Posibilidades diagnósticas y terapéuticas | 28 ENE 13

Deficiencia de vitamina B12

Una enfermedad de diagnóstico clínico y confirmación bioquímica difícil.
Autor/a: Dra. Sally P. Stabler N Engl J Med 2013;368:149-60.
INDICE:  1. Artículo | 2. Referencias

1. Stabler SP, Allen RH. Vitamin B12 deficiency as a worldwide problem. Annu Rev Nutr 2004;24:299-326.
2. Nielsen MJ, Rasmussen MR, Andersen CB, Nexø E, Moestrup SK. Vitamin B(12)
transport from food to the body’s cells-a sophisticated, multistep pathway. Nat Rev Gastroenterol Hepatol 2012;9:345-54.
3. Toh BH, Chan J, Kyaw T, Alderuccio F. Cutting edge issues in autoimmune gastritis. Clin Rev Allergy Immunol 2012;42:269-78.
4. Lindenbaum J, Healton EB, Savage DG, et al. Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med 1988;318:1720-8.
5. Healton EB, Savage DG, Brust JC, Garrett TJ, Lindenbaum J. Neurologic aspects of cobalamin deficiency. Medicine 1991;70:229-45.
6. Stabler SP. Megaloblastic anemias: pernicious anemia and folate deficiency. In: Young NS, Gerson SL, High KA, eds. Clinical hematology. Philadelphia: Mosby, 2006:242-51.
7. Stabler SP. Vitamin B12. In: Erdman JW Jr, MacDonald IA, Zeisel SH, eds. Present knowledge in nutrition. 10th ed. New York: Wiley-Blackwell, 2012:343-58.
8. Dalsania CJ, Khemka V, Shum M, Devereux L, Lachant NA. A sheep in wolf`s clothing. Am J Med 2008;121:107-9.
9. Andrès E, Affenberger S, Zimmer J, et al. Current hematological findings in cobalamin deficiency: a study of 201 consecutive patients with documented cobalamin deficiency. Clin Lab Haematol 2006;28:50-6.
10. Parmentier S, Meinel J, Oelschlaegel U, et al. Severe pernicious anemia with distinct cytogenetic and flow cytometric aberrations mimicking myelodysplastic syndrome. Ann Hematol 2012;91:1979-81.
11. Pittock SJ, Payne TA, Harper CM. Reversible myelopathy in a 34-year-old man with vitamin B12 deficiency. Mayo Clin Proc 2002;77:291-4.
12. Remacha AF, Souto JC, Piñana JL, et al. Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. Int J Hematol 2011;93:458-64.
13. Limal N, Scheuermaier K, Tazi Z, Sene D, Piette JC, Cacoub P. Hyperhomocysteinaemia, thrombosis and pernicious anaemia. Thromb Haemost 2006;96:233-5.
14. de Jager J, Kooy A, Lehert P, et al. Long term treatment with metformin in patients with type 2 diabetes and risk of vitamin B-12 deficiency: randomised placebo controlled trial. BMJ 2010;340:c2181.
15. Dror DK, Allen LH. Effect of vitamin The New England Journal of Medicine Downloaded from B12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms. Nutr Rev 2008;66:250-5.
16. Honzik T, Adamovicova M, Smolka V, Magner M, Hruba E, Zeman J. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency — what have we learned? Eur J Paediatr Neurol 2010;14:488-95.
17. Singer MA, Lazaridis C, Nations SP, Wolfe GI. Reversible nitrous oxide-induced myeloneuropathy with pernicious anemia: case report and literature review. Muscle Nerve 2008;37:125-9.
18. Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A. Inherited cobalamin malabsorption: mutations in three genes reveal functional and ethnic patterns. Orphanet J Rare Dis 2012;7:56.
19. Lewerin C, Jacobsson S, Lindstedt G, Nilsson-Ehle H. Serum biomarkers for atrophic gastritis and antibodies against Helicobacter pylori in the elderly: implications for vitamin B12, folic acid and iron status and response to oral vitamin therapy. Scand J Gastroenterol 2008;43:1050-6.
20. Hershko C, Ronson A, Souroujon M, Maschler I, Heyd J, Patz J. Variable hematologic presentation of autoimmune gastritis: age-related progression from iron deficiency to cobalamin depletion. Blood 2006;107:1673-9.
21. Wun Chan JC, Yu Liu HS, Sang Kho BC, et al. Pernicious anemia in Chinese: a study of 181 patients in a Hong Kong hospital. Medicine (Baltimore) 2006;85:129-38.
22. Savage DG, Lindenbaum J, Stabler SP, Allen RH. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med 1994;96:239-46.
23. Carmel R. How I treat cobalamin (vitamin B12) deficiency. Blood 2008;112:2214-21.
24. Pennypacker LC, Allen RH, Kelly JP, et al. High prevalence of cobalamin deficiency in elderly outpatients. J Am Geriatr Soc 1992;40:1197-204.
25. Sarafoglou K, Rodgers J, Hietala A, Matern D, Bentler K. Expanded newborn screening for detection of vitamin B12 deficiency. JAMA 2011;305:1198-200.
26. Stabler SP, Allen RH, Savage DG, Lindenbaum J. Clinical spectrum and diagnosis of cobalamin deficiency. Blood 1990;76:871-81.
27. Nexo E, Hoffmann-Lücke E. Holotranscobalamin, a marker of vitamin B-12 status: analytical aspects and clinical utility. Am J Clin Nutr 2011;94:359S-365S.
28. Schrempf W, Eulitz M, Neumeister V, et al. Utility of measuring vitamin B12 and its active fraction, holotranscobalamin, in neurological vitamin B12 deficiency syndromes. J Neurol 2011;258:393-401.
29. Heil SG, de Jonge R, de Rotte MC, et al. Screening for metabolic vitamin B12 deficiency by holotranscobalamin in patients suspected of vitamin B12 deficiency: a multicentre study. Ann Clin Biochem 2012;49:184-9.
30. Castelli MC, Friedman K, Sherry J, et al. Comparing the efficacy and tolerability of a new daily oral vitamin B12 formulation and intermittent intramuscular vitamin B12 in normalizing low cobalamin levels: a randomized, open-label, parallelgroup study. Clin Ther 2011;33(3):358.e2-371.e2.
31. Carmel R, Brar S, Agrawal A, Penha PD. Failure of assay to identify low cobalamin concentrations. Clin Chem 2000;46:2017-8.
32. Galloway M, Hamilton M. Macrocytosis: pitfalls in testing and summary of guidance. BMJ 2007;335:884-6.
33. Yang DT, Cook RJ. Spurious elevations of vitamin B12 with pernicious anemia. N Engl J Med 2012;366:1742-3.
34. Carmel R, Agrawal YP. Failures of cobalamin assays in pernicious anemia. N Engl J Med 2012;367:385-6. [Erratum, N Engl J Med 2012;367:976.]
35. Stabler SP, Marcell PD, Podell ER, et al. Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography–mass spectrometry. J Clin Invest 1988;81:466-74.
36. Stabler SP, Marcell PD, Podell ER, Allen RH, Lindenbaum J. Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography–mass spectrometry. J Clin Invest 1986;77:1606-12.
37. Rasmussen K, Vyberg B, Pedersen KO, Brøchner-Mortensen J. Methylmalonic acid in renal insufficiency: evidence of accumulation and implications for diagnosis of cobalamin deficiency. Clin Chem 1990;36:1523-4.
38. Kuzminski AM, Del Giacco EJ, Allen RH, Stabler SP, Lindenbaum J. Effective treatment of cobalamin deficiency with oral cobalamin. Blood 1998;92:1191-8.
39. Greibe E, Nexo E. Vitamin B12 absorption judged by measurement of holotranscobalamin, active vitamin B12: evaluation of a commercially available EIA kit. Clin Chem Lab Med 2011;49:1883-5.
40. American Dietetic Association, Dietitians of Canada. Position of the American Dietetic Association and Dietitians of Canada: vegetarian diets. J Am Diet Assoc 2003;103:748-65.
41. Institute of Medicine Food and Nutrition Board. Dietary reference intakes:  hiamin, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin and choline. Washington, DC: National Academies Press, 1998.
42. Bor MV, von Castel-Roberts KM, Kauwell GP, et al. Daily intake of 4 to 7 µg dietary vitamin B-12 is associated with steady concentrations of vitamin B-12related biomarkers in a healthy young population. Am J Clin Nutr 2010;91:571-7.
43. Berlin H, Berlin R, Brante G. Oral treatment of pernicious anemia with high doses of vitamin B12 without intrinsic factor. Acta Med Scand 1968;184:247-58.
44. Bolaman Z, Kadikoylu G, Yukselen V, Yavasoglu I, Baructa S, Senturk T. Oral versus intramuscular cobalamin treatment in megaloblastic anemia: a singlecenter, prospective, randomized open-label study. Clin Ther 2003;25:3124-34.
45. Bor MV, Cetin M, Aytaç S, Altay C, Ueland PM, Nexo E. Long term biweekly 1 mg oral vitamin B12 ensures normal hematological parameters, but does not correct all other markers of vitamin B12 deficiency: a study in patients with inherited vitamin B12 deficiency. Haematologica 2008;93:1755-8.
46. Kim HI, Hyung WJ, Song KJ, Choi SH, Kim CB, Noh SH. Oral vitamin B12 replacement: an effective treatment for vitamin B12 deficiency after total gastrectomy in gastric cancer patients. Ann Surg Oncol 2011;18:3711-7.
47. Rajan S, Wallace JI, Brodkin KI, Beresford SA, Allen RH, Stabler SP. Response of elevated methylmalonic acid to three dose levels of oral cobalamin in older adults. J Am Geriatr Soc 2002;50: 1789-95.
48. Eussen SJ, de Groot LC, Clarke R, et al. Oral cyanocobalamin supplementation in older people with vitamin B12 deficiency: a dose-finding trial. Arch Intern Med 2005;165:1167-72.
49. Yang HT, Lee M, Hong KS, Ovbiagele B, Saver JL. Efficacy of folic acid supplementation in cardiovascular disease prevention: an updated meta-analysis of randomized controlled trials. Eur J Intern Med 2012;23:745-54
50. Nachum-Biala Y, Troen AM. B-vitamins for neuroprotection: narrowing the evidence gap. Biofactors 2012;38:145-50.
51. England JD, Gronseth GS, Franklin G, et al. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) — report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM&R 2009;1:14-22.
52. Hirota WK, Zuckerman MJ, Adler DG, et al. ASGE guideline: the role of endoscopy in the surveillance of premalignant conditions of the upper GI tract. Gastrointest Endosc 2006;63:570-80.



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