The document summarizes a presentation on pernicious anemia. It reviews the diagnostic criteria, clinical presentation, diagnostic tests, and treatment for pernicious anemia. The gold standard diagnostic test is listed as the Schilling's test, though it is noted to now be obsolete. Common symptoms include fatigue, weight loss, gastrointestinal issues, and neurological symptoms. Diagnostic tests include bloodwork to check for anemia, methylmalonic acid and homocysteine levels, and anti-intrinsic factor antibodies. Treatment involves lifelong vitamin B12 supplementation through injections or oral supplementation alongside intrinsic factor.

1. Noon Conference
Nicki Jordan
04/17/2019

2. © 2016 Virginia Mason Medical Center 2
Objectives
• Review diagnostic criteria
• Discuss clinical presentation
• Discuss diagnostic tests
• Review illness script
• Discuss treatment

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Question 1
Question 1: What is the gold standard diagnostic test for
pernicious anemia?
A. Elevated methylmalonic acid and homocysteine levels
B. MCV >100
C. Schillings test
D. Diagnosis based on physical exam findings and patient
history alone
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Diagnostic Criteria
• Schilling’s test obsolete
• Diagnosis made primarily based on laboratory findings and
clinical suspicion as well as improvement with treatment
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Clinical Presentation
Affected Body Part Symptoms
Systemic Fatigue, weight loss, syncope, dizziness
Psychiatric/Neurological
Irritability, cognitive decline, memory loss,
confusion, depression, insomnia, peripheral
neuropathy, ataxia, loss of proprioception,
hyporeflexia, weakness
Head/Face
Glossitis, conjunctival pallor, vision loss, scleral
icterus
Chest SOB, chest pain, palpitations
Gastrointestinal Tract
Nausea, vomiting, heartburn, loss of appetite,
constipation, diarrhea, bloating
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Diagnostic Tests
CBC to check for anemia and pancytopenia
MCV > 100
B12 and folate levels
Methylmalonic acid and homocysteine levels
LDH, bilirubin
Peripheral blood smear
• Hypersegmented neutrophils
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Diagnostic Tests
Test for anti-intrinsic factor antibodies
Anti-parietal cell antibodies
Serum gastrin and/pepsinogen levels
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Question 2
How do you treat pernicious anemia?
A. IM B12 injections
B. Oral B12 supplementation
C. Intrinsic factor supplementation and B12 supplementation
(IM or oral)
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Illness Scripts
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Pernicious Anemia B12 Deficiency Secondary to
Celiac Disease
Pathophysiology
Autoimmune Gastritis
(Leading to a lack of intrinsic factor production)
OR
Intrinsic Factor Destruction
Malabsorption in small intestine
Epidemiology
M > F
Older adults
Most prevalent in people of European descent
Assoc. with DM type 1, vitiligo, and autoimmune
thyroiditis
F>M
Effects all ages
Most prevalent in people of European descent
Assoc. with DM type 1, Autoimmune thyroiditis Down
and Turner syndromes
Time course chronic chronic
Clinical
presentation
Pallor, fatigue, weight loss, glossitis,
hepatomegaly, edema, icterus, hyporeflexia,
muscle weakness, loss of proprioception,
numbness, psychiatric changes, abdominal
pain, bloating
Identical to B12 deficiency caused by
pernicious anemia plus with emphasis on GI
symptoms
Diagnostics
Labs: Megaloblastic, macrocytic anemia,
pancytopenia
Decreased: B12
Increased: MMA, homocysteine, gastrin,
bilirubin, LDH
Serologic testing: Anti-IF, Anti-parietal cell
Blood Smear: hypersegmented neutrophils
Labs: Megaloblastic, macrocytic anemia,
pancytopenia
Decreased: B12
Increased: MMA, homocysteine, bilirubin, LDH
Serologic testing: Tissue transglutaminase
(tTG)-IgA antibody
Blood Smear: hypersegmented neutrophils

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References
1. Carmel, R. (2008). Reassessment of the relative prevalences of antibodies to gastric parietal cell and to intrinsic factor in patients
with pernicious anaemia: Influence of patient age and race. Clinical & Experimental Immunology,89(1), 74-77.
doi:10.1111/j.1365-2249.1992.tb06880.x
2. Carmel, R. (2008). How I treat cobalamin (vitamin B12) deficiency. Blood,112(6), 2214-2221. doi:10.1182/blood-2008-03-
040253
3. Cattan, D. (2011). Pernicious anemia: What are the actual diagnosis criteria? World Journal of Gastroenterology,17(4), 543.
doi:10.3748/wjg.v17.i4.543
4. Andres, E., & Serraj. (2012). Optimal management of pernicious anemia. Journal of Blood Medicine,97. doi:10.2147/jbm.s25620
5. Pernicious Amenia. Volume 7 in the series Major Problems in Internal Medicine. (1976). Annals of Internal Medicine,85(6), 836.
doi:10.7326/0003-4819-85-6-836_2
6. Ciacci, C., Cirillo, M., Sollazzo, R., Savino, G., Sabbatini, F., & Mazzacca, G. (1995). Gender and Clinical Presentation in Adult
Celiac Disease. Scandinavian Journal of Gastroenterology,30(11), 1077-1081. doi:10.3109/00365529509101610
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