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$Unique_ID{BRK03728}
$Pretitle{}
$Title{Fabry Disease}
$Subject{Fabry Disease Anderson-Fabry Disease GLA Deficiency Ceramide
Trihexosidase Deficiency Angiokeratoma Diffuse Angiokeratoma Corporis Diffusum
Hereditary Dystopic Lipidosis Alpha-Galactosidase Deficiency Glycolipid
Lipidosis Angiokeratoma of Fordyce Angiokeratome of Mibelli Lysosomal Storage
Diseases}
$Volume{}
$Log{}
Copyright (C) 1986, 1988, 1989, 1990, 1991 National Organization for Rare
Disorders, Inc.
200:
Fabry Disease
** IMPORTANT **
It is possible that the main title of the article (Fabry Disease) is not
the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Anderson-Fabry Disease
GLA Deficiency
Ceramide Trihexosidase Deficiency
Angiokeratoma Diffuse
Angiokeratoma Corporis Diffusum
Hereditary Dystopic Lipidosis
Alpha-Galactosidase Deficiency
Glycolipid Lipidosis
Information on the following diseases can be found in the Related
Disorders section of this report:
Angiokeratoma of Fordyce
Angiokeratome of Mibelli
Lysosomal Storage Diseases
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.
Fabry disease is a rare inherited disorder which results from a deficiency of
an enzyme known as alpha-galactosidase A. This enzyme is responsible for the
breakdown of compounds called glycolipids (fats containing carbohydrates like
glucose). When the enzyme is missing or non-functional, these glycolipids
accumulate, particularly in the walls of blood vessels throughout the body.
This sex-linked hereditary disorder primarily affects males, but carrier
females occasionally may have mild manifestations.
Symptoms
In males with Fabry disease, the first symptoms usually noted in childhood
include the development of small, red skin lesions (known as angiokeratoma)
on the abdomen, groin and upper thighs and episodes of burning/tingling pain
in the hands and feet. The painful episodes are triggered by fever, fatigue,
stress and rapid changes in the weather. With advancing age, males
experience problems associated with the slowly progressive narrowing and
blockage of blood vessels through the body. Most patients develop kidney
disease and require chronic dialysis or kidney transplantation. Patients may
also have heart disease or strokes due to blood vessel involvement.
Males with milder symptoms have been described who have not experienced
the pain and who do not develop kidney failure. Carrier females, who carry
one disease-causing gene and one normal gene, may experience occasional
episodes of pain, particularly in childhood. About 80% of carrier females
have a subtle change in their corneas which does not affect vision. Most
carrier females live a normal life-span.
Causes
Fabry disease is a hereditary, sex-linked disease which results from the
deficiency of an enzyme called alpha-galactosidase A. The missing enzyme
causes accumulation of glycolipid products (fats containing carbohydrates
like glucose) in various tissues of the body and in particular in the walls
of blood vessels. The disorder is inherited as an x-linked 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. X-linked recessive disorders are conditions which are coded on the X
chromosome. Females have two X chromosomes, but males have one X chromosome
and one Y chromosome. Therefore, in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome. Since
males only have one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed. Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.
Affected Population
Fabry disease strikes predominantly males. Females with this disorder have a
milder form of the disease than males. There are an estimated 1 in 40,000
persons with Fabry disease in the US.
Related Disorders
Symptoms of the following disorders can be similar to those of Fabry disease.
Comparisons may be useful for a differential diagnosis:
The Angiokeratomas of Fordyce are similar in appearance to the small red
lesions in Fabry disease but are limited to the scrotum and usually appear
after age thirty.
The Angiokeratomas of Mibelli are wart-like lesions on the extensor
surfaces of the extremities of young adults and are associated with
chilblains (skin lesions resulting from exposure to extreme cold).
Lysosomal Storage Diseases such as Fucosidosis, Sialidasis, Adult-Type B
Galactosidase Deficiency and Aspartylglucosominuria have angiokeratoma which
are similar or indistinguishable from the lesions of Fabry disease.
Therapies: Standard
Relief from the chronic episodes of pain in the extremities can be achieved
with daily oral medication (dilantin). Kidney failure can be treated by
chronic hemodialysis or kidney transplantation. Other problems should be
treated symptomatically after consultation with a physician experienced in
the care of Fabry patients.
Genetic counseling may be of benefit for patients and their families.
Therapies: Investigational
Recently, research efforts have resulted in the manufacture of the orphan
drug alpha-galactosidase A as a treatment for Fabry Disease.
The FDA is testing the biologic Alpha-Galactosidase A (CC Galactosidase),
developed by Dr. David Calhoun, as a treatment for Fabry's Disease.
More research is needed to determine the long-term safety and
effectiveness of this treatments.
For more information, physicians may contact the International Center for
Fabry Disease listed in the Resources section.
This disease entry is based upon medical information available through
October 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
203-746-6518
R.J. Desnick, Ph.D., M.D.
International Center for Fabry Disease
Mt. Sinai School of Medicine
5th Ave at 100th St.
New York, NY 10029
212-241-6944
Dr. Roscoe O. Brady
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-3285
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon St. Rm. 304
Brookline, MA 02164
617-277-4463 0r 277-3965
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Research Trust for Metabolic Diseases in Children
Golden Gates Lodge, Weston Rd.
Crewe CW1 1XN, England
Telephone: (0270) 250244
For Genetic Information and Genetic Counseling Referrals:
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
(301) 652-5553
References
MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 1564-1567.
THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et
al., Editors; McGraw Hill, 1989. Pp. 1754-1774.
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1144-1145.
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987, Pp. 522, 1012.