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Pernicious anemia
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Pernicious anemia
Pernicious anemia is a
rare blood disorder characterized by the inability of the body to properly
utilize vitamin B12, which is essential for the development of red blood
cells. Most cases result from the lack of the gastric protein known as
intrinsic factor, without which vitamin B12 cannot be absorbed.
The symptoms of pernicious anemia may include weakness, fatigue, an upset
stomach, an abnormally rapid heartbeat (tachycardia), and/or chest pains.
Recurring episodes of anemia and an abnormal yellow coloration of the skin
(jaundice) are also common. Pernicious anemia is thought to be an autoimmune
disorder, and certain people may have a genetic predisposition to this
disorder.
There is a rare congenital form of pernicious anemia in which babies are
born lacking the ability to produce effective intrinsic factor. There is
also a juvenile form of the disease, but pernicious anemia typically does
not appear before the age of 30. The onset of the disease is slow and may
span decades. When the disease goes undiagnosed and untreated for a long
period of time, it may lead to neurological complications. Nerve cells and
blood cells need vitamin B12 to function properly.
Symptoms
Symptoms of pernicious anemia may include fatigue, shortness of breath,
rapid heart rate, jaundice or pallor, tingling and numbness of hands and
feet, loss of appetite, diarrhea, unsteadiness when walking, bleeding gums,
impaired sense of smell, and confusion.
The symptoms of juvenile pernicious anemia are usually obvious between the
ages of 4 and 28 months. Most affected infants develop a form of anemia
known as megaloblastic anemia. Large, immature red blood cells are found in
the blood (megaloblasts), impairing the ability of the blood to deliver
oxygen to the tissues of the body. Other types of blood cells (e.g.,
platelets and white blood cells) may also be deficient (pancytopenia).
Symptoms may include vomiting, diarrhea, fatigue, headache, inability to
sleep (insomnia), lack of appetite, failure to thrive, a yellow coloration
of the skin (jaundice), irritability, and/or a pale complexion. Mental
retardation is also common in infants with juvenile pernicious anemia.
Affected infants may experience repeated episodes of extreme anemia and
jaundice. Some children with the juvenile form of the disease have blood
protein present in their urine and some may have urinary tract
malformations.
Individuals with
congenital pernicious anemia present with symptoms very similar to the
juvenile form. These however progress comparatively slowly; so slowly that
the signs of neurological deficits may precede those associated with the
decline in blood capacity. The symptoms may include generalized weakness and
fatigue, difficulty breathing, an abnormally rapid heartbeat (tachycardia),
and/or chest pains (angina). Affected individuals may also have
gastrointestinal problems, such as a profound lack of appetite (anorexia),
abdominal pain, indigestion, belching, and/or constipation and diarrhea.
Weight loss is also common. Some people with Pernicious Anemia may have an
abnormally enlarged liver or spleen. Other problems involving urinary
function may also develop.
Because nerve cells need vitamin B12 to function properly, some people with
pernicious anemia will display neurological symptoms. Nerves other than
those of the brain and spinal cord (peripheral nervous system) are
frequently affected. Occasionally, the spinal cord may also be involved.
Neurological symptoms may include numbness, tingling, loss of sensation in
the arms and/or legs. Other neurological symptoms may include impaired
ability to coordinate movement, a positive Babinski sign (outward motion of
the big toe caused by stroking the sole of the foot), and/or exaggerated
reflexes. Some people with pernicious anemia may also become extremely
irritable or depressed and, in some rare cases, even experience paranoia. |
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Causes
Pernicious anemia is thought to be an autoimmune disease. Autoimmune
disorders are caused when the body's natural defenses against "foreign" or
invading organisms begin to attack healthy tissue for unknown reasons.
Pernicious anemia is sometimes seen in association with certain autoimmune
endocrine diseases, such as type 1 diabetes, hypoparathyroidism, Addison's
disease, and Graves' disease.
However, since the disorder also tends to occur with greater frequency in
certain families than in others, it is also believed that there may be a
genetic component to pernicious anemia. In general, risk factors for
pernicious anemia include a family history of the disease, being of Northern
European or Scandinavian descent, and a history of autoimmune endocrine
disorders.
Diagnosis
The diagnosis of pernicious anemia may be confirmed by a thorough clinical
evaluation, including a detailed patient history and specialized laboratory
tests. During a Schilling test, the intestines' ability to absorb vitamin
B12 is measured. The vitamin is labeled with radioactive cobalt and is
ingested by mouth. X-ray studies can then determine if the body is properly
absorbing this vitamin.
Treatment
If pernicious anemia is ignored, undiagnosed, or left untreated,
life-threatening complications can occur. Pernicious anemia is treated by
injection of vitamin B12 (hydroxocobalamin or cyanocobalamin) into the
muscle. A physician must closely monitor the amount of vitamin that is given
and adjust the dosage when necessary. People with pernicious anemia must
continue to receive maintenance doses of vitamin B12 throughout life.
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Disclaimer: These statements have not been evaluated by the Food and Drug
Administration. The products and information contained herein are not
intended to diagnose, treat, cure or prevent any diseases
or medical problems. This is not intended to replace your
doctor's recommendations. The information is provided for educational
purposes only. Nutritional benefits may vary from one person to another.
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