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Pernicious anemiaDefinition Pernicious anemia is caused by a lack of intrinsic factor, a substance needed to absorb vitamin B-12 from the gastrointestinal tract. Vitamin B-12 is necessary for the formation of red blood cells. Anemia is a condition where red blood cells are not providing adequate oxygen to body tissues. There are many types and causes of anemia. (See the general article - anemia) Pernicious anemia is a type of megaloblastic anemia. Causes, incidence, and risk factors Intrinsic factor is a protein that helps the body absorb vitamin B-12. When stomach secretions do not have enough intrinsic factor, vitamin B-12 is not absorbed well. This results in pernicious anemia and other problems related to low levels of vitamin B-12. Nerve and blood cells need vitamin B-12 to function properly, so deficiency can cause a wide variety of symptoms, including fatigue, shortness of breath, tingling sensations, difficulty walking, and diarrhea. 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. Absence of intrinsic factor itself is the most common cause of vitamin B-12 deficiency. Intrinsic factor is produced by cells in the stomach. In adults, the inability to make intrinsic factor can be the result of chronic gastritis or the result of surgery to remove the stomach. The onset of the disease is slow and may take decades. Very rarely, infants and children are born lacking the ability to produce effective intrinsic factor. This form of congenital (born with) pernicious anemia is inherited as an autosomal recessive disorder (you need a defective gene from each parent to get it). Most often, however, pernicious anemia and other forms of megaloblastic anemia in children results from other causes of vitamin B-12 deficiency or other vitamin deficiencies. Although a form of the disease can occur in children, pernicious anemia usually does not appear before age 30. The average age at diagnosis is 60. In fact, one recent study revealed that nearly 2% of individuals over 60 have pernicious anemia. Slightly more women than men are affected. The disease occurs in all racial groups, but occurs most often in people of Scandinavian or Northern European descent. Risk factors include a family history of pernicious anemia, Scandinavian or Northern European descent, and a history of autoimmune endocrine disorders. Pernicious anemia is seen in association with some autoimmune endocrine diseases such as 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 B-12 deficiency include:
Symptoms Many cells in our body need vitamin B-12, including nerve cells and blood cells. Inadequate vitamin B-12 gradually affects sensory and motor nerves, causing neurological problems to develop over time. It is important to know that the neurological effects of vitamin B-12 deficiency may be seen before anemia is diagnosed. The anemia also affects the gastrointestinal system and the cardiovascular system. The following symptoms may indicate pernicious anemia:
Signs and tests Tests that may indicate pernicious anemia include:
This disease may also alter the results of the following tests:
Treatment Monthly vitamin B-12 injections are the definitive treatment to correct the vitamin B-12 deficiency. This therapy corrects the anemia and may correct the neurological complications if given soon enough. Since about 1% of vitamin B-12 is absorbed (even in the absence of intrinsic factor), some doctors recommend that elderly patients with gastric atrophy take oral vitamin B-12 supplements in addition to monthly injections. There is also a preparation of vitamin B-12 that may be given intranasally (in the nose). A well-balanced diet is essential to provide other elements such as folic acid, iron, and vitamin C for healthy blood cell development. Expectations (prognosis) The outcome is usually excellent with treatment. Complications
Calling your health care provider Call your health care provider if symptoms suggestive of vitamin B-12 deficiency develop. Prevention Pernicious anemia is not preventable, but with early detection and treatment of vitamin B12 deficiency, complications are readily controlled. Illustrations
Page Content: Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B-12 deficiency (malabsorption) |
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