CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0347/03479.txt

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$Unique_ID{BRK03479}
$Pretitle{}
$Title{APECED Syndrome}
$Subject{APECED Syndrome Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal
Dystrophy Autoimmune Polyglandular Disease Type I PGA I Polyglandular
Autoimmune Syndrome PGA II Polyglandular Autoimmune Syndrome PGA III
Polyglandular Autoimmune Syndrome Addisons Disease Hypoparathyroidism Chronic
Candidiasis Ectodermal Dysplasia}
$Volume{}
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Copyright (C) 1991 National Organization for Rare Disorders, Inc.

835:
APECED Syndrome

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

Synonyms

     Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
     Autoimmune Polyglandular Disease Type I

Disorder Subdivisions:

     PGA I (Polyglandular Autoimmune Syndrome)
     PGA II (Polyglandular Autoimmune Syndrome)
     PGA III (Polyglandular Autoimmune Syndrome)

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

     Addisons Disease
     Hypoparathyroidism
     Chronic Candidiasis
     Ectodermal Dysplasia

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.

APECED Syndrome is a very rare genetic syndrome involving the autoimmune
system.  It is a combination of several distinct disorders.  APECED stands
for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal
Dysplasia (ED).  Major symptoms may include low calcium and phosphate levels
in the blood (hypoparathyroidism), lack of tooth enamel (enamel dystrophy),
loss of hair (alopecia) and absence of pigment in areas of the skin
(vitiligo).  An eye disorder, corneal dystrophy (keratopathy), may also
occur.  There may be failure of sexual development, yeast infections of the
mouth and nails (candidiasis), and the inability to properly absorb nutrients
from food (malabsorption).  Patients may develop liver disease or insulin-
dependent diabetes as well as any combination of the various disorders.

Symptoms

APECED Syndrome is defined as a combination of at least two of the following
disorders:  Hypoparathyroidism, Adrenocortical Failure or Candidiasis.
Beginning in childhood, yeast infections of either the mouth or nails is
usually one of the first apparent symptoms of APECED.  Low plasma levels of
calcium and phosphate (hypoparathyroidism) is often diagnosed before adrenal
dystrophy.  There may be an inability to adequately absorb nutrients with
resulting diarrhea.  Anemia, autoimmune thyroid disease, and loss or delay of
sexual development may also occur.  The combination of ectodermal dysplasia
with candidiasis or hypoparathyroidism may also indicate an APECED patient.

Disorder Subdivisions:
There are three types of recognized Polyglandular Autoimmune Syndrome
(PGA).  Autoimmune diseases are characterized by the body's natural defense
system (e.g., antibodies and lymphocytes) attacking healthy tissue as if it
were a foreign body.

PGA I is characterized by the presence of two or three endocrine
diseases and Candidiasis.

PGA II is defined as having autoimmune thyroid disease and Addisons
Disease and/or Insulin-Dependent Diabetes without Candidiasis or
Hypoparathyroidism.

PGA III is characterized by patients who have autoimmune thyroid disease
and any other autoimmune disease, but they do not have Addisons Disease.

Causes

APECED Syndrome results from autosomal recessive genetic transmission.  The
disease develops most often in persons of Finnish decent.

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 recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

APECED Syndrome affects persons of all ages.  It usually begins in childhood
but can develop as late as the fifth decade.  The syndrome affects males and
females in equal numbers.  The disease is very rare occuring in only about
170 persons world wide.  However, the majority of the affected persons live
in Finland.

Related Disorders

Symptoms of the following disorders can be a component of APECED Syndrome:

Addison's Disease is a disorder characterized by chronic and insufficient
functioning of the cortex (outer layer) of the adrenal gland.  This
malfunction results in a deficiency of the hormone aldosterone.  Aldosterone
is a hormone that regulates the salt and water balance in the body.
Patients's with Addison's Disease show abnormally high concentrations of
potassium and abnormally low concentrations of sodium in the blood.  These
changes in electrolyte balance produce low blood pressure and an increase of
water excretion that can lead to severe dehydration.  (For more information
on this disorder, choose "Addison's" as your search term in the Rare Disease
Database).

Hypoparathyroidism is a disorder that causes lower than normal levels of
calcium and phosphate in the blood due to insufficient levels of parathyroid
hormones.  It is characterized by weakness, muscle cramps, and abnormal
sensations such as tingling, burning and numbness of the hands.  Excessive
nervousness, loss of memory, headaches and uncontrollable cramping muscle
movements of the wrists and feet may also occur.  (For more information on
this disorder, choose "Hypoparathyroidism" as your search term in the Rare
Disease Database).

Candidaisis is a normally harmless yeast infection which occurs in the
mouth, intestinal tract, skin, nails, and genitalia.  It is caused by a
fungus called Candida Albicans.  Candida infections are rarely serious in
otherwise healthy people.  In rare cases it may spread through other parts of
the body if the patient's immune system is not functioning properly.  (For
more information on this disorder, choose "Candidiasis" as your search term
in the Rare Disease Database).

The Ectodermal Dysplasias are a group of hereditary, non-progressive
syndromes in which the affected tissue derives from the ectodermal germ
layer.  The skin, hair follicles, nails, teeth, and sweat glands are most
commonly affected.  The numerous syndromes are various combinations of
defects that occur in the different areas of the body.  (For more information
on this disorder, choose "Ectodermal Dysplasia" as your search term in the
Rare Disease Database).

Therapies:  Standard

Treatment of APECED Syndrome is directed toward the specific diseases that
are apparent in each patient.

Addison's disease is treated with drugs such as hydrocortisone and
fludrocortisone to replace the cortisol and aldosterone that are missing in
Addison's patients.

Hypoparathyroidism is treated with calcium, ergocalciferol or
dihydrotachysterol (forms of Vitamin D).

In Chronic Mucocutaneous Candidiasis, amphotericin B, mystatin,
clotrimazole, miconizole or 5-fluorocytosine are useful drugs.

There is no known cure for Ectodermal Dysplasia.  Treatment is directed
at symptoms.  Over the counter creams may relieve skin discomfort.  Dentures,
hearing aids, etc., may be required.  Heat and over-exercise are to be
avoided due to impaired sweating.  Cleft lip and palate, syndactyly, and
other limb deformations are treated by surgery.

Genetic counseling is important for patients with APECED and for their
relatives, especially if the patient is of Finnish decent.  Other treatment
is symptomatic and supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through April
1991.  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

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

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     National Foundation for Ectodermal Dysplasias
     219 E. Main St.
     Mascoutah, IL 62258
     [phone]

     The National Adrenal Disease's Foundation, Inc.
     505 Northern Blvd., Suite 200
     Greatneck, NY 11021
     [phone]

     The Endocrine Society
     9650 Rockville Pike
     Bethesda, MD 20205
     [phone]

     National Digestive Diseases Information Clearinghouse
     P.O. Box NDDIC
     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, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp.  1263-1264.

CLINICAL VARIATION OF AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-
ECTODERMAL DYSTROPHY (APECED), P. Ahonen, et al,; N Eng J Med, (June 28,
1990, issue 322 (26)).  Pp. 1829-1836.

AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDOSIS-ECTODERMAL DYSTROPHY (APECED):
AUTOSOMAL RECESSIVE INHERITANCE., P. Ahone, Glin Genet, (June 27, 1985, issue
(6)).  Pp. 535-542.