home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0425
/
04251.txt
< prev
next >
Wrap
Text File
|
1994-01-17
|
7KB
|
165 lines
$Unique_ID{BRK04251}
$Pretitle{}
$Title{Tangier Disease}
$Subject{Tangier Disease Familial Alpha-Lipoprotein Deficiency
Alphalipoproteinemia Familial High-Density Lipoprotein Deficiency
Analphalipoproteinemia Alpha High-Density Lipoprotein Deficiency
Acanthocytosis }
$Volume{}
$Log{}
Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders,
Inc.
385:
Tangier Disease
** IMPORTANT **
It is possible the main title of the article (Tangier Disease) is not the
name you expected. Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.
Synonyms
Familial Alpha-Lipoprotein Deficiency
Alphalipoproteinemia
Familial High-Density Lipoprotein Deficiency
Analphalipoproteinemia
Alpha High-Density Lipoprotein Deficiency
Information on the following disease can be found in the Related
Disorders section of this report:
Acanthocytosis
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.
Tangier Disease is an inherited blood disorder involving decreased
concentrations of fat compounds in the blood called high density
lipoproteins. Large amounts of these compounds may accumulate in certain
organs of the body causing tissue discoloration. In later stages, these
accumulations may cause organ enlargement and/or blood circulation problems.
Symptoms
Tangier Disease is a slowly progressive disorder initially characterized by
enlarged orange or yellowish-gray tonsils. This same discoloration may be
found in other parts of the throat and/or rectum. In time, the liver, spleen
and lymph nodes may become enlarged. Brain dysfunction, loss of tendon
reflexes and coronary artery disease may also occur. In some cases, small
solid elevated skin lesions (papules) may appear.
Causes
Tangier Disease is inherited as an autosomal recessive trait. The absence of
normal amounts of high density lipoproteins (HDL) in the blood cause symptoms
of this disorder. High density lipoproteins are fat-carrying components of
the blood containing relatively low levels of fatty acids and high levels of
proteins.
Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, 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 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
Tangier Disease is thought to be present at birth but without noticeable
symptoms. It usually is diagnosed during later childhood or adulthood. Only
twenty known cases in the world were documented between 1967 and 1977,
although the primary reason for this small number may be misdiagnosis and a
low level of the recognition of symptoms. This disorder was first identified
in the inbred population of Tangier Island in Chesapeake Bay, Maryland, and
later in Missouri and Kentucky. However, it may possibly be spreading to
other countries.
Related Disorders
Acanthocytosis, also known as Bassen-Kornzweig Syndrome, is inherited as a
recessive trait and can often be found in inbred populations. This disorder
is marked by the absence of low density lipoproteins and excretion of fat in
stools (steatorrhea). Other features of Acanthocytosis may include abnormal
red blood cells (acanthocytes), retinitis pigmentosa, ataxia and mental
retardation. Absorption of fat is markedly impaired. Massive doses of
Vitamins E and A may delay or retard the neurologic complications. (For more
information choose Acanthocytosis", "RP" and "ataxia" as your search terms in
the Rare Disease Database).
Therapies: Standard
Treatment of Tangier Disease is symptomatic and supportive. Genetic
counseling may be of benefit to families of patients with this disorder.
Surgical removal of the spleen may become necessary in some cases if the
spleen is enlarged.
Therapies: Investigational
This disease entry is based upon medical information available through
February 1990. 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 Tangier Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon St, Rm. 304
Brookline, MA 02164
(617) 277-4463 or 277-3965
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
(301) 652-5553
References
ANALYTICAL CAPILLARY ISOTACHOPHORESIS: A ROUTINE TECHNIQUE FOR THE ANALYSIS
OF LIPOPROTEINS AND LIPOPROTEIN SUBFRACTIONS IN WHOLE SERUM: U. Borgmann, et
al.; J Chromatogr (Feb. 22, 1985, issue 320(1)). Pp. 253-62.
JAPANESE ADULT SIBLINGS WITH TANGIER DISEASE AND STATISTICAL ANALYSIS OF
REPORTED CASES: K. Fujii, et al.; Tokai J Exp Clin Med (Dec. 1984, issue
9(5-6)). Pp.379-387.
TANGIER DISEASE. A HISTOLOGICAL AND ULTRASTRUCTURAL STUDY: P.
Dechelotte, et al.; Pathol Res Pract (Oct. 1985, issue 180(4)). Pp. 424-430.