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$Title{Anemia, Pernicious}
$Subject{Anemia, Pernicious Addisonian Pernicious Anemia Addison's Anemia
Biermer Anemia Primary Anemia Addison-Biermer Anemia Cytogenic Anemia
Malignant Anemia Congenital Absence of Intrinsic Factor Juvenile Pernicious
Anemia Megaloblastic Anemia Hereditary Spherocytic Hemolytic Anemia Anemias
(General) Vitamin B12 Deficiency}
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Copyright (C) 1986, 1990, 1993 National Organization for Rare Disorders,
Inc.

79:
Anemia, Pernicious

** IMPORTANT **
It is possible that the main title of the article (Pernicious Anemia) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Addisonian Pernicious Anemia
     Addison's Anemia
     Biermer Anemia
     Primary Anemia
     Addison-Biermer Anemia
     Cytogenic Anemia
     Malignant Anemia
     Congenital Absence of Intrinsic Factor

Disorder Subdivisions:

     Juvenile Pernicious Anemia

Information on the following diseases can be found in the Related
Disorders section of this report:

     Megaloblastic Anemia
     Hereditary Spherocytic Hemolytic Anemia
     Anemias (General)
     Vitamin B12 Deficiency

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Pernicious Anemia is a rare blood disorder characterized by a deficiency
of vitamin B12 (a cobalamin) which is essential for the development of red
blood cells.  Symptoms generally develop due to a failure of the lining of
the stomach (gastric mucosa) to secrete a protein (intrinsic factor) that
acts in the small intestine to aid in the absorption of vitamin B12 from the
diet.  In some cases of Pernicious Anemia, other abnormalities in the
intestines prevent absorption of this essential vitamin.

Symptoms

Pernicious Anemia usually progresses very slowly because the liver stores
enough vitamin B12 to last 3 to 5 years.  The symptoms begin to appear as the
reserves of vitamin B12 in the liver are depleted.  Sometimes the first
symptom can be a burning feeling in the mouth for which no cause can be
found.

Once the symptoms of Pernicious Anemia appear, they must be treated or
the disease could be life-threatening.  These symptoms include weakness,
fatigue, an upset stomach (dyspnea), an abnormally rapid heartbeat
(tachycardia), and/or chest pains (angina).  People with this disorder 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 common.  In some cases this disease may cause an
abnormally enlarged liver (hepatomegaly) or spleen (splenomegaly), and it can
cause problems with the urogenital system.

Some people with Pernicious Anemia may also have involvement of the
neurological system.  The nerves outside the brain are frequently affected
(peripheral nervous system).  However, nerves in the spinal cord may also be
impaired.  Neurological symptoms include numbness or tingling in the arms
and/or legs (acroparesthesias), loss of the awareness of vibration and
position in the arms and/or legs, impaired ability to coordinate movement
(ataxia), a positive Babinski sign (the outward motion of the big toe caused
by stroking the sole of the foot), and/or hyperactive reflexes.  Some people
with Pernicious Anemia may be irritable and depressed, or even experience
paranoia (known as megaloblastic madness).

Causes

Pernicious Anemia is a rare disorder that is known to run in families.  A
genetic predisposition to this disease may be inherited as an autosomal
dominant genetic trait.   A genetic predisposition means that a person may
carry a gene for a disease but it may not be expressed unless something in
the environment triggers the disease.  The gene for intrinsic factor has been
located on chromosome 11.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.  In dominant disorders a single copy of the disease gene (received
from either the mother or father) will be expressed "dominating" the other
normal gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

The symptoms of Pernicious Anemia develop due to the failure of the
lining of the stomach (gastric mucosa) to secrete a protein called intrinsic
factor.  Other causes may also be involved including surgery on the digestive
tract (gastrostomy), or inability of the small intestine to absorb sufficient
nutrients from food (malabsorption syndromes).

Pernicious Anemia may also be caused by the absence in the small
intestine (ileum) of the sites that absorb vitamin B12, the inability to
absorb Vitamin B12 due to local intestinal inflammation (regional enteritis)
or surgery on the small intestine, chronic inflammation of the stomach
(atrophic gastritis), chronic inflammation of the pancreas (pancreatitis), a
condition associated with hypothyroidism characterized by abnormal deposits
of mucin in the skin (myxedema), congenital malformations of the small
intestine (i.e., blind loop syndrome), or fish tapeworm infestation.  (For
more information, choose "Gastritis" and "Hypothyroidism," as your search
terms in the Rare Disease Database.)

Affected Population

Pernicious Anemia primarily affects adults and rarely occurs before the
patient reaches the age of 35.  It is most common in the moderate climates of
North America and Europe among people of Scandinavian, English, and Irish
descent.  Pernicious Anemia is extremely rare in people of Oriental ancestry.

A juvenile version of Pernicious Anemia affects infants, children, and
adolescents.  It resembles the adult version in all respects except certain
biochemical reactions.

Pernicious Anemia also occurs more frequently in people who have multiple
myeloma and various immunoglobulin deficiencies.  (For more information on
these disorders, choose "Multiple Myeloma," and "Immunodeficiency" as your
search terms in the Rare Disease Database.)

Related Disorders

Symptoms of the following disorders can be similar to those of Pernicious
Anemia.  Comparisons may be useful for a differential diagnosis:

Megaloblastic Anemia is a rare blood disorder characterized by the
presence of abnormal white blood cells, low white blood cell counts, and
abnormally low levels of circulating platelets.  The initial symptoms may
include diarrhea, vomiting, a profound loss of appetite (anorexia), and
weight loss.  Other symptoms may include an abnormally enlarged liver and/or
spleen, weakness, heart palpitations, breathing problems, and/or
irritability.  (For more information, choose "Megaloblastic Anemia" as your
search term in the Rare Disease Database.)

Hereditary Spherocytic Hemolytic Anemia is a rare inherited blood
disorder characterized by the presence of sphere-shaped red blood cells.
These cells have difficulty circulating through the spleen resulting in the
destruction of red blood cells.  The symptoms of Hereditary Spherocytic
Hemolytic Anemia may be present at birth or not be apparent for years, and in
many people the disease may be so mild that it is not diagnosed.  Symptoms
may include fatigue and a yellow (jaundice) appearance to the skin.
Generally the spleen is enlarged resulting in abdominal discomfort.  An
infection is the most common trigger of an anemic crisis.  Trauma or
pregnancy may also cause an anemic crisis.  The person may experience fever,
headache, loss of appetite, vomiting, leg sores, and/or general weakness.
(For more information on this disorder, choose "Hereditary Spherocytic
Hemolytic Anemia" as your search term in the Rare Disease Database.)

Other types of anemias include:  Aplastic Anemia; Hereditary Non-
Spherocytic Hemolytic Anemia; Warm Antibody Hemolytic Anemia; Cold Antibody
Hemolytic Anemia; Acquired Autoimmune Hemolytic Anemia; Pernicious Anemia;
Folic Acid Deficiency Anemia; Blackfan-Diamond Anemia; and Fanconi's Anemia.
(For information on other types of Anemias, choose "Anemia" as your search
term in the Rare Disease Database.)

Vitamin B12 Deficiency is characterized by abnormally low levels of
circulating B12 caused by a poor diet, or inadequate absorption of this
vitamin by the stomach.  Unlike Pernicious Anemia, people with Vitamin B12
Deficiency typically have normal levels of intrinsic factor.  Most people
with the disorder have abnormally low red blood cell counts (anemia).
Symptoms may also include an abnormally enlarged spleen or liver, lack of
appetite, intermittent constipation and diarrhea, and/or abdominal pain.
This deficiency is very rare due to storage of Vitamin B12 in the liver which
lasts for 3 to 5 years.  When insufficient B12 is in the diet, the liver
releases B12 to compensate for the loss.  (For more information, choose
"Vitamin B12 Deficiency" as your search term in the Rare Disease Database.)

Therapies:  Standard

Pernicious Anemia is diagnosed through a laboratory test (Schilling test)
that measures the ability of the small intestine to absorb vitamin B12.  The
vitamin is labeled with radioactive cobalt and ingested by mouth.  X-ray
studies can then determine if the body is properly absorbing this vitamin.


Pernicious Anemia is treated by injection of vitamin B12 (as crystalline
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 this disorder must continue to receive
maintenance doses of vitamin B12 for life.

Genetic counseling may be of benefit for people with Pernicious Anemia
and their families.

Therapies:  Investigational

This disease entry is based upon medical information available through June
1993.  Since NORD's resources are limited, it is not possible to keep every
entry in the Rare Disease Database completely current and accurate.  Please
check with the agencies listed in the Resources section for the most current
information about this disorder.

Resources

For more information on Pernicious Anemia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Heart, Blood and Lung Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1992.  Pp. 844.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 693, 847.

THE MERCK MANUAL, 16th Ed.:  Robert Berkow Ed.; Merck Research
Laboratories, 1992.  Pp. 766, 1156.

HEMATOLOGY, 4th Ed,:  William J. Williams, et al,; Editors; McGraw-Hill,
Inc., 1990.  Pp. 459-461.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  P. 135.

LONG-TERM NEUROLOGIC CONSEQUENCES OF NUTRITIONAL VITAMIN B12 DEFICIENCY
IN INFANTS.  S.M. Graham; J Pediatr (Nov 1992; 121(5:1)).  Pp. 710-14.

PERNICIOUS ANEMIA.  EARLY IDENTIFICATION TO PREVENT PERMANENT SEQUELAE.
A.B. Karnad; Postgrad Med (Feb 1991; 91(2)).  Pp. 231-34.

HUMAN GASTRIC INTRINSIC FACTOR:  CHARACTERIZATION OF cDNA AND GENOMIC
CLONES AND LOCALIZATION TO HUMAN CHROMOSOME 11.  J.E. Hewitt; Genomics (Jun
1990; 10(2)).  Pp. 432-40.