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

1. Pernicious Anemia
Elliot Stieglitz

2. CBC and Iron

3. Electropheresis

4. Hemolytic Studies

5. Autoimmune

6. Pernicious Anemia

7. Post Rx CBC

8. Objectives
• Definition
• Pathophysiology
• Epi
• Clinical Symptoms
• PE findings
• Lab
• Treatment

9. Definition
• Pernicious
• highly destructive
• injurious
• baneful
• deadly

10. Vitamin B12
• Only metabolized by bacteria (fermentation)
• Meat and milk
• Most animals capable of conversion

11. DNA Synthesis
• MMA and HC
• Thymdine synthesis

12. B12 Deficiency
• Inadequate diet
• Loss of gastric mucosa
• Functionally abnormal IF
• Insufficient pancreatic enzymes (ZE)
• Ileal dysfunction
• Medication (Metformin and PPIs)

13. B12 and Folate

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. Pathophysiology
• Failure of gastric parietal cells to produce Intrinsic
Factor (IF)

17. Text

18. Antibodies
• IgG
• Type 1 vs II
• Placenta

19. 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

20. History
• First described by Dr Thomas Addison
• Fatal within 3 years till 1920

21. Epidemiology
• Incidence: 10 per 100,000
• Gender: Equal in US
• Age: 40-70
• Race
• Congenital

22. 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.

23. Clinical Features
• Weight loss
• Anemia: well tolerated
• Tongue
• Neurological
• parasthesias, numbness, tingling, ataxia
• various hypotheses

24. DNA Synthesis
• MMA and HC
• Thymdine synthesis

26. 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

27. PE Findings
• Waxy pallor
• Icterus
• Flabby
• Beefy red tongue

28. Glossitis

29. Lab Evaluation
• MCV, MCH, MCHC
• Confounding factors
• Leukopenia and thrombocytopenia
• MMA and HC
• Intramedullary hemolysis

31. Schilling Test

32. Treatment
• Vitamin B12
• Cyanocobalamin or hydroxocobalamin
• IM, SQ vs PO
• Nasal

35. Whipple Procedure

37. Summary
• Vit B 12 Deficiency
• Iron Deficiency
• Hemolytic Anemia
• Pica
• IF Ab

38. 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