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Diagnosis and Effect of Folate
and Vitamin B12 Deficiency
Leigh Ann Martin
Advisor: Gilbert A. Boissonneault, PhD, PA-C, CN
Background

Vitamins



Organic compounds that act as metabolic
catalysts
Two groups fat-soluble and water-soluble
Focus of today’s presentation: folate and
vitamin B12

Water-soluble vitamins important in the
formation of red blood cells, the nervous
system, and DNA
Pathophysiology
Folic acid and vitamin B12





Required for DNA synthesis and red cell maturation
Two vitamins combine in methionine synthase reaction
Methyl group is transferred to homocysteine to make methionine
Decrease in either leads to increase in homocysteine level
Premature Coronary Artery Disease Peripheral Vascular Disease
Pathophysiology


Deficiency leads to change in RBC shape
Megaloblastic anemia is a subgroup of macrocytic
anemias




Megaloblastic erythropoiesis when defect in DNA synthesis and
the cells are arrested at the G2 phase
Becomes a buildup of cells that do not synthesize DNA so
nucleus develops at a slower rate than the rest of the cell
Cytoplasm continues to grow due to RNA synthesis
Cells become larger and megalblastic
Effects on the Body---Folate

Main manifestations


Lab work


an increase in MCV-- larger than 96 fL
Best test for folate levels is the red blood cell level


glossitis, symptoms of anemia (weakness, pallor, shortness of
breath), and GI problems (weight loss and infertility)
this is the level in tissues and is not affected by recent intake
Recommended intake of folate for adults is 400
micrograms per day, and for women of childbearing age
is 600 micrograms per day
Effects on the Body—vitamin B12

Main manifestations



Lab work


same as those for folate but may be a more serious presentation
with peripheral neuropathy, degeneration of the spinal cord, or
demyelination of white matter of brain
Patient may present with difficulty walking, parasthesia, loss of
memory function, and a positive Romberg test
also shows an increase in size of MCV
Recommended intake of vitamin B12 for adults is 2.4
micrograms per day, and for women of childbearing age
is 2.6 micrograms per day
Anticonvulsant drugs and folate
deficiency

Recent Drug Study




Epileptic patients split into control and experimental group
Experimental group using Phenytoin, Carbamazepine, and
Valproic Acid
Patients taking the antiepileptic medications had
increased homocysteine levels and decreased red blood
cell levels of folate
Different Drugs


No difference in level of homocysteine between all drugs
Phenytoin shown to have lowest folic acid level
Hyperhomocysteinemia

Folate deficiency is number one cause


Hyperhomocysteinemia is less than 12
micromoles per liter
Closely related to CVD

American Heart Association reported that
47% of all patients with CVD had
hyperhomocysteinemia
Treatment


Distinguishing between the two vitamin
deficiencies
Treatment is to supply the vitamin
Conclusion
Both deficiencies present very much
alike
 Important to distinguish between the
two
 Monitor patients on anticonvulsants

References





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Wickramsinghe SN. Diagnosis of megaloblastic anemias. Blood Reviews.
2006; 20 (6), 299-318
Porth C. Essentials of Pathophysiology: concepts of altered health status.
Second Edition. Lippincott Williams and Wilkins. 2004; 168-169.
Dale DA, Federman DA, Antman KA, Atkinson JO, Cassel CH, Feldman MA
et al. ACP Medicine. Volume 1. 2006 Edition. New York: WebMD Inc;
2006.
Carmel RA. Laboratory Diagnosis of Megaloblastic Anemia. Medical
Progress. 1978 April;128(4):294-304.
Sener UF, Zorlu YA, Karguzel OG, Ozdamar OZ, Coker IS, et al. Effects of
common anti-epileptic drug monotherapy on serum levels of homocysteine,
Vitamin B12, folic acid and Vitamin B6. Seizure. 2006 Aug 24; 15: 79-85.
Sadeghian SA, Fallahi FA, Salarifar MO, Davoodi GH, Mahmoodian ME,
Fallah NA, et al. Homocysteine, vitamin B12 and folate levels in premature
artery disese. BMC Cardiovascular Disorders. 2006 Sept 26; 6: 38.