Pernicious Anemia (B12 Deficiency)

7/29/2019 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.

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Pernicious Anemia (B12 Deficiency)