Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption)

Pernicious anemia is caused by a lack of intrinsic factor. Intrinsic factor is a protein produced by the stomach that helps the body absorb vitamin B12. When stomach does not have enough intrinsic factor, it cannot properly absorb the vitamin. Nerve and blood cells need vitamin B12 to function properly.

Very rarely, infants and children are born without the ability to produce enough intrinsic factor. Congenital (born with) pernicious anemia is inherited as an autosomal recessive disorder (you need the defective gene from each parent to get it). Most often, however, pernicious anemia and other forms of megaloblastic anemia in children result from other causes of vitamin B12 deficiency or other vitamin deficiencies.

Other causes of low levels of intrinsic factor (and thus of pernicious anemia) include atrophic gastric mucosa, autoimmunity against gastric parietal cells, and autoimmunity against intrinsic factor.

The onset of the disease is slow and may take decades. Although the congenital form occurs in children, pernicious anemia usually does not appear before age 30. The average age at diagnosis is 60.

Risk factors include:

• Family history of the disease
• Scandinavian or Northern European descent
• History of autoimmune endocrine disorders, including type 1 diabetes, hypoparathyroidism, Addison's disease, hypopituitarism, testicular dysfunction, Graves disease, chronic thyroiditis, myasthenia gravis, secondary amenorrhea, and vitiligo

In addition to pernicious anemia, other causes of vitamin B12 deficiency include:

• Certain drugs, including colchicine, neomycin, and para amino salicylic acid used for tuberculosis treatment
• Gastrointestinal disease (stomach removal surgery, celiac disease, Crohn's disease)
• Infection (intestinal parasites, bacterial overgrowth)
• Metabolic disorders (methylmalonic aciduria, homocystinuria)
• Nutritional problems (strict vegetarians without B12 supplementation, poor diet in infant, or poor nutrition during pregnancy)

Too little vitamin B12 gradually causes neurological problems. It is important to know that the neurological effects may be seen before anemia is diagnosed.

Symptoms may include:

• Shortness of breath
• Fatigue
• Pallor
• Rapid heart rate
• Loss of appetite
• Diarrhea
• Tingling and numbness of hands and feet
• Sore mouth
• Unsteady gait, especially in the dark
• Tongue problems
• Impaired sense of smell
• Bleeding gums
• Positive Babinski's reflex
• Loss of deep tendon reflexes
• Personality changes, "megaloblastic madness"

Tests that may used to diagnose or monitor pernicious anemia include:

• Complete blood count
• Bone marrow examination (only needed if diagnosis is unclear)
• Measurement of serum holotranscobalamin II
• Measurement of methylmalonic acid (MMA)
• Reticulocyte count
• Serum LDH
• Schilling test
• Vitamin B12 level

This disease may also alter the results of the following tests:

• Bilirubin
• Cholesterol test
• Gastrin
• Leukocyte alkaline phosphatase
• Peripheral smear
• TIBC

Vitamin B12 deficiency affects the appearance of all epithelial cells, therefore an untreated woman may have a false positive pap smear.

Monthly vitamin B12 injections are prescribed to correct the vitamin B12 deficiency. This therapy corrects the anemia and may correct the neurological complications if taken soon enough.

Some doctors recommend that elderly patients with gastric atrophy take vitamin B12 supplements by mouth in addition to monthly injections.

There is also a preparation of vitamin B12 that may be given through the nose).

A well-balanced diet is essential to provide other elements for healthy blood cell development, such as folic acid, iron, and vitamin C.

The outcome is usually excellent with treatment.

People with pernicious anemia may have gastric polyps and get gastric cancer and gastric carcinoid tumors twice as often than the normal population.

Persistent neurological defects may be present if treatment is delayed.

Call your health care provider if symptoms suggestive of vitamin B12 deficiency develop.

There is no known prevention. However, with early detection and treatment of vitamin B12 deficiency, complications can be controlled.