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Links to information on B12 Deficiency & Pernicious Anemia
Websites
Sally Pacholok, B12 deficiency advocate, Registered Nurse, and author of "Could it Be B12? An Epidemic of Misdiagnosis"
Pages include
Stichting B12 Tekort, a Netherlands registered charity
Pages include
The landing page in English with surveys, videos, and links to NICE and BCSH guidelines for the UK
Their articles in English such as Overview of B12D, Neuropsychiatric symptoms, High dose treatment is safe, Testing during Treatment, Intrinsic factor, MMA, Serum B12 may be insufficient, and Misconceptions
Tracey Witty, B12 deficiency advocate
A very comprehensive site. Take your time to go through it. Some useful pages include
What to do next? - Testing, Treatment, Maintenance doses, Supplements
Writing to your Doctor - Includes templates for requesting more frequent injections, asking to be taught to self-injection, when you're symptomatic but "normal" B12, and many more. Includes extracts from UK NICE/BCSH/BNF guidelines.
Videos
Diagnosing and Treating Vitamin B12 Deficiency, narrated by Sally Pacholok
Movie about Sally Pacholok: “Feisty ER Nurse takes on the medical establishment when she uncovers an epidemic of misdiagnosis.”
Scientific articles
This section is not intended to be a comprehensive overview of all B12/PA papers. We will try to put a select few overview papers, along with any new interesting research.
Case studies of six patients. Includes a table on "Misconceptions and Misbeliefs" associated with B12D. Full text available.
Wolffenbuttel BHR, Wouters HJCM, Heiner-Fokkema MR, van der Klauw MM. The Many Faces of Cobalamin (Vitamin B12) Deficiency. Mayo Clin Proc Innov Qual Outcomes. 2019 May 27;3(2):200-214. doi: 10.1016/j.mayocpiqo.2019.03.002. PMID: 31193945; PMCID: PMC6543499.
Discusses Functional B12 deficiency due to "macro-B12": when B12 is bound to an immunoglobulins, rendering it unusable to the body. The macro-B12 molecule is picked up by the standard serum B12 test, making it appear as if one's B12 levels are normal. Treatment with B12 injections eliminated almost all of the patient's neurological symptoms. Full text available.
Wolffenbuttel BHR, Muller Kobold AC, Sobczyńska-Malefora A, Harrington DJ. Macro-B12 masking B12 deficiency. BMJ Case Rep. 2022 Jan 13;15(1):e247660. doi: 10.1136/bcr-2021-247660. PMID: 35027389; PMCID: PMC8762123.
Discusses Functional B12 deficiency. The patient presented with neurological symptoms suggestive of B12 deficiency, but serum levels were normal. Treatment with B12 injections eliminated almost all of the patient's neurological symptoms. Full text available.
Franques J, Chiche L, Mathis S. Sensory Neuronopathy Revealing Severe Vitamin B12 Deficiency in a Patient with Anorexia Nervosa: An Often-Forgotten Reversible Cause. Nutrients. 2017 Mar 15;9(3):281. doi: 10.3390/nu9030281. PMID: 28294987; PMCID: PMC5372944.
"It is concluded that Cbl [cobalamin; B12], MMA, and HCys levels fluctuate with time and neither predict nor preclude the presence of Cbl-responsive hematologic or neurologic disorders." Full text available.
Lawrence R. Solomon; Cobalamin-responsive disorders in the ambulatory care setting: unreliability of cobalamin, methylmalonic acid, and homocysteine testing. Blood 2005; 105 (3): 978–985. doi: https://doi.org/10.1182/blood-2004-04-1641.
Recent articles on Inborn errors of cobalamin deficiency (genetic B12 deficiency)
David Watkins, David S. Rosenblatt, Chapter Thirteen - Inherited defects of cobalamin metabolism, Vitamins and Hormones, Volume 119, 2022, Pages 355-376, doi.org/10.1016/bs.vh.2022.01.010 (Full text not available)
Kalantari, S., Brezzi, B., Bracciamà, V. et al. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. Orphanet J Rare Dis 17, 33 (2022). https://doi.org/10.1186/s13023-022-02179-y (Full text available)
More to come...