CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0420/04208.txt

Text File | 1994-01-17 | 23KB | 440 lines

$Unique_ID{BRK04208}
$Pretitle{}
$Title{Schmidt Syndrome}
$Subject{Schmidt Syndrome Diabetes Mellitus Addison's Disease Myxedema
Multiple Endocrine Deficiency Syndrome Type II PGA II Polyglandular Autoimmune
Syndrome Type II Polyglandular Deficiency Syndrome Type II APECED Syndrome
Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy }
$Volume{}
$Log{}

Copyright (C) 1991 National Organization for Rare Disorders, Inc.

855:
Schmidt Syndrome

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

Synonyms

     Diabetes Mellitus, Addison's Disease, Myxedema
     Multiple Endocrine Deficiency Syndrome, Type II
     PGA II
     Polyglandular Autoimmune Syndrome, Type II
     Polyglandular Deficiency Syndrome, Type II

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

     APECED Syndrome (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal
Dystrophy)

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.

Schmidt Syndrome is a rare disorder in which there are multiple
deficiencies in the glands that secrete hormones.  This syndrome is
characterized by the presence of Addison's disease and hypothyroidism.
Insulin-Dependent Diabetes and failure of additional hormone secreting
(endocrine) glands such as the gonads, parathyroids, and pancreas may also
occur along with autoimmune type abnormalities.  Most cases of this disorder
are sporadic although some scientists believe that there could be a familial
or hereditary trait associated with Schmidt Syndrome.

Symptoms

Symptoms of Schmidt Syndrome are:

1.  Addison's Disease - a rare disorder characterized by chronic and
insufficient functioning of the outer layer of the adrenal gland (adrenal
cortex).  Patients with Addison's Disease have a deficiency in the production
of glucocorticoid hormones which are manufactured by the adrenal gland.
These hormones (especially cortisol and aldosterone) are involved in
carbohydrates, fat and protein metabolism, carbohydrate and blood sugar
storage, and they fight inflammation and suppress the immune response.  The
deficiency in glucocorticoid causes an increased release of sodium and
decreased release of potassium in the urine, sweat, saliva, stomach and
intestines.  These changes can cause low blood pressure and increased water
excretion that can lead to severe dehydration.  (For more information on this
disorder choose "Addison's Disease" as your search term in the Rare Disease
Database).

2.  Hypothyroidism (under-active thyroid) - a disorder that can be
genetic or acquired and may occur alone or as a symptom of another illness.
Major symptoms may include the development of an enlarged thyroid gland in
the neck, a dull facial expression, puffiness and swelling around the eyes,
drooping eyelids, thinning hair which is coarse and dry, and poor memory.
Hypothyroidism can be caused by disorders of the hypothalamus or pituitary
centers in the brain, disorders that affect control of the thyroid hormone,
blockage in the metabolic process of transporting thyroid or iodine in the
thyroid gland itself, or the result of a hereditary disorder called
Hashimoto's Thyroiditis.  Hashimoto's Thyroiditis is an autoimmune disorder
in which the body's natural defenses against invading organisms (i.e.,
antibodies, lymphocytes etc.) suddenly begin to attack healthy tissue.  (For
more information on these disorders choose "Hypothyroidism" and "Hashimoto"
as your search terms in the Rare Disease Database).

Some (but not all) of the following additional symptoms may be present in
patients with Schmidt Syndrome:

3.  Diabetes Mellitus - this type of diabetes generally starts during
childhood or adolescence.  The starches and sugars (carbohydrates) in the
foods we eat are normally processed by digestive juices into glucose.  The
glucose circulates in the blood as a major energy source for body functions.
A hormone produced by the pancreas (insulin) regulates the body's use of
glucose.  In Diabetes Mellitus the pancreas does not manufacture the correct
amount of insulin needed to metabolize sugar.  As a result, the patient needs
daily injections of insulin to regulate blood sugar levels.  Symptoms of this
disorder may be frequent urination, extreme thirst, constant hunger, weight
loss, itching of the skin, changes in vision, slow healing of cuts and
bruises, and in children there is a failure to grow and develop normally.
(For more information on this disorder choose "Insulin-Dependent Diabetes" as
your search term in the Rare Disease Database).

4.  Hypoparathyroidism - this disorder causes lower than normal levels of
calcium in the blood due to insufficient levels of parathyroid hormones.
This condition can be inherited, associated with other disorders, or the
result of a neck injury.  Symptoms of hypoparathyroidism may be weakness,
muscle cramps, abnormal sensations of the hands such as burning and numbness,
excessive nervousness, loss of memory, headaches, cramping of wrists and
feet, and spasms in facial muscles.  (For more information on this disorder
choose "Hypoparathyroidism" as your search term in the Rare Disease
Database).

5.  Gonadal failure - the failure of the organ that produces sex cells
(gonads-or testes in the male, and ovaries in the female) to function
properly causing an absence of secondary sex characteristics.

6.  Pernicious Anemia - is a blood disorder resulting from an impaired
absorption of vitamin B-12.  This vitamin is used in the production of red
blood cells.  Healthy individuals absorb sufficient amounts of vitamin B-12
in their normal diet with the help of a substance secreted by the stomach
called intrinsic factor.  Patients with Pernicious Anemia generally lack
intrinsic factor and can not absorb sufficient amounts of vitamin B-12.
Symptoms of vitamin B-12 Deficiency usually appear years after absorption of
the vitamin ceases because B-12 is stored in large quantities in the liver.
Symptoms of this disorder may be shortness of breath, fatigue, weakness,
rapid heartbeat, angina, anorexia, abdominal pain, indigestion, and possibly
intermittent constipation and diarrhea.  (For more information on this
disorder choose "Pernicious Anemia" as your search term in the Rare Disease
Database).

7.  Vitiligo - is a skin condition in which there is an absence of
pigment producing cells (melanocytes) causing decreased pigmentation of the
skin.  These "white spots" on the skin appear most often on the face, neck,
hands, abdomen, and thighs although they may appear on all parts of the skin.
Vitiligo is sometimes familial, but the exact mode of heredity is not yet
understood.  (for more information on this disorder choose "Vitiligo" as your
search term in the Rare Disease Database).

8.  Celiac Sprue - is a chronic hereditary intestinal malabsorption
disorder caused by intolerance to gluten.  The most common symptoms of this
disorder are weight loss, chronic diarrhea, abdominal cramping and bloating,
intestinal gas and abdominal distention and muscle wasting.  Celiac Sprue is
a hereditary congenital disorder.  Gluten is a protein which is present in
wheat, oats, barley, rye and probably millet.  Patients with Celiac Sprue
cannot properly absorb a part of gluten called gliadin.  This causes
intestinal abnormalities as well as physiological deficiencies.  Although the
disorder begins in infancy, it is sometimes not diagnosed until the patient
reaches adulthood.  (For more information on this disorder choose "Celiac
Sprue" as your search term in the Rare Disease Database).

9.  Myasthenia Gravis - Sometimes this disorder can be associated with
Schmidt Syndrome.  Myasthenia Gravis is a chronic neuromuscular disease
characterized by weakness and abnormally rapid fatigue of the voluntary
muscles, with improvement following rest.  Any group of muscles may be
affected, but those around the eyes and the muscles used for swallowing are
the most commonly involved.  (For more information on this disorder choose
"Myasthenia Gravis" as your search term in the Rare Disease Database).

10.  Grave's Disease - is a disorder that affects the thyroid gland.  It
is thought to occur as a result of an imbalance in the immune system.  This
disorder causes increased thyroid secretion (hyperthyroidism), enlargement of
the thyroid gland and protrusion of the eyeballs.  The exact cause of this
disorder is not known.  It is thought to be inherited as an autosomal
recessive trait.  (For more information on this disorder choose "Graves
Disease as your search term in the Rare Disease Database).

Causes

The exact cause of Schmidt Syndrome is not known.  Many scientists feel that
this syndrome has an autoimmune basis.  Autoimmune disorders are caused when
the body's natural defenses (antibodies, lymphocytes, etc.) against invading
organisms suddenly attack healthy tissue.

It is also thought that Schmidt Syndrome may be inherited as an autosomal
dominant or autosomal recessive trait.  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.

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 not show 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.

Schmidt Syndrome has been found to be familial in some cases but the
majority of cases are thought to be sporadic and of unknown cause.

Affected Population

Schmidt Syndrome affects females approximately four times more than males.
This disorder usually becomes apparent during adulthood with the average age
of detection being approximately 30.

Related Disorders

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

APECED Syndrome (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal) is
a very rare genetic syndrome involving the autoimmune system.  APECED
Syndrome is a Type I polyglandular Autoimmune syndrome.  This disorder is
characterized by a combination of at least two of the following diseases:
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 this syndrome.  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.
(For more information on this disorder choose "APECED Syndrome as your search
term in the Rare Disease Database).

Therapies:  Standard

Each disorder in Schmidt Syndrome is treated separately.

Chronic adrenal insufficiency is treated with drugs such as
hydrocortisone and fludrocortisone to replace the cortisol and aldosterone
that are missing in Addison's Disease patients.  The daily dosage of
hydrocortisone should be increased during periods of infection, trauma,
surgery and other stresses.  Other drugs called vasopressors may be needed to
maintain blood pressure until the other measures take effect.

Diabetes Mellitus is treated with a daily routine of insulin-injection,
controlled diet, exercise to burn off glucose, and testing for blood sugar
level.  Urine testing for glucose spillage had been a standard recommendation
in past years, but has now been replaced with self blood glucose testing.
Self monitoring of blood glucose levels uses a single drop of blood which is
obtained from a finger stick, and placed on a chemically treated pad on a
plastic strip; the color change of the chemically treated pad is compared to
a color chart or "read" by a battery operated portable meter.  Insulin must
be given by injection, usually two or more times each day.  Recently portable
"insulin pumps" have been developed, which permit continuous administration
of insulin, as well as additional amounts of insulin when needed to control
the changes in blood sugar level that occurs after meals.

Hypothyroidism is treated with the administration of the synthetic
thyroid hormone, levothyroxine.  Other treatment includes the use of
desiccated thyroid, thyroglobulin and triiodothyronine.  Surgery to remove
enlarged thyroid glands or diseased thyroid tissue may also be performed.  If
the use of drugs is responsible for suppression of thyroid function, then the
drugs may be discontinued.

Hormonal treatment is sometimes effective in the treatment of gonadal
failure.

The administration of intramuscular injections of B12 is the standard
therapy for Pernicious Anemia.  The amount given to the patient must be
closely monitored by the physician.  Vitamin B12 maintenance therapy
generally must be continued for life as the untreated disease can be fatal.

Small lesions of Vitiligo may be camouflaged with cosmetic creams.
Paraaminobenzoic acid solution or gel gives protection against sunburn.

Patients with Celiac Sprue must exclude gluten completely from their
diet.  Supplementary vitamins, minerals, and agents which improve blood
formation (hematinics) may be prescribed depending upon the degree of the
deficiency.  Children, and rarely adults, who are seriously ill when they are
first diagnosed may require a period of intravenous feeding.  A few patients
who do not respond adequately at first to gluten withdrawal may respond to a
period of treatment with oral steroids such as prednisone.

Treatment of Graves Disease in adults usually involves the use of
radioactive iodine.  However, in children and pregnant women, drugs that
reduce release of thyroid hormones are preferred.  Surgery as a method of
treatment for Grave's Disease is usually reserved for patients in whom the
other forms of treatment have not been successful.  Lifelong follow-up is
necessary if the thyroid is removed.

For nearly forty years the anticholinesterase drugs, especially
pyridostigmine and neostigmine, have been in the mainstays of treatment for
Myasthenia Gravis.  Mestinon Prostigmine and Tensilon are other drugs used in
the treatment of this disorder.  Treatment with ACTH (adrenocorticotropic
hormone) can benefit severely ill myasthenia gravis patients, but a patient's
condition may worsen temporarily before improving.  Recently scientists at
the National Institute of Neurological Disorders and Stroke are employing a
new treatment for Myasthenia Gravis - long-term use of a high-single-dose,
alternate-day oral prednisone regimen.  This has proven beneficial over long
periods in a majority of patients treated.  Patients over 40, especially
males, appear to respond best to this treatment.  A surgical procedure for
removing the thymus (thymectomy) has benefited a number of myasthenia gravis
patients, many of whom were severely affected.  Recent studies have led some
physicians to believe that thymectomy should be performed routinely in many
myasthenia gravis patients.

Hypoparathyroidism is treated with calcium, ergocalciferol and
dihydrotachysterol (forms of vitamin D).

Genetic counseling may be of benefit for patients and their families who
have the inherited form of Schmidt Syndrome.

Therapies:  Investigational

At the present time, studies are being conducted on the effectiveness of
Vitamin D3 as a treatment for Hypoparathyroidism.  More research must be
conducted to determine long-term safety and effectiveness of this treatment.

In recent years, research supported by the National Institute of
Diabetes, Digestive and Kidney Disease (NIDDK), and other components of the
National Institutes of Health, and non-profit agencies that fund scientific
research on diabetes, has yielded new and exciting information on the
possible causes and improved management of diabetes and its complications.
Scientists have now identified genetic factors that appear to be associated
with diabetes - a finding that could lead to methods of prevention of the
disorder in genetically susceptible persons.  In related studies, the
discovery that the insulin-producing beta cells can be infected and
destroyed by common viruses could eventually result in the development of a
vaccine to prevent diabetes.  Pancreas transplantation has had limited
success, primarily due to the problem of rejection.  However recent advances
in immunology have raised hopes that the problem of rejection reaction common
in organ transplantation may be altered or prevented.  These findings
increase the possibility of transplanting healthy insulin-producing cells to
correct the diabetic condition.  Clinical studies to assess the effectiveness
of programmable implantable insulin pumps for unstable diabetes have been
successful for many patients.  Although these advances hold great promise for
the future, it is important to recognize that they are still in the research
phase and are not part of the routine treatment of diabetes.

The National Institute of Neurological Disorders and Strokes (NINDS) has
studied plasmapheresis as a treatment for Myasthenia Gravis.  Plasmapheresis
(plasma exchange) is a method for removing unwanted elements (toxins,
metabolic substances, and plasma parts affected by disease) from the blood.
It is performed by removing blood, separating plasma from the other blood
products, and replacing the plasma with clean human plasma.  In Myasthenia
Gravis, the immune system appears to attack the transmitter nerves at the
muscle and nerve junctions, nerve pathways and certain nerve endings
(acetylchline receptors).  Plasmapheresis has been used successfully to
strengthen patients before surgical removal of the thymus gland (thymectomy),
and during the postoperative period.  It can also be valuable in lessening
symptoms during immune suppression drug treatment and during acute crisis
attacks.  However, more research is needed before plasmapheresis becomes a
standard therapy, particularly because side effects of this treatment have
not been fully evaluated.  The effects of plasmapheresis are temporary, and
it is not commonly used for routine treatment because of high cost and the
effects tend to wear off after a short period of time.

Cyclosporine, a potent drug that suppresses the immune system, is being
tested as a treatment for Myasthenia Gravis.  Some patients have shown gains
in strength after using this drug.  However, more research is necessary
before cyclosporine can be used as a standard treatment for this disorder
because it can cause kidney damage.

This disease entry is based upon medical information available through
June 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

For more information on Schmidt Syndrome, please contact:

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

     The National Adrenal Diseases Foundation, Inc.
     505 Northern Blvd., Suite 200
     Great Neck, NY  11021
     [phone]

     Thyroid Foundation of America
     c/o Dr. Morris Wood
     Massachusetts General Hospital
     Boston, MA  02114
     [phone]

     American Diabetes Foundation
     National Service Center
     1660 Duke Street
     Alexandria, VA  22314
     [phone]
     1-800-ADA-DISC (1-800-232-3472)

     Juvenile Diabetes Foundation International
     60 Madison Avenue, 4th Floor
     New York, NY  10010
     [phone]

     National Foundation for Vitiligo & Pigment Disorders
     9032 South Normandy Dr.
     Centerville, Ohio  45459

     Celiac Sprue Association/USA
     2313 Rocklyn Drive #1
     Des Moines, IA  50322
     [phone]

     Myasthenia Gravis Foundation, Inc.
     53 W. Jackson Blvd., Suite 1352
     Chicago, IL  60604
     1-800-541-5454
     [phone]

     National Digestive Diseases Information Clearinghouse
     P.O. Box NDDIC
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     914-428-7100

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

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1472

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp.  1265, 1333, and 1460-
1461.

THE MERCK MANUAL, 15th Ed.:  Robert Berkow M.D., Editor:  Merck Sharp &
Dohme Research Laboratories, 1987.  Pp.  1069.

MYASTHENIA GRAVIS AND SCHMIDT SYNDROME.  J.K. McAlpine, et al.; Postgrad
Med J (Oct, 1988, issue 64(756)).  Pp.  787-8.

SCHMIDT SYNDROME:  A RARE CASE OF PUBERTY MENORRHAGIA.  J.B. Sharma, et
al.; Int J Gynaecol (Dec, 1990, issue 33(4)).  Pp.  373-5.