Pernicious anemia (Vitamin B12 deficiency)

7,247 views

Published on

Pediatric case presentation of pernicious anemia followed by a discussion of the disorder.

Published in: Health & Medicine
1 Comment
13 Likes
Statistics
Notes
No Downloads
Views
Total views
7,247
On SlideShare
0
From Embeds
0
Number of Embeds
8
Actions
Shares
0
Downloads
124
Comments
1
Likes
13
Embeds 0
No embeds

No notes for slide

Pernicious anemia (Vitamin B12 deficiency)

  1. 1. Pernicious Anemia Elliot Stieglitz
  2. 2. CBC and Iron
  3. 3. Electropheresis
  4. 4. Hemolytic Studies
  5. 5. Autoimmune
  6. 6. Pernicious Anemia
  7. 7. Post Rx CBC
  8. 8. Objectives • Definition • Pathophysiology • Epi • Clinical Symptoms • PE findings • Lab • Treatment
  9. 9. Definition • Pernicious • highly destructive • injurious • baneful • deadly
  10. 10. Vitamin B12 • Only metabolized by bacteria (fermentation) • Meat and milk • Most animals capable of conversion
  11. 11. DNA Synthesis • MMA and HC • Thymdine synthesis
  12. 12. B12 Deficiency • Inadequate diet • Loss of gastric mucosa • Functionally abnormal IF • Insufficient pancreatic enzymes (ZE) • Ileal dysfunction • Medication (Metformin and PPIs)
  13. 13. B12 and Folate
  14. 14. H. Pylori • Turkish study • Of 138 B12 deficient patients, 77 had HP • In all 31 who had HP eradicated B12 returned to normal w/o B12 • FUT2 secretor gene
  15. 15. Pathophysiology • Failure of gastric parietal cells to produce Intrinsic Factor (IF)
  16. 16. Text
  17. 17. Antibodies • IgG • Type 1 vs II • Placenta
  18. 18. Autoimmune • HLA A2,A3,A7 and Blood group A • Antiparietal cell Abs in 90% of PA • H-K ATPase • Chief Cells • 5% of population with Abs • 50% with Abs have PA • Associated with other autoimmune disease: • Thyroid, DM1,Addisons, UC
  19. 19. History • First described by Dr Thomas Addison • Fatal within 3 years till 1920
  20. 20. Epidemiology • Incidence: 10 per 100,000 • Gender: Equal in US • Age: 40-70 • Race • Congenital
  21. 21. Juvenile PA • Older children • + anti IF Abs • - anti parietal Abs • 50% with other autoimmune disease • mucocutaneous candidiasis • 45 cases documented in literature by 1999Rosenblatt DS, Whitehead VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol. 1999 Jan;36(1):19-34.
  22. 22. Clinical Features • Weight loss • Anemia: well tolerated • Tongue • Neurological • parasthesias, numbness, tingling, ataxia • various hypotheses
  23. 23. DNA Synthesis • MMA and HC • Thymdine synthesis
  24. 24. Pica • Unclear etiology but associated w/ IDA • Chicken or the Egg? • Odd cravings for non nutritional items • “Pagophagia”- Rx Glossitis? • Border of Turkey and Iran 1960s
  25. 25. PE Findings • Waxy pallor • Icterus • Flabby • Beefy red tongue
  26. 26. Glossitis
  27. 27. Lab Evaluation • MCV, MCH, MCHC • Confounding factors • Leukopenia and thrombocytopenia • MMA and HC • Intramedullary hemolysis
  28. 28. Schilling Test
  29. 29. Treatment • Vitamin B12 • Cyanocobalamin or hydroxocobalamin • IM, SQ vs PO • Nasal
  30. 30. Whipple Procedure
  31. 31. Summary • Vit B 12 Deficiency • Iron Deficiency • Hemolytic Anemia • Pica • IF Ab
  32. 32. References• Allen RH, Stabler SP, Savage DG, Lindenbaum J. Metabolic abnormalitiesin cobalamin (vitamin B12) and folate deficiency. FASEB J 1993;7:1344. • Green R, Kinsella LJ. Current concepts in the diagnosis of cobalamindeficiency. Neurology 1995; 45:1435. • Tefferi A, Pruthi RK.The biochemical basis of cobalamin deficiency.Mayo Clin Proc 1994; 69:181. • Anthony, CA. Megaloblastic anemias. In: Hematology: Basic Principlesand Practice, 2nd ed, Hoffman, R, Benz, EJ, Shattil, SJ, et al (Eds), Churchill Livingston, NewYork 1995. p.552. • Carmel R. Prevalence of undiagnosed pernicious anemia in the elderly.Arch Intern Med 1996; 156:1097. • Toh BH, van Driel IR, Gleeson PA. Pernicious anemia. N Engl J Med1997; 337:1441. • Carmel R. How I treat cobalamin (vitamin B12) deficiency. Blood 2008; 112:2214. • Guéant JL, Safi A,Aimone-Gastin I, et al.Autoantibodies in

×