Pernicious Anemia

1. Genetics

1.1. Strong family link

1.2. Congenital and juvenile forms thought to be inherited autosomal recessive trait

2. Risk Factors

2.1. More prevalent in females

2.2. Individuals with other autoimmune endocrine disorders

2.3. Being of Northern European or Scandinavian population

2.4. Family history

3. Diagnostic Tests

3.1. Family and medical history and physical exam

3.2. Complete blood count with peripheral smear

3.3. Vitamin B12 levels

3.4. Tests for the presence of autoantibodies to intrinsic factor or cells of the stomach's mucosa

3.5. Iron and iron binding capacity labs

3.6. Folate levels

3.7. Methylmalonic or homocysteine levels

3.8. Schilling test - used less often today

3.9. Possible bone marrow aspiration and biopsy

4. Pathophysiology/Etiology

4.1. Caused by failure of body to absorb vitamin B12, due to lack of intrinsic factor produced by stomach cells.

4.2. Loss of Stomach cells (parietal cells) which make intrinsic factor.

4.3. Loss of parietal cells MAY be due to the destruction of the body's own immune system (autoimmune condition)

4.4. Not as a result of a dietary deficiency

5. Common Findings

5.1. Fatigue/Shortness of breath

5.2. Weakness

5.3. Weight loss

5.4. Tingling and numbness in hands and feet

5.5. CLASSIC SYMPTOM: Smooth, beefy red tongue (glossitis)

5.6. Poor balance

5.7. Symptoms may not appear for years (average age 60). This is due to the body's ability to store vitamin B12 for years

5.8. Memory loss and poor concentration

5.9. Rapid heart rate

5.10. Jaundice or pallor

5.11. Loss of appetite

5.12. Diarrhea

5.13. Bleeding gums

5.14. Impaired sense of smell

6. Treatment

6.1. Intramuscular injection of 1mg vitamin B12 everyday for 1 week following diagnosis, then 1 mg every week for 4 weeks and then 1 mg monthly for the rest of the individual's life