr. Jean-Louis Guéant, Professor at the Medical Faculty of the University of Lorraine Nancy and organiser of the conference, for his kind permission to publish this abstract.

© Clara Plattel and © Ralph Green on his sited comments

Founder Vitamin B12-Defiency Research Group

General Manager | Research Coordinator

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