Pernicious Anemia (B12 Deficiency)
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Transcript of Pernicious Anemia (B12 Deficiency)
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Pernicious Anemia
Elliot Stieglitz
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CBC and Iron
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Electropheresis
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Hemolytic Studies
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Autoimmune
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Pernicious Anemia
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Post Rx CBC
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Objectives Definition
Pathophysiology
Epi
Clinical Symptoms
PE findings
Lab
Treatment
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Definition
Pernicious
highly destructive
injurious
baneful
deadly
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Vitamin B12
Only metabolized by bacteria (fermentation)
Meat and milk
Most animals capable of conversion
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DNA Synthesis
MMA and HC
Thymdine synthesis
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B12 Deficiency
Inadequate diet
Loss of gastric mucosa
Functionally abnormal IF
Insufficient pancreatic enzymes (ZE)
Ileal dysfunction
Medication (Metformin and PPIs)
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B12 and Folate
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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
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Pathophysiology
Failure of gastric parietal cells to produce
Intrinsic Factor (IF)
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Text
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Antibodies
IgG
Type 1 vs II
Placenta
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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
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History
First described by Dr Thomas Addison
Fatal within 3 years till 1920
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Epidemiology
Incidence: 10 per 100,000
Gender: Equal in US
Age: 40-70
Race
Congenital
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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 hereditarydisorders in children. Semin Hematol. 1999 Jan;36(1):19-34.
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Clinical Features
Weight loss
Anemia: well tolerated
Tongue
Neurological
parasthesias, numbness, tingling, ataxia
various hypotheses
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DNA Synthesis
MMA and HC
Thymdine synthesis
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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
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PE Findings
Waxy pallor
Icterus
Flabby
Beefy red tongue
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Glossitis
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Lab Evaluation
MCV, MCH, MCHC
Confounding factors
Leukopenia and thrombocytopenia
MMA and HC
Intramedullary hemolysis
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Schilling Test
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Treatment
Vitamin B12
Cyanocobalamin or hydroxocobalamin
IM, SQ vs PO
Nasal
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Whipple Procedure
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Summary
Vit B 12 Deficiency
Iron Deficiency
Hemolytic Anemia
Pica
IF Ab
R f Allen RH, Stabler SP, Savage DG, Lindenbaum J. Metabolic
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ReferencesAllen 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), ChurchillLivingston, New York 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.