CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0358/03586.txt

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$Unique_ID{BRK03586}
$Pretitle{}
$Title{Hermansky-Pudlak Syndrome}
$Subject{Hermansky-Pudlak Syndrome Albinism with Hemorrhagic Diathesis and
Pigmented Reticuloendothelial Cells HPS Delta Storage Pool Disease Albinism
Chediak-Higashi Syndrome}
$Volume{}
$Log{}

Copyright (C) 1993 National Organization for Rare Disorders, Inc.

946:
Hermansky-Pudlak Syndrome

** IMPORTANT **
It is possible that the main title of the article (Hermansky-Pudlak
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

     Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial
     Cells
     HPS
     Delta Storage Pool Disease

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

     Albinism
     Chediak-Higashi Syndrome

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.

Hermansky-Pudlak Syndrome is a rare, hereditary disorder that consists of
three characteristics:  Albinism (lack of skin pigment), red blood cells that
lack dense bodies, and abnormal storage of a ceroid or fat-like material in
various body systems.

Symptoms

Symptoms of Hermansky-Pudlak Syndrome include oculocutaneous albinism (lack
of color in the skin, hair and eyes), abnormality of certain red blood cells
(storage pool-deficient platelets), and deposits of ceroid ( a type of fat)
in body tissues.

The skin, hair, and eyes of a HPS patient may vary in color from very
pale to almost normal coloring.  Eyesight is almost always very poor with
visual acuities of 20/200 or worse, and many people with HPS are legally
blind.  The blood storage abnormality may cause excessive bleeding,
especially in women during menstruation.  Bleeding may become life-
threatening, especially after taking aspirin.

The deposits of fat-like ceroid may occur in many of the body's tissues
such as the lungs, colon, heart, and kidneys.  These deposits may cause
restrictive lung disease, inflammatory bowel disease (for more information on
these types of disease see Crohns or Ulcerative Colitis in the Rare Disease
Database), kidney failure, and heart disease.

Often the first symptoms in a child with the HP syndrome may be easy
bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or
accidents.

Causes

The exact cause of Hermansky-Pudlak Syndrome is not known.  Many researchers
suggest that an abnormality of lysosomal function is responsible for the
development of the disease.  The disorder is inherited as an autosomal
recessive genetic 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 recessive disorders, the condition
does not appear unless a person inherits the same defective gene from 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.

Affected Population

Hermansky-Pudlak Syndrome is a rare disorder that affects males and females
in equal numbers.  It is most prevalent in persons of Puerto Rican decent and
occurs once in 2,000 persons of this nationality.  However, it does occur in
other heritages as well.  The syndrome occurs most often in Puerto Ricans
with ancestry from the northwest area of the country and can be traced,
originally, to immigrants from Spain.  It is the third most prevalent form of
Albinism.

Related Disorders

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

Albinism is a group of rare inherited disorders characterized by the
absence at birth of color (pigmentation) in the skin, hair, and eyes.
Albinism is also associated with certain syndromes that produce defects in
the eyes.  In Albinism the skin and the eyes are generally white.  In some
cases this may lead to abnormal sensitivity to light, abnormal eye movements,
crossed eyes, or nearsightedness.  Persons with Albinism are at increased
risk of developing skin cancer.  (For more information on this disorder,
choose "Albinism" as your search term in the Rare Disease Database).

Chediak-Higashi Syndrome is a form of Albinism characterized by decreased
skin pigmentation, eye problems, white blood cell abnormalities, and
increased susceptibility to infections and certain cancers.  The disorder is
hereditary.  (For more information on this disorder, choose "Chediak-Higashi"
as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Hermansky-Pudlak Syndrome may consist of transfusions of normal
blood platelets to patients with excessive bleeding, or treatment with the
drug cyroprecipitate can halt blood loss.  Women with excessive menstrual
bleeding (menorrhagia) can be treated with oral contraceptives.  The drug
Desmopressin acetate (DDAVP) can also be administered to patients with
excessive bleeding and has proved very effective for this symptom in
Hermansky-PudlaK Syndrome.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

The National Institutes of Health (NIH) is sponsoring the Human Genome
Project which is aimed at mapping every gene in the human body and learning
why they sometimes malfunction.  It is hoped that this new knowledge will
lead to prevention and treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
April 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 Hermansky-Pudlak Syndrome, please contact:

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

     Hermansky-Pudlak Syndrome Network
     39 Riveria Court
     Malverne, NY  11565
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
     Information Clearinghouse
     Box AMS
     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
     301-652-5553

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  P. 1206.

THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.:  Charles R. Scriver, et
al., Editors; McGraw Hill, 1989.  Pp. 2905, 2916, 2929-2930.

HEMATOLOGY, 4th Ed,:  William J. Williams, et al,; Editors; McGraw-Hill,
Inc., P. 1177.

ELEVATED URINARY DOLICHOL EXCRETION IN THE HERMANSKY-PUDLAK SYNDROME.
INDICATOR OF LYSOSOMAL DYSFUNCTION., C.J. Witkop, et al.; Am J Med, March,
1987, (issue 82 (3)).  Pp 463-670.

HERMANSKY-PUDLAK SYNDROME:  CASE REPORT AND CLINICOPATHOLOGIC REVIEW.,
J.P. Schachne, et al.; J Am Acad Dermatol, May, 1990, (issue 22 (5 pt 2)).
Pp. 926-932.