Pernicious anemia

Answer 1

Definition

Pernicious anemia is a decrease in red blood cells that occurs when the body cannot properly absorb vitamin B12 from the gastrointestinal tract. Vitamin B12 is necessary for the proper development of red blood cells.

Pernicious anemia is a type of megaloblastic anemia.

See also: Anemia

Alternative Names

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

Causes, incidence, and risk factors

The body needs vitamin B12 to make red blood cells. To provide vitamin B12 to your blood cells, you need to eat enough foods containing vitamin B12, such as meat, poultry, shellfish, eggs, and dairy products.

To absorb vitamin B12, your body uses a special protein called intrinsic factor, which is released by cells in the stomach. The combination of vitamin B12 bound to intrinsic factor is absorbed in the last part of the small intestine.

When the stomach does not make enough intrinsic factor, the intestine cannot properly absorb vitamin B12.

Very rarely, infants and children are born without the ability to produce enough intrinsic factor, or the ability to absorb the combination of intrinsic factor and vitamin B12 in the small intestine. Pernicious anemia that occurs at birth (congenital) is inherited. You need the defective gene from each parent to get it.

Common causes of pernicious anemia include:

• Weakened stomach lining (atrophic gastritis)
• The body's immune system attacking the cells that make intrinsic factor (autoimmunity against gastric parietal cells) or intrinsic factor itself

The disease begins slowly and may take decades to fully establish. Although the congenital form occurs in children, pernicious anemia usually does not appear before age 30 in adults. The average age at diagnosis is 60.

Risk factors include:

• Family history of the disease
• History of autoimmune endocrine disorders, including:
  • Addison's disease
  • Chronic thyroiditis
  • Graves disease
  • Hypoparathyroidism
  • Hypopituitarism
  • Myasthenia gravis
  • Secondary amenorrhea
  • Type 1 diabetes
  • Testicular dysfunction
  • Vitiligo
• Scandinavian or Northern European descent

See also: Anemia - B12 deficiency for other causes of low vitamin B12 levels.

Symptoms

People with mild anemia may have no symptoms or very mild symptoms. More typical symptoms of vitamin B12 deficiency anemia include:

• Diarrhea or constipation
• Fatigue, lack of energy, or light-headedness when standing up or with exertion
• Loss of appetite
• Pale skin
• Problems concentrating
• Shortness of breath, mostly during exercise
• Swollen, red tongue or bleeding gums
• Nerve damage caused by vitamin B12 deficiency that has been present for a longer time may cause:
  • Confusion or change in mental status (dementia) in severe or advanced cases
  • Depression
  • Loss of balance
  • Numbness and tingling of hands and feet

Signs and tests

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

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

Pernicious anemia may also affect the results of the following tests:

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

Vitamin B12 deficiency affects the appearance of cells that form on the outer surface of the body and line inner passageways (epithelial cells). An untreated woman may have a false positive Pap smear.

Treatment

Monthly vitamin B12 injections are prescribed to correct the vitamin B12 deficiency. This therapy treats the anemia and may correct the neurological complications if taken early enough. In people with a severe deficiency, the injections are given more often at first.

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. For some people, taking vitamin B12 tablets by mouth in a very high dose can be an effective treatment.

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

Expectations (prognosis)

The outcome is usually excellent with treatment.

Any damage to nerves may be permanent, especially if treatment is not started within 6 months of when symptoms began.

Complications

People with pernicious anemia may have gastric polyps, and they are at increased risk for gastric cancer and gastric carcinoid tumors.

Brain and nervous system (neurological) problems may continue if treatment is delayed.

Calling your health care provider

Call your health care provider if you have symptoms of vitamin B12 deficiency.

Prevention

There is no known way to prevent this condition. However, with early detection and treatment of vitamin B12 deficiency, complications can be minimized.

References

Antony AC. Megaloblastic anemias. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 39.

Answer 2

Definition

Pernicious anemia is a decrease in red blood cells that occurs when your intestines cannot properly absorb vitamin B12.

See also:

• Megaloblastic anemia
• Anemia

Alternative Names

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

Causes, incidence, and risk factors

Pernicious ameia is a type of vitamin B12 anemia. The body needs vitamin B12 to make red blood cells. You get this vitamin from eating foods such as meat, poultry, shellfish, eggs, and dairy products.

A special protein, called intrinsic factor, helps your intestines absorb vitamin B12. This protein is released by cells in the stomach. When the stomach does not make enough intrinsic factor, the intestine cannot properly absorb vitamin B12.

Common causes of pernicious anemia include:

• Weakened stomach lining (atrophic gastritis)
• An autoimmune condition in which the body's immune system attacks intrinsic factor protein or the cells that make it.

Very rarely, pernicious anemia is passed down through families. This is called congenital pernicious anemia. Babies with this type of anemia do not make enough intrinsic factor or cannot properly absorb vitamin 12 in the small intestine.

In adults, symptoms of pernicious anemia are usually not seen until after age 30. The average age of diagnosis is age 60.

You are more likely to get this disease if you:

• Scandinavian or Northern European
• Have a family history of the condition

Certain diseases can also raise your risk. They include:

• Addison's disease
• Chronic thyroiditis
• Graves disease
• Hypoparathyroidism
• Hypopituitarism
• Myasthenia gravis
• Secondary amenorrhea
• Type 1 diabetes
• Testicular dysfunction
• Vitiligo

For information on other causes of low vitamin B12 levels, see: Anemia - B12 deficiency

Symptoms

Some people do not have symptoms. Symptoms may be mild.

They can include:

• Diarrhea or constipation
• Fatigue, lack of energy, or light-headedness when standing up or with exertion
• Loss of appetite
• Pale skin
• Problems concentrating
• Shortness of breath, mostly during exercise
• Swollen, red tongue or bleeding gums

If you have low vitamin B12 levels for a long time, you can have nervous system damage. Symptoms can include:

• Confusion
• Depression
• Loss of balance
• Numbness and tingling in the hands and feet

Signs and tests

The doctor or nurse will perform a physical exam. Tests that may be done include:

• Bone marrow examination (only needed if diagnosis is unclear)
• Complete blood count (CBC)
• Reticulocyte count
• Schilling test
• LDH
• Methylmalonic acid (MMA) level
• Vitamin B12 level

This list is not all-inclusive.

Pernicious anemia may also affect the results of the following tests:

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

A woman with low B12 levels may have a false positive Pap smear. That's because a vitamin B12 deficiency affects the cells certain cells, called epithelial cells, look.

Treatment

The goal of treatment is to increase your vitamin B12 levels.

• Treatment involves a shot of vitamin B12 once a month. Persons with severely low levels of B12 may need more shots in the beginning.
• Some patients may also need to take vitamin B12 supplements by mouth. For some people, high-dose vitamin B12 tablets taken by mouth work well, and shots are not needed.
• A certain type of vitamin B12 may be given through the nose.

Your doctor or nurse will also recommend eating a well-balanced diet.

Expectations (prognosis)

Patients usually do well with treatment.

It is important to start treatment early. Nerve damage can be permanent if treatment does not start within 6 months of symptoms.

Complications

People with pernicious anemia may have gastric polyps, and are more likely to develop gastric cancer and gastric carcinoid tumors.

Brain and nervous system problems may continue or be permanent if treatment is delayed.

Calling your health care provider

Call your health care provider if you have symptoms of vitamin B12 deficiency.

Prevention

There is no known way to prevent this type of vitamin B12 anemia. However, early detection and treatment can help reduce complications.

References

Antony AC. Megaloblastic anemias. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 39.

Antony AC. Megaloblastic anemias. In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 167.

Reviewed By

Review Date: 02/08/2012

Todd Gersten, MD, Hematology/Oncology, Palm Beach Cancer Institute, West Palm Beach, FL. Review provided by VeriMed Healthcare Network. Also reviewed by Linda J. Vorvick, MD, Medical Director and Director of Didactic Curriculum, MEDEX Northwest Division of Physician Assistant Studies, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington; David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.