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Diagnosis and Effect of Folate and Vitamin B12 Deficiency

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

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Diagnosis and Effect of Folate and Vitamin B12 Deficiency

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  1. Diagnosis and Effect of Folate and Vitamin B12 Deficiency Leigh Ann Martin Advisor: Gilbert A. Boissonneault, PhD, PA-C, CN

  2. 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

  3. 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

  4. 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

  5. Effects on the Body---Folate • Main manifestations • glossitis, symptoms of anemia (weakness, pallor, shortness of breath), and GI problems (weight loss and infertility) • Lab work • an increase in MCV-- larger than 96 fL • Best test for folate levels is the red blood cell level • 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

  6. Effects on the Body—vitamin B12 • Main manifestations • 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 • Lab work • 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

  7. 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

  8. 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

  9. Treatment • Distinguishing between the two vitamin deficiencies • Treatment is to supply the vitamin

  10. Conclusion • Both deficiencies present very much alike • Important to distinguish between the two • Monitor patients on anticonvulsants

  11. References • 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.

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